MONDO:0010311

The study conducted a linkage analysis on 30 Becker muscular dystrophy (BMD) kindreds using three cloned DNA sequences from the X chromosome. The results suggest that the BMD gene is located on the short arm of the X chromosome, specifically in the p21 region. The study also suggests that the genes for Becker and Duchenne dystrophies are closely linked, if not allelic. The analysis also provides data on the frequency of recombination along the short arm of the X chromosome, and across the centromeric region.


NCBIGene:540755


UMLS:C4263507


UMLS:C2984295


PUBCHEM.COMPOUND:3559

The study investigates the effects of a 6-hour infusion with haloperidol on serum prolactin and luteinizing hormone (LH) levels in male subjects. The results showed that haloperidol infusions significantly increased prolactin levels (hyperprolactinemia) and abolished the pituitary response to LH-releasing hormone (LH-RH) compared to control subjects who received infusions of 0.9% NaCl solution.


PUBCHEM.COMPOUND:3559


NCBIGene:11666

The study discovered a new mutation in the adrenoleukodystrophy (ALD) gene in six family members, each presenting with different phenotypes. The mutation, a cytosine to guanine transversion at nucleotide 1451 in exon five, resulted in the substitution of proline 484 by arginine. This mutation was found in five siblings and the symptomatic mother, all of whom had an accumulation of very long chain fatty acids. The mutation was not found in unaffected individuals, unrelated ALD patients, or controls. The researchers suggest that this mutation is responsible for the disease and metabolic defect, but additional factors must contribute to the different phenotypes.


NCIT:C167282


UMLS:C0600597

The study demonstrates the use of high-density oligonucleotide arrays for the rapid and accurate detection of heterozygous mutations in the BRCA1 gene, which is associated with hereditary breast and ovarian cancer. The method was able to accurately diagnose 14 out of 15 patient samples with known mutations and also detected eight single nucleotide polymorphisms. No false positives were identified in 20 control samples. This suggests that DNA chip-based assays could be a valuable new technology for high-throughput, cost-efficient detection of genetic alterations.


UMLS:C2346513


UMLS:C0600596


NCBIGene:672


UMLS:C0043210

The paper describes a case of a woman diagnosed with congenital hypothyroidism due to a new deletion in the sodium/iodide symporter (NIS) gene. The patient was found to have an iodide transport defect (ITD), a rare disorder that prevents the thyroid from maintaining an iodide gradient. This defect was also found in the salivary glands and gastric mucosa. The patient's NIS gene had a 15 nucleotide deletion and a 15 nucleotide insertion, which resulted in a protein lacking five terminal amino acids. This mutation was found to be the direct cause of the ITD in the patient.


MONDO:0018612


NCBIGene:102637887


MONDO:0043103


UMLS:C1257858


UMLS:C1556096

The study reports on a Taiwanese family with type 2B von Willebrand disease (VWD), a genetic disorder that leads to abnormal bleeding. The family members, including a 55-year-old woman and her three children, all exhibited abnormal mucocutaneous bleeding since childhood. Laboratory findings showed normal PT, PTT, and platelet count, but an absence of high-molecular weight (HMW) multimer. Genetic analysis revealed a C to T transition at nucleotide 3916 resulting in Arg 1306 Trp (R1306W) substitution in the von Willebrand factor (VWF) gene. This mutation increases the affinity of plasma VWF for platelets, causing loss of HMW multimers and often thrombocytopenia. This is the first report of type 2B VWD in a Taiwanese Chinese family with the R1306W mutation in the VWF gene.


PUBCHEM.COMPOUND:86572950


UMLS:C5185280


UMLS:C0195893

The paper discusses the resurgence of interest in the surgical treatment of Parkinson's disease (PD), particularly posteroventral pallidotomy and ventrolateral thalamotomy. While pallidotomy improves both "on" and "off" symptoms of PD, pallidal stimulation only improves bradykinesia and rigidity to a minor extent. However, it does improve levodopa-induced dyskinesias. Despite this, the high costs of bilateral implants and the difficulty most patients experience in handling the devices raise questions about whether bilateral pallidal stimulation is a real alternative to pallidotomy.


UMLS:C0001164


UMLS:C2721376


NCBIGene:100102

The study investigated the PCSK9 gene in 51 Norwegian subjects diagnosed with familial hypercholesterolemia, where other common mutations had been ruled out. Two new missense mutations were found in the PCSK9 gene's catalytic subdomain. Two patients were heterozygotes for D374Y, and one was a double heterozygote for D374Y and N157K. The D374Y mutation was found to segregate with hypercholesterolemia in two families. These findings support the idea that PCSK9 gene mutations cause autosomal dominant hypercholesterolemia.


UMLS:C4550583


UMLS:C0028424


UMLS:C0410220

The study found that Desmin-related myopathies (DRMs), a group of muscle disorders, are caused by mutations in the desmin and the alpha-B crystallin genes. However, the genetic basis of other forms of DRMs, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), was unknown. The researchers identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy. They found a linkage of the disease to the SEPN1 locus in the original MB-DRM German family and a homozygous SEPN1 deletion in the affected patients. The study suggests that MB-DRM should be categorized as SEPN-RM.


MONDO:0100100


NCIT:C35381


UMLS:C3551580

Homozygous SEPN1 deletion (del 92 nucleotide -19/+73)


UMLS:C0043210

The paper discusses a case of a 35-year-old woman who accidentally received an overdose of epinephrine, leading to severe but temporary left ventricular systolic and diastolic dysfunction. The case highlights the serious consequences of medical errors and emphasizes the need for improved medication labeling and staff supervision.


PUBCHEM.COMPOUND:5816


MONDO:0004876

Left ventricular systolic and diastolic dysfunction


UMLS:C0376531


PUBCHEM.COMPOUND:5533

The study investigates the effects of the antidepressant trazodone on dopamine-dependent behaviors in rats. Trazodone is a 5-HT 2A/2C receptor antagonist. The study found that trazodone at doses of 2.5-20 mg/kg did not induce catalepsy or block striatal D2 DA receptors. However, at doses of 30, 40, and 50 mg/kg, it did induce catalepsy and block postsynaptic striatal D2 DA receptors. Furthermore, at doses of 5, 10, and 20 mg/kg, trazodone blocked 5-HT 2A and 5-HT 2C receptors, releasing nigrostriatal DAergic neurons from tonic inhibition caused by 5-HT, and thereby potentiating dexamphetamine stereotypy and antagonizing haloperidol catalepsy.


PUBCHEM.COMPOUND:5533


NCBIGene:7045

The study aimed to identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or granular corneal dystrophy (GCD). Mutations were found in 14 of 18 patients with LCD and all 19 patients with GCD. Three novel heterozygous mutations were found in LCD patients, and one novel mutation was found in a GCD patient. Arg124Cys and Arg555Trp were identified as the predominant mutations causing LCD and GCD, respectively. The novel mutations identified were associated with distinct phenotypes.


UMLS:C1837032


UMLS:C1866434


UMLS:C5212651


UMLS:C2317657

The study found that a specific mutation in the ANKH gene, a -4-basepair G-to-A transition in the 5'-untranslated region, is associated with sporadic chondrocalcinosis. This mutation promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate (PPi). The mutation was found to increase the risk of chondrocalcinosis in patients. The study also found that different ANKH mutations may have different effects on the disease's clinical phenotypes and severity.


UMLS:C2317657

Extracellular inorganic pyrophosphate (PPi)


UMLS:C2317657


UMLS:C0520259

may promote disease by divergent effects on extracellular PPi and chondrocyte hypertrophy


NCBIGene:673

The study investigated the role of BRAF gene and its polymorphisms in melanoma susceptibility. The researchers screened peripheral blood DNA from 184 familial melanoma cases for BRAF promoter variants and identified a promoter insertion/deletion linked with a previously described BRAF polymorphism. However, upon further investigation with a larger sample size, they found no significant association between the BRAF polymorphism and melanoma susceptibility. They also found no association between the BRAF genotype and the number of benign or atypical nevi in either the cases or controls.


UMLS:C0796451


UMLS:C1285573


UMLS:C4520938

The study investigates the influence of SLCO1B1*5, *15 and *15+C1007G variants on the functional properties of OATP1B1 protein. The research used transient expression systems of HEK293 and HeLa cells and substrates like endogenous conjugates and statins. The transporting activities of cells expressing these variants decreased significantly, except for simvastatin. The study suggests that 521T>C, a common single nucleotide polymorphism (SNP) in these variants, is the key determinant of their functional properties. The decreased activities of these variant proteins are mainly caused by a sorting error produced by this SNP.


PUBCHEM.COMPOUND:14365279

functional properties of SLCO1B1*5, *15 and *15+C1007G


PUBCHEM.COMPOUND:14365279

activities of SLCO1B1*5, *15 and *15+C1007G


NCBIGene:102815652

The study identifies a gene associated with a form of degenerative ataxia, a neurodegenerative disorder. The gene, located on chromosome 16q22.1, is linked to autosomal dominant cerebellar ataxia (ADCA) and is characterized by a single-nucleotide substitution in the 5' untranslated region. The gene encodes a protein, puratrophin-1, which plays a role in intracellular signaling and actin dynamics at the Golgi apparatus. The study suggests that a single-nucleotide substitution in the 5' untranslated region could be associated with protein aggregation, and that the guanine-nucleotide exchange factor (GEF) protein is associated with cerebellar degeneration in humans.


UMLS:C4763489


PR:000012861

Intracellular signaling and actin dynamics


PR:000012861


NCBIGene:8198023

Guanine-nucleotide exchange factor (GEF)


UMLS:C4086889

Congenital disorder of glycosylation-Ic (CDG-Ic)

The paper describes a new cause of congenital disorder of glycosylation-Ic (CDG-Ic) in a young girl who exhibits a mild CDG phenotype. The girl's cells accumulated lipid-linked oligosaccharides lacking three glucose residues. Sequencing of the ALG6 gene showed a novel point mutation (338G>A). However, the patient does not carry any paternal DNA markers extending 33kb from the ALG6 region. Microsatellite analysis extended the abnormal region to at least 2.5Mb. High-resolution karyotyping confirmed a deletion (10-12Mb) [del(1)(p31.2p32.3)] and found no structural abnormalities in the father, suggesting a de novo event. This extends the causes of CDG to larger DNA deletions and identifies the first Japanese CDG-Ic mutation.


UMLS:C0007634


NCBIGene:29929


UMLS:C1719039


UMLS:C0015671


MONDO:0015814

The study investigates genomic aberrations in primary cutaneous large B-cell lymphoma (PCLBCL). The most recurrent alterations in primary cutaneous follicle center lymphoma (PCFCL) were DNA amplifications at 2p16.1 and deletion of chromosome 14q32.33. In PCLBCL, leg type, the most prominent aberrations were DNA amplification of 18q21.31-q21.33, including the BCL-2 and MALT1 genes, and deletions of a small region within 9p21.3 containing the CDKN2A, CDKN2B, and NSG-x genes. The study found prominent differences in chromosomal alterations between PCFCL and PCLBCL, leg type, supporting their classification as separate entities. Inactivation of CDKN2A by either deletion or methylation of its promoter could be an important prognostic parameter for the group of PCLBCL, leg type.


MONDO:0006569


NCBIGene:1029


NCIT:C167282

The study investigated the role of missense mutations in the hormone-binding domain of the mineralocorticoid receptor (MR) gene in hypertension among Japanese patients. The S810L mutation, previously linked to early-onset hypertension, was not found in the studied population. However, a new missense mutation, F826Y, was identified in three patients. This mutation, located in the MR hormone-binding domain, could potentially affect ligand affinity. The F826Y mutation was also found in 13 individuals in a general Japanese population. The study suggests that this mutation does not significantly affect hypertension, but it may contribute to clinical phenotypes through its effects on MR.


NCIT:C167282


NCBITaxon:31643

The paper discusses the definition and management of anemia in patients infected with Hepatitis C Virus (HCV). Chronic HCV infection can lead to serious liver diseases. The best treatment currently is a combination therapy of pegylated interferon and ribavirin, which is effective in about 50% of patients. However, this treatment can cause hemolytic anemia, especially problematic in patients with renal or cardiovascular disorders. Anemia can increase the risk of morbidity and mortality and negatively affect cerebral function and quality of life. Ribavirin-associated anemia can be reversed by reducing the dose or discontinuing the treatment, but this decreases the treatment's effectiveness. Recombinant human erythropoietin has been used to manage this anemia but has potential disadvantages. Viramidine, a prodrug of ribavirin, could maintain the virologic efficacy of ribavirin while decreasing the risk of hemolytic anemia in chronic hepatitis C patients.


UMLS:C0907160


PUBCHEM.COMPOUND:37542


MONDO:0002280


PUBCHEM.COMPOUND:162010


UMLS:C3641791

The study found that transgenic rats with low brain angiotensinogen (TGR) showed a greater increase in left ventricular pressure and maximal contraction when exposed to the beta-adrenoceptor agonist isoproterenol (Iso). The hypertrophy induced by Iso treatment was significantly higher in TGR than in Sprague-Dawley (SD) rats. This increased sensitivity to beta-AR agonist-induced cardiac inotropic response and hypertrophy in TGR rats may be due to chronically low sympathetic outflow directed to the heart.


PUBCHEM.COMPOUND:522930


UMLS:C3641791


PUBCHEM.COMPOUND:4171


UMLS:C5772091

The study identifies the nuclear localization signal (NLS) in the C-terminal region of the ETV6 protein, which is crucial for hematopoiesis in neonatal bone marrow and is often a target in human cancer. The researchers found that ETV6 proteins with mutations outside of amino acids 332-452 localize to the nucleus, while those with mutations within this range remain in the cytoplasm. This suggests that residues 332-452 mediate the nuclear localization of ETV6.


UMLS:C1874190

ETV6 proteins with mutations outside of amino acids 332-452


UMLS:C1874190

ETV6 proteins with mutations within amino acids 332-452


UMLS:C1158286

Fragment of ETV6 comprised of amino acids 332-452


NCBITaxon:4039

The study investigates the effects of Daucus carota seeds on cognitive functions, cholesterol levels, and brain cholinesterase activity in mice. The extract of Daucus carota seeds showed significant improvement in memory scores of young and aged mice and reversed the amnesia induced by scopolamine and diazepam. It also significantly reduced the brain acetylcholinesterase activity and cholesterol levels in young and aged mice. Therefore, Daucus carota may be a useful remedy for managing cognitive dysfunctions due to its memory improving, cholesterol lowering, and anticholinesterase activities.


NCBITaxon:4039


NCBIGene:17986

The study investigates the role of mutations in the Norrie disease (NDP) gene in retinal diseases such as Norrie disease, X-linked familial exudative vitreoretinopathy (FEVR), Coat's disease, and retinopathy of prematurity (ROP). Two novel mutations in the NDP gene were identified: Leu103Val in one FEVR patient and His43Arg in twin Norrie disease patients. A 14-bp deletion in the 5' untranslated region of the NDP gene was found in three cases of regressed ROP. Only two of the 13 Norrie-FEVR index cases had the full features of Norrie disease with deafness and mental retardation.


NCBIGene:17986

X-linked familial exudative vitreoretinopathy (FEVR)


UMLS:C1840187


UMLS:C3510375


NCBIGene:19260

The study investigates the association of three PTPN22 polymorphisms in two Caucasian populations, the Czechs and Azeri, with type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The polymorphisms at positions -1123, +1858, and +2740 were analyzed. The results showed that only the minor allele at PTPN22 codon 620 was associated with T1D or JIA in both populations. The other two polymorphisms (-1123 and +2740) did not independently contribute to the risk of autoimmunity.


UMLS:C2677421


UMLS:C0007457


NCBIGene:93589

The study identifies a mutation in the CACNA2D4 gene, which is responsible for retinal signal transmission, as the cause of autosomal recessive cone dystrophy. This mutation was found in two siblings who were initially diagnosed with night blindness. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame, leading to a profound loss of retinal signaling and abnormal morphology of ribbon synapses in rods and cones.


NCIT:C167282


UniProtKB:A0A0G2Z2I7


UMLS:C3845273

The study reports a new missense mutation, H194Q, in the TBX1 gene associated with Shprintzen syndrome. It was found that this, and two other previously reported missense mutations, result in a gain of function, possibly through the stabilization of the protein dimer DNA complex. This suggests that TBX1 gain-of-function mutations can lead to the same phenotypic spectrum as haploinsufficiency caused by loss-of-function mutations or deletions.


UMLS:C4684429


NCBIGene:5925

The study aimed to determine the frequency of loss of heterozygosity (LOH) of the RB1 gene in retinoblastoma (RB) patients in India and to use RB1 molecular deletion and microsatellite-based linkage analysis in genetic counseling. LOH was found in 72.9% of RB patients, but no association was found with other clinical parameters. Seven germline deletions were identified, with the maternal allele more frequently lost. A disease co-segregating haplotype was detected in two hereditary autosomal dominant cases. This is the first report from India where molecular testing has been applied for RB families in conjunction with genetic counseling.


NCBIGene:34435


UMLS:C4313882


UMLS:C0018591


UMLS:C5560102


NCBIGene:3664

The study investigates the role of two genes, FGFR1 and IRF6, in tooth agenesis, a condition where teeth are developmentally missing. The research found that the same variants in the IRF6 gene associated with isolated orofacial clefts are also associated with tooth agenesis. Additionally, it was found that premolar agenesis is associated with FGFR1 and IRF6 markers. The data also suggests that IRF6 interacts with MSX1 and TGFA.


NCBIGene:2260


NCBIGene:3664


NCBIGene:1572

The study investigates the genetic polymorphism of the CYP2F1 gene, a human cytochrome P450 expressed in lung tissue and involved in the metabolism of pneumotoxicants with potential carcinogenic effects. The research was conducted on DNA samples from 90 French Caucasians, including 44 lung cancer patients and 46 control individuals. The study identified 24 new mutations and seven allelic variants of the CYP2F1 gene. The most frequent variant, CYP2F1*2A, contains nine mutations, including a 1-bp insertion that likely results in a severely truncated protein with no catalytic activity. Around 7% of the population were homozygotes for this frameshift mutation, suggesting interindividual variation in CYP2F1 activity and potential differences in toxic response to pneumotoxicants and susceptibility to certain chemically induced diseases. However, no evidence was found linking the CYP2F1 genetic polymorphism to the pathogenesis of lung cancer.


NCBIGene:1572


UMLS:C0079380


UMLS:C5421449

has no implications in the pathogenesis of


PUBCHEM.COMPOUND:2724354

The study investigates the effects of succimer, a chelating agent, on rats exposed to lead (Pb). The results show that succimer treatment significantly improved learning, attention, and arousal regulation in lead-exposed rats. However, the treatment's effectiveness varied depending on the level of lead exposure and the specific cognitive deficit. Interestingly, succimer treatment in rats not previously exposed to lead resulted in lasting cognitive and affective dysfunction. These findings suggest that succimer treatment could potentially improve cognitive outcomes in lead-exposed children, but it should not be used in children without elevated levels of lead or other heavy metals.


PUBCHEM.COMPOUND:2724354


UMLS:C5239128

The study investigates the genetic predisposition to nonalcoholic steatohepatitis (NASH) in the Japanese population. It found that the Val175Met variant allele of the phosphatidylethanolamine N-methyltransferase (PEMT) gene, which impairs PEMT activity, was significantly more common in NASH patients than in healthy volunteers. This suggests that carriers of the Val175Met variant are more susceptible to NASH. Furthermore, among NASH patients, those carrying the Val175Met variant had a significantly lower body mass index and non-obese patients were significantly more frequent.


UMLS:C5239128


UMLS:C0426650


NCBIGene:64102

The study investigates the association of tenomodulin (TNMD), a gene involved in angiogenesis, with obesity and diabetes risk. The study found that certain single nucleotide polymorphisms (SNPs) of the TNMD gene were associated with adiposity and glucose metabolism in men and women. In men, these SNPs were also associated with the conversion from impaired glucose tolerance (IGT) to type 2 diabetes (T2D). The risk of developing T2D was approximately 2-fold in individuals with genotypes associated with higher 2-hour plasma glucose levels.


NCBIGene:64102


UMLS:C0017431


PUBCHEM.COMPOUND:125130385

The study investigates the possibility of mosaicism in a family with X-linked retinitis pigmentosa (XLRP), a genetic disorder. The most frequent mutation in XLRP is the g.ORF15 + 652-653delAG mutation in the RPGR gene. The study found that a woman, who was considered to be an obligate carrier, showed a normal phenotype and genotype in lymphocytic DNA, indicating gonadal mosaicism. However, the mutation was identified in the genomic DNA of hair follicles, hair shaft, and buccal cells, indicating that the mutation is somatic. The woman transmitted the mutation to an asymptomatic daughter and to a son with XLRP.


UMLS:C0043210


PUBCHEM.COMPOUND:125130385


NCBIGene:90167

The study identified a novel mutation, p.R229G, in the FRMD7 gene as the cause of X-linked nystagmus (NYS) in a large Turkish family. The mutation was not found in 120 control individuals. The manifestation of the disease in affected females was influenced by skewed X inactivation.


NCIT:C167282


UMLS:C1507147

influences the manifestation of the disease in


MONDO:0012475

The study investigates Cone dystrophy with supernormal rod response (CDSRR), a retinal disorder. The research involved a clinical and genetic study of a cohort of patients with CDSRR. The study found that all patients had mutations in the KCNV2 gene, either in the homozygous or compound heterozygous state. No mutations were detected in the PDE6H gene. The CDSRR phenotype was associated with reduced visual acuity and color vision defects. Progression of the disease was observed in only three of seven patients with follow-up data.


UMLS:C0030705


MONDO:0012475


UMLS:C1969693

The study found a significant association between the rs729302 A allele, a single nucleotide polymorphism (SNP) in the Interferon regulatory factor 5 (IRF5) gene, and susceptibility to rheumatoid arthritis (RA) in the Japanese population. This association was particularly strong in patients who were negative for the human leukocyte antigen (HLA)-DRB1 shared epitope (SE). No other genotyped polymorphisms were significantly associated with RA susceptibility.


UMLS:C1969693

Human leukocyte antigen (HLA)-DRB1 shared epitope (SE) negative patients


NCBIGene:3663


UMLS:C0008096

The study investigates the clinical and cellular phenotypes of 24 children with mutations in the POLG1 gene, which is responsible for the production of the mitochondrial DNA (mtDNA) gamma polymerase. The majority of these children had Alpers syndrome, a severe phenotype characterized by hepatoencephalopathy and often mtDNA depletion. The study found that the cellular mtDNA content reflected the genotype more closely than the clinical features. Patients with tissue depletion of mtDNA all had at least one allele with a mutation in a catalytic domain or a nonsense mutation. The study also found a progressive, mosaic pattern of mtDNA depletion in cultured fibroblasts in some patients. The study suggests that POLG1 requires both polymerase and 3'-5' exonuclease activity in the same molecule, which is consistent with current functional models for eukaryotic DNA polymerases.


UMLS:C4313602


PR:000012973

Polymerase and 3'-5' Exonuclease Activity


UMLS:C4316215

The paper discusses the occurrence of significant urinary protein excretion, or proteinuria, in renal transplant recipients who have been switched from calcineurin inhibitors to mToR inhibitors, particularly sirolimus. This proteinuria is a major predictor of poor transplant outcomes. The paper suggests that the proteinuria may be due to the sirolimus itself, rather than a result of withdrawing from calcineurin inhibitors. The paper also discusses potential mechanisms for this proteinuria, including podocyte injury and focal segmental glomerulosclerosis, but the exact pathways remain unclear.


PUBCHEM.COMPOUND:17753749


PUBCHEM.COMPOUND:5284616


MONDO:0003634


NCBIGene:6446

The study investigates the role of serum- and glucocorticoid-inducible kinase 1 (SGK1) in doxorubicin-induced nephrotic syndrome. The research was conducted on gene-targeted mice lacking SGK1 and their wild-type littermates. The results showed that mice lacking SGK1 had blunted volume retention but were not protected against renal fibrosis during experimental nephrotic syndrome. The study also found that the absence of SGK1 led to a faster increase in serum urea concentrations, resulting in uremia and a reduced median survival.


PUBCHEM.COMPOUND:31703


MESH:D008821


UMLS:C3715020

The study investigates the association between certain single nucleotide polymorphisms (SNPs) and the risk of type 2 diabetes mellitus (T2DM) in the Korean population. The study found that SNPs in the genes HHEX, CDKN2A/B, CDKAL1, KCNQ1 and SLC30A8 are associated with an increased risk of T2DM. The strongest association was found with a variant of the CDKAL1 gene. However, SNPs in the genes IGF2BP2, FTO and WFS1 were not found to be associated with T2DM.


UMLS:C4737415


NCBIGene:100329528


NCBIGene:169026


PUBCHEM.COMPOUND:73505416


UMLS:C1384640

Heart weight, serum marker enzymes, lipid peroxidation, Ca+2 ATPase

Phenotype, Protein, Biological process, Protein

The study investigates the combined effects of green tea and vitamin E on various factors in rats induced with myocardial infarction using isoproterenol (ISO). The results showed that the administration of green tea and vitamin E together for 30 consecutive days significantly decreased heart weight, serum marker enzymes, lipid peroxidation, and Ca+2 ATPase, while significantly increasing body weight, endogenous antioxidants, Na+/K+ ATPase, and Mg+2 ATPase. This indicates a synergistic protective effect of green tea and vitamin E during ISO induced myocardial infarction in rats.


UMLS:C1384640

Body weight, endogenous antioxidants, Na+/K+ ATPase, Mg+2 ATPase


UMLS:C0796451

The study investigates the role of the Met326Ile polymorphism in the p85alpha regulatory subunit of the Phosphatidylinositol (PI) 3-kinase gene in women with polycystic ovary syndrome (PCOS). The polymorphism was not found to be a major determinant for the development of PCOS. However, it was found that carriers with the Met326Met genotype had higher serum 17-hydroxyprogesterone (17-OHP) and free testosterone levels compared to those carrying at least one variant 326Ile allele.


UMLS:C1285573


UMLS:C0079627

The study investigates a rare structural rearrangement known as insertional translocations (IT) between chromosomes 3 and 13 in a three-generation pedigree. The offspring of IT balanced carriers are at high risk of having either pure partial trisomy or monosomy for the inserted segment. The study found that the phenotype of pure monosomy included deafness, duodenal stenosis, developmental and growth delay, vertebral anomalies, and facial dysmorphisms. The trisomy was manifested by only minor dysmorphisms. The study also investigated PCDH9 (protocadherin-9) gene as a candidate gene for deafness in both families but found no mutations. The study concluded that AUNA1 deafness does not share a common etiology with deafness associated with monosomy 13q21.2-q31.3.


MONDO:0020639


NCBIGene:211712


NCBIGene:81624


UMLS:C5380628

The study found an association between the 5-HTTLPR polymorphic element in the serotonin transporter gene (SLC6A4) and the risk of Parkinson's disease (PD) in the Italian population. The S/S genotype of this polymorphism was found to increase the risk of PD. However, the single nucleotide polymorphism rs25531 in the SLC6A4 promoter and the haplotype 5-HTTLPR/rs25531 were not associated with PD risk.


UMLS:C1261533


UMLS:C4075927

Iron-refractory iron deficiency anemia (IRIDA)

The study reports two new mutations in the matriptase-2 (TMPRSS6) gene in monozygotic twin girls with iron-refractory iron deficiency anemia (IRIDA). The first mutation is a frameshift mutation (P686fs) caused by the insertion of four nucleotides in exon 16, which is predicted to terminate translation before the catalytic serine. The second mutation is a missense mutation (A118D) in the SEA domain of the extracellular stem region of matriptase-2, caused by a di-nucleotide substitution in exon 3. Both mutations lead to ineffective suppression of hepcidin transcription. The A118D mutation also causes an intra-molecular structural imbalance that impairs matriptase-2 activation. These findings expand the known mutations associated with IRIDA and show that mutations in protease regions other than the catalytic domain can significantly impact matriptase-2's regulatory role during iron deficiency.


UMLS:C1515820

The study found that renal failure developed in two patients with AIDS who were on tenofovir disoproxil fumarate as part of their antiretroviral regimen and were receiving a prolonged course of vancomycin therapy for osteomyelitis. The study suggests that tenofovir may increase the risk of renal failure during prolonged administration of vancomycin.


PUBCHEM.COMPOUND:6398764

Fanconi syndrome and renal insufficiency


UMLS:C5771686


PUBCHEM.COMPOUND:464205


PUBCHEM.COMPOUND:60838

The study investigates the association between single nucleotide polymorphisms (SNPs) and severe myelosuppression, a side effect of the anti-neoplastic agent irinotecan. The study found that an intronic SNP, rs2622604, in the ABCG2 gene is significantly associated with severe myelosuppression. This suggests that a genetic polymorphism in ABCG2 might alter the transport activity for the drug and increase the systemic circulation level of irinotecan, leading to severe myelosuppression.


UMLS:C4737415


UMLS:C5421449


UMLS:C5421449

Systemic circulation level of irinotecan


UMLS:C0150905

Fulminant hepatic failure (FHF) and cerebral edema

The paper discusses the case of a 27-year-old female patient with fulminant hepatic failure (FHF) and cerebral edema due to acetaminophen overdose. Despite initial treatments, her intracranial pressure remained high. The medical team then initiated therapeutic hypothermia for 5 days, which resulted in the resolution of her cerebral edema and intracranial hypertension. By the time of discharge, the patient had fully recovered her neurological and hepatic functions. The paper suggests that prolonged therapeutic hypothermia could be a life-saving treatment for patients with FHF and cerebral edema from acetaminophen overdose, and calls for a clinical trial.


UMLS:C3260958

Cerebral edema and intracranial hypertension


UMLS:C0150905


UniProtKB:A0A8S3QKA6

The study investigates the molecular mechanisms involved in prostate cancer metastasis and bone remodeling. It was found that nuclear factor (NF)-kappaB, activated by tumor necrosis factor (TNF)-alpha, plays a role in the adhesion and invasion of certain prostate cancer cells. This increased metastatic potential was linked to the upregulation of osteopontin, osteocalcin, and collagen IA1. Bone morphogenetic protein (BMP)-2 was also found to enhance the invasive properties of certain cells and mediate TNF-alpha-induced invasion. The study suggests that the interactions between these factors may be crucial in enhancing the metastatic potential of prostate cancer cells and in bone remodeling.


UMLS:C0527443


PUBCHEM.COMPOUND:44356648


PUBCHEM.COMPOUND:44356648

BMP-2 and BMP-dependent Smad transcripts


MESH:D017077

Conditioned media of TNF-alpha-stimulated C4-2B cells

Mineralization of MC3T3-E1 osteoblast cells


UMLS:C4312843

The study investigates the association between FGFR4 Gly388Arg polymorphism and prostate cancer risk in Scottish men. The FGFR4 gene, which is more abundantly expressed in malignant than benign prostate cells, has a single nucleotide polymorphism at position 388 that results in the substitution of glycine (Gly) with arginine (Arg). The study found no overall association between the Arg allele and increased prostate cancer risk. However, a higher incidence of the heterozygous ArgGly genotype was found in cancer cases than in the combined group of BPH and controls. This difference was statistically significant between cancer and BPH patients but not between cancer cases and community controls.


UMLS:C0683223


UMLS:C1285573


PUBCHEM.COMPOUND:4510

The study investigates the effect of nimodipine (NIMO) on memory impairment caused by nitroglycerin-induced hypotension in adult mice. The results show that mice subjected to hypotensive episodes exhibited a significant decrease in latency time, indicating memory impairment. However, this impairment was attenuated when NIMO was administered at the onset of hypotension. The study suggests that NIMO may preserve long-term associative memory by maintaining calcium homeostasis during hypotension.


MONDO:0005469


UMLS:C2194151


UMLS:C0079656

The study investigates the role of Ras genes in the development of the lens and cornea in mice. The researchers created transgenic mice with a constantly active version of the human H-Ras gene in their lenses and corneas. The activation of this gene led to increased cell proliferation in both tissues, but this was sustained in the cornea and not in the lens. The study also found that Ras activation was sufficient to initiate, but not complete, lens fiber differentiation. The results suggest that Ras activation induces different responses in the lens and cornea due to the activation of distinct sets of downstream targets.


REACT:R-HSA-442982


UMLS:C0008096

The study investigates the risk of nephropathy (kidney damage) in children after the consumption of nonionic contrast media (CM) during cardiac angiography. The study involved 80 patients under 18 years who received either iopromide or iohexol. The incidence of contrast media-induced nephropathy (CIN) was found to be 18.75%, with a higher incidence in those who received larger doses of CM. The type of CM consumed and the presence of cyanosis did not significantly affect the incidence of CIN. The study concludes that while CIN is usually reversible, more attention is needed to prevent this complication in children.


UMLS:C0521968


UMLS:C1393730


PUBCHEM.COMPOUND:163091

The study investigates the efficacy and safety of asenapine, a drug approved for acute treatment of schizophrenia or manic/mixed episodes associated with bipolar I disorder. In a 6-week trial involving 458 patients with acute schizophrenia, asenapine showed significant reductions in the Positive and Negative Syndrome Scale total score compared to placebo. The efficacy was similar to haloperidol, another drug used in the trial. However, asenapine had fewer adverse events, especially extrapyramidal symptoms, compared to haloperidol.


PUBCHEM.COMPOUND:3559


PUBCHEM.COMPOUND:163091

Positive and Negative Syndrome Scale total score


PUBCHEM.COMPOUND:163091


UMLS:C4048252

The study investigates the use of a combination of nelarabine, etoposide, and cyclophosphamide as salvage therapy in seven children with refractory or relapsed T-cell leukaemia or lymphoma. The most common side effects were sensory and motor neuropathy and musculoskeletal pain. The hematological toxicity was greater for the combination than nelarabine alone, but the time to neutrophil and platelet recovery was consistent with other salvage therapies. All patients showed some response to the therapy, and five of the seven achieved complete remission after one or two courses of the combined therapy. The study concludes that the combination therapy is safe, but neurological toxicity must be closely monitored.


UMLS:C4048252

Sensory and motor neuropathy, Musculoskeletal pain


UMLS:C4048252

recovery time consistent with other salvage therapies


UMLS:C4048252


UMLS:C0030705

The study analyzed the distribution and frequency of lamivudine (LAM) and tenofovir (TDF) resistance mutations in patients co-infected with HIV and hepatitis B virus (HBV). Out of 847 patients with HIV, 28 were co-infected with HBV. The HBV genotypes among these patients were A, D, G, and F. LAM resistance substitutions were detected in 50% of the patients with viremia. Prolonged use of LAM is associated with changes in the HBV genome, including substitutions that may elicit a vaccine escape phenotype. No TDF resistance change was detected after prolonged use of TDF.


UMLS:C5415942


NCBIGene:2703

The study identifies a new mutation in the GJA8 gene that is responsible for congenital cataract-microcornea syndrome (CCMC) in a Chinese family. The mutation, c.592C-->T, was found in exon 2 of the GJA8 gene and results in the substitution of arginine to tryptophan at codon 198 (p.R198W). This mutation was present in all affected family members but not in unaffected relatives or in a control group of 100 normal individuals. This is the first report linking this specific mutation to CCMC, expanding the known mutation spectrum of GJA8 associated with congenital cataract and microcornea.


NCBIGene:170302

The study screened DNA samples from 613 individuals with intellectual disability (ID) for mutations in the Aristaless-related homeobox (ARX) gene. The ARX gene is known to cause a range of human disorders, from severe brain and genital malformations to non-syndromic ID. The study identified eight families with six mutations in the ARX gene. The study also found that protein mislocalization increased as a function of pA2 tract length and phenotypic severity, suggesting a correlation between genotype and cellular phenotype.


UMLS:C5212651


PR:000000001


EFO:0000513


UMLS:C0807010

The study investigates the association of the 677 C>T substitution in the MTHFR gene with male infertility in an Indian population. The study involved genotyping 837 individuals, including 522 infertile and 315 fertile individuals. The results showed a significantly higher frequency of the mutant (T) allele and genotypes (CT+TT) in infertile individuals compared to fertile controls. A meta-analysis of published studies also confirmed a significant association of the 677C>T polymorphism with male infertility, establishing it as a risk factor.


UMLS:C3476123


UMLS:C1706632


UMLS:C0017431


UMLS:C0965144

The study found that the HIV-1 Tat protein activates the enzyme indoleamine 2,3 dioxygenase (IDO) in organotypic hippocampal slice cultures (OHSCs) from mice, leading to depressive-like behavior. This activation is dependent on the p38 mitogen-activated protein kinase (MAPK) pathway, but not on IFNγ. The activation of IDO also leads to the synthesis and release of TNFα and IL-6 proteins, and increased expression of iNOS and SERT. Inhibiting the p38 MAPK pathway reduced the Tat-induced expression of IDO and these other proteins. This suggests that targeting IDO or the p38 MAPK pathway could be a potential treatment for depressive disorders in HIV-1-infected patients.


PUBCHEM.COMPOUND:159457772


UMLS:C0291985


PANTHER.PATHWAY:P05918

Depressive disorders in HIV-1-infected patients


NCBIGene:123273927

The study investigates the role of two transcription factors, Single minded 2 (SIM2) and V-ets erythroblastosis virus E26 oncogene homolog2 (ETS2), located on the 21st chromosome, in Down syndrome (DS). The study found high heterozygosity in ETS2 rs461155 in DS. A significantly lower frequency of SIM2 C-G haplotype was observed in individuals with DS and their fathers. The rs2073601 'A' allele, which causes a nonsynonymous substitution of leucine to methionine, may play a role in DS in the studied population.


NCBIGene:100145687

V-ets erythroblastosis virus E26 oncogene homolog2 (ETS2)


NCBIGene:2114


UMLS:C1319025


UMLS:C1969693


UMLS:C4330735

The study investigates the effects of tobacco nitrosamine (NNK) and secreted mammalian Ly-6/urokinase plasminogen activator receptor related protein-1 (SLURP-1) on the expression of genes related to tumorigenesis in human bronchial and oral epithelial cells. NNK was found to stimulate the expression of oncogenic genes, which could be abolished by SLURP-1. NNK also upregulated anti-apoptotic genes and downregulated pro-apoptotic and tumor suppressor genes, effects that could be partially abolished by SLURP-1. The results provide insights into the molecular mechanisms of the reciprocal effects of NNK and SLURP-1 on tumorigenic transformation of bronchial and oral epithelial cells.


UMLS:C2742339


UMLS:C4330735


NCBITaxon:351680

The study investigates the prevalence of the STAT4 G > C (rs7582694) polymorphism in patients with systemic lupus erythematosus (SLE) in the Polish population. The findings suggest that patients with the STAT4 C/G and CC genotypes have an increased risk of SLE incidence. The study also found an increased frequency of STAT4 C/C and C/G genotypes in SLE patients with renal symptoms and neurologic manifestations. The STAT4 C (rs7582694) variant was associated with the development of SLE and occurrence of some clinical manifestations of the disease.


UMLS:C4699318


NCBIGene:105373805


UMLS:C4033429

The study investigates the protective effect of Solidago virgaurea extract on isoproterenol-induced cardiotoxicity in rats. The injection of isoproterenol led to a significant increase in various enzymes, cholesterol, triglycerides, fatty acid, and cardiac tissue malondialdehyde (MDA), and nitric oxide levels, and a decrease in glutathione and superoxide dismutase in cardiac tissue. Pretreatment with S. virgaurea extract prevented these alterations, suggesting its protective effect by decreasing MDA level and increasing the antioxidant status in isoproterenol-treated rats.


PUBCHEM.COMPOUND:3779

increases MDA level and decreases antioxidant status in


UMLS:C4033429


PUBCHEM.COMPOUND:1615

The study, which is the largest of its kind to date, compared the psychological effects of ecstasy (MDMA) on current users, past users (who had been abstinent for 4 or more years), and various control groups. The results showed that both current and past MDMA users had greater deficits in memory, depression, impulsiveness, and sleep disturbance than all control groups. Notably, past users showed little signs of recovery despite prolonged abstinence. The findings suggest a concerning prognosis for the current generation of ecstasy users.


PUBCHEM.COMPOUND:1615


UMLS:C2945649


NCBIGene:9456

The study investigates the association of polymorphisms in the HOMER1 gene with the chronic complications of levodopa therapy in Parkinson's disease patients. The findings suggest that the rs4704559 G allele of the HOMER1 gene is associated with a lower prevalence of dyskinesia and visual hallucinations, indicating a protective role against the adverse effects of levodopa.


UMLS:C3538700


PUBCHEM.COMPOUND:3017

The study investigates the effects of diazinon, a widely used insecticide, on lipid metabolism in rats, and the potential ameliorating effects of crocin. The research found that diazinon exposure led to increased levels of cholesterol, triglyceride, and LDL, and decreased ERK1/2 protein phosphorylation and LDLr transcript. However, crocin was found to reduce these effects, suggesting it could be a protective agent against diazinon-induced hyperlipemia by modulating the ERK pathway and increasing LDLr expression.


PUBCHEM.COMPOUND:5281233


PUBCHEM.COMPOUND:3017


PUBCHEM.COMPOUND:3345

The study aimed to compare the effectiveness of fentanyl, midazolam, and a combination of both in preventing etomidate-induced myoclonus. Patients were divided into four groups: no pretreatment, fentanyl, midazolam, and a combination of fentanyl and midazolam. The incidence of myoclonus was significantly lower in the fentanyl and combination groups, indicating that pretreatment with fentanyl or a combination of fentanyl and midazolam is effective in preventing etomidate-induced myoclonus.


PUBCHEM.COMPOUND:4192


PUBCHEM.COMPOUND:91758271


PUBCHEM.COMPOUND:5881

The study investigates the effects of dehydroepiandrosterone (DHEA) on amphetamine-induced schizophrenia models in mice. The results showed that DHEA significantly reduced hyper locomotion induced by amphetamine and increased catalepsy, but had no effect on climbing behavior. This suggests that DHEA may have neuroleptic-like effects and could potentially be used in the treatment of schizophrenia.


PUBCHEM.COMPOUND:5881


UniProtKB:A0A224X814

Discoidin domain receptors (DDR1 and DDR2)

The study investigates the inhibition of discoidin domain receptors (DDR1 and DDR2), a unique subfamily of receptor tyrosine kinases activated by triple-helical collagen, by cancer drugs imatinib and ponatinib, and the selective type II inhibitor DDR1-IN-1. These receptors have been associated with the progression of diseases like fibrosis, atherosclerosis, and cancer. Ponatinib was identified as the most potent inhibitor. The study also reveals structural differences between DDR1 and Abelson kinase (ABL), which may explain the selectivity of DDR1-IN-1 for DDR1. These inhibitors could be useful in treating conditions where DDR1 and DDR2 are overexpressed or mutated, such as lung cancer.


UniProtKB:A0A224X814


UMLS:C1722658


PUBCHEM.COMPOUND:72836888


UMLS:C4688377

DDR1 and DDR2 overexpression or mutation


UMLS:C0108048

has a crucial role in the pathogenesis of

The study investigates the role of Calbindin-D28k (CB), a major calcium-binding and buffering protein, in Alzheimer's disease (AD). The researchers created a new mouse model by crossing mice with 5 familial AD mutations (5XFAD) with CB knock-out (CBKO) mice. The results showed that the removal of CB in these mice led to significant neuronal loss in the subiculum area, increased apoptotic features, mitochondrial dysfunction, and reduced levels of certain synaptic molecules. This suggests that CB plays a crucial role in the pathogenesis of AD.


MESH:D008821


PUBCHEM.COMPOUND:247

The study investigates the cardioprotective effects of betaine on acute myocardial ischemia in rats. The rats were treated with betaine orally for 40 days and then induced with acute myocardial ischemic injury through isoproterenol injection. The results showed that betaine treatment significantly reduced the level of cardiac marker enzyme in the serum, prevented left ventricular remodeling, and maintained or enhanced the phosphorylation of STAT3. It also increased the ventricular expression of Bcl-2, reduced the level of Bax, and increased the ratio of Bcl-2/Bax. The protective role of betaine on myocardial damage was confirmed by histopathological examination.


PUBCHEM.COMPOUND:247


PUBCHEM.COMPOUND:247

maintains or enhances the phosphorylation of


NCBIGene:4280

Experimental autoimmune encephalomyelitis (EAE)

The study found that mice lacking the VPAC2 receptor, encoded by the VIPR2 gene, showed worsened symptoms of experimental autoimmune encephalomyelitis (EAE), a model for multiple sclerosis. These mice had increased levels of proinflammatory cytokines and reduced levels of anti-inflammatory cytokines in the central nervous system and lymph nodes. They also had fewer regulatory T cells (Tregs) in the lymph nodes, thymus, and central nervous system, and these Tregs had impaired suppressive activity. This suggests that the VPAC2 receptor plays a protective role against autoimmunity by promoting the expansion and maintenance of Tregs.


NCBIGene:22355


UniProtKB:A0A8C5XK19

The study found that Lactate dehydrogenase A (LDHA), a protein involved in the final step of aerobic glycolysis, is overexpressed in prostate cancer samples compared to benign prostate hyperplasia tissues. Inhibition or reduced expression of LDHA in prostate cancer cells resulted in decreased cell proliferation, migration, invasion, and increased cell apoptosis. This was associated with a decrease in the Warburg effect, a metabolic alteration common in cancer cells. The study suggests that LDHA could be a potential therapeutic target for prostate cancer.


UniProtKB:A0A8C5XK19


UMLS:C0871124

The study shows that prenatal caffeine exposure (PCE) can lead to intrauterine growth retardation (IUGR) in offspring, which is a risk factor for glomerulosclerosis. The research used a rat model to demonstrate that PCE can cause glomerulosclerosis in adult offspring and dysplasia of fetal kidneys. The study found that PCE reduces the expression of the renal angiotensin II receptor type 2 (AT2R) gene in adult offspring, which may mediate the development of glomerulosclerosis.


UMLS:C0745388


UMLS:C0871124

Renal angiotensin II receptor type 2 gene expression


NCBIGene:186

Renal angiotensin II receptor type 2 gene


UMLS:C5773038

The Zebrafish Integument Project (ZIP) has identified eleven new genes involved in skin development, including three novel skin genes: arhgef25b, fkbp10b, and megf6a. The study also discovered a new role for the Neuregulin 2a (Nrg2a)-ErbB2/3-AKT signaling pathway in the organization of epidermal cells during median fin fold (MFF) morphogenesis in zebrafish. In nrg2a mutant larvae, defects in ridge cell elongation resulted in thickened MFF edges. The study also identified Lgl2 as an antagonist of Nrg2a-ErbB signaling, revealing a significantly earlier role for Lgl2 during epidermal morphogenesis than previously known.


NCBIGene:102292733

Neuregulin 2a (Nrg2a)-ErbB2/3-AKT signaling pathway


NCBIGene:100006951


UniProtKB:I8U3U2


NCBIGene:1647

The study investigates the role of the DNA-damage response gene GADD45A in hematopoietic stem cells (HSCs). Unlike in other cellular systems, GADD45A expression in HSCs does not cause cell cycle arrest or alter the decision between cell survival and apoptosis. Instead, it strongly induces and accelerates the differentiation program in HSCs, leading to the generation of various blood cell lineages. This process is mediated by the activation of p38 Mitogen-activated protein kinase (MAPK) signaling. The study also found that γ-irradiation of HSCs induces their differentiation by upregulating endogenous GADD45A.


NCBIGene:1647


UMLS:C3494227


NCBIGene:1647

Megakaryocytic-erythroid, myeloid, and lymphoid lineages


UMLS:C5577422

The study investigates the adaptive resistance to anti-angiogenic therapy in a mouse model of cancer. The research found that potent angiogenesis inhibitors cause a reorganization of cancer cells around remaining blood vessels. This leads to a metabolic symbiosis where hypoxic cancer cells import glucose and export lactate, while normoxic cells import and catabolize lactate. This process is dependent on mTOR signaling. Inhibition of mTOR signaling disrupts this metabolic symbiosis, which is associated with upregulation of the glucose transporter GLUT2.


UMLS:C1956422


UMLS:C5560298


UMLS:C2984244


UMLS:C0201847

The study found that a high-salt diet in Wistar Kyoto/spontaneous hypertensive (WKY/SHR) rats led to severe proteinuria, renal inflammation, fibrosis, and tubular epithelial cell apoptosis. These effects were mainly non-pressure-related. The study identified that Hsp90β, TGF-β, HIF-1α, TNF-α, IL-6, and MCP-1 were highly expressed in response to salt loading. Hsp90β was found to play a key role in these effects through various cellular signalling events. Inhibition of Hsp90β or its knockdown significantly alleviated the high-salt-diet-induced proteinuria and renal damage without altering blood pressure. This was achieved by reversing activations of NF-κB, mTOR, and p38 signalling cascades. The study concluded that Hsp90β inhibition effectively ameliorated nephropathy due to renal hypoxia and oxidative stress.


UMLS:C2350567


UMLS:C0201783


MESH:D008821

The study investigates the role of 11β-HSD1, an enzyme that reactivates glucocorticoids in the liver, in nonalcoholic fatty liver disease (NAFLD) and metabolic syndrome. Male mice with a global and liver-specific loss of 11β-HSD1 function were fed a diet known to induce NAFLD. The results showed that these mice were not protected from metabolic disease or hepatosteatosis. However, mice with a global deficiency of 11β-HSD1 showed increased markers of hepatic inflammation, suggesting a role for 11β-HSD1 in preventing the transition to nonalcoholic steatohepatitis (NASH), a more severe form of NAFLD.


MESH:D008821


UMLS:C0525734


GO:0098846

The study investigates the changes in energy metabolism of human podocytes, cells that play a crucial role in the pathogenesis of diabetic nephropathy, under high glucose conditions. The researchers found that in normal glucose conditions, there is a stepwise activation of oxidative metabolism during cell differentiation. However, in high glucose conditions, this process is disrupted and a shift to glycolysis occurs, leading to lactic acidosis. The study also found that high glucose levels alter the expression of key regulators of oxidative metabolism and inhibit the expression of transcription factors MEF2C and MYF5. This inhibition mimics the glycolytic shift observed in high glucose conditions. Reduced expression of MEF2C, MYF5, and PGC-1α was also found in kidney tissue samples from patients with diabetic nephropathy.


UMLS:C0731793


UMLS:C0403518


UMLS:C4742930

The study investigates the protective role of brain-derived neurotrophic factor (BDNF) against doxorubicin (Dox)-induced cardiotoxicity. The research was conducted on Sprague Dawley rats and H9c2 cells. The results showed that BDNF significantly reduced Dox-induced cardiomyocyte apoptosis, oxidative stress, and cardiac dysfunction in rats. It also increased cell viability and inhibited apoptosis and DNA damage in Dox-treated H9c2 cells. The protective effect of BDNF was found to be mediated through the activation of Akt signalling pathway.


UMLS:C4742930


NCBIGene:2263

required for self-renewal and differentiation

The study found that the deletion of one copy of the FGF receptor 2 (FGFR2) in adult mouse airway basal cells results in changes in self-renewal and differentiation. FGFR2 signaling is associated with the maintenance of the expression of SOX2, a key transcription factor for basal cell self-renewal and differentiation. This suggests that subtle changes in receptor tyrosine kinase signaling can have significant effects, potentially explaining the numerous changes seen in cancer.


NCBIGene:2263


GO:0007169


NCBIGene:421314

The study found that the Miniature chromosome maintenance (MCM) protein, MCM8, plays a critical role in DNA repair and recombination. Overexpression and increased DNA copy number of MCM8 were found in various human malignancies, and this gain is associated with aggressive clinical features of several human cancers. Increased expression of MCM8 in prostate cancer is linked to cancer recurrence. The study also found that MCM8 binds with cyclin D1 and activates Rb protein phosphorylation by cyclin-dependent kinase 4. This interaction is required for Rb phosphorylation and S-phase entry in cancer cells. Therefore, the study concludes that the overexpression of MCM8 may play a critical role in human cancer development.


NCBIGene:421314


PUBCHEM.COMPOUND:72998476


UMLS:C2606711

The study investigates the role of the α-tubulin isotype TUBA1A mutation in brain development. The mutation was found to cause neurons to accumulate and glial cells to disperse along the rostral migratory stream in mice brains. The mutation also led to slowed migration and increased neuronal branching. The mutation increased the straightness of newly polymerized microtubules, suggesting a conformational change in the α/β-tubulin heterodimer. The study also found that Tuba8, another α-tubulin isotype, has different functions compared to Tuba1a. The findings highlight the importance of microtubule flexibility in nucleus-centrosome coupling and neuronal-branching regulation during neuronal migration.


UMLS:C4305153


UMLS:C2606711


UMLS:C1144013


UMLS:C1402048

The study found that thiamine deficiency (TD), often seen in chronic alcohol consumers, activates Hypoxia Inducible Factor-1α (HIF-1α) in mouse primary astrocytes. This activation leads to an increase in the expression of pro-apoptotic and pro-inflammatory HIF-1α target genes, resulting in apoptotic cell death. The inhibition of HIF-1α activity and thiamine repletion both reduced the expression of these genes and cell death.


UMLS:C3811709

pro-apoptotic and pro-inflammatory genes


UMLS:C5678467

Increased expression of pro-apoptotic and pro-inflammatory genes


GTOPDB:4973

Expression of pro-apoptotic HIF-1α target genes


UMLS:C0523918


UMLS:C1507310

Late-onset metachromatic leukodystrophy (MLD)

The study reports a new allele at the arylsulfatase A (ARSA) locus that causes late-onset metachromatic leukodystrophy (MLD). This allele involves a substitution of arginine84 with glutamine in the ARSA gene. Unlike alleles causing early-onset MLD, this substitution retains some ARSA activity. The study further supports the idea that varying degrees of residual ARSA activity are responsible for phenotypical variation in MLD.


UMLS:C2609412


UMLS:C0475756

Different degrees of residual ARSA activity


UMLS:C1857026

Phenylalanine hydroxylase (PAH) deficiency

The study identifies two new point mutations at codon 272 and 273 in the phenylalanine hydroxylase (PAH) gene, which are associated with classical phenylketonuria, a disease caused by a deficiency of hepatic PAH. These mutations were found in northeastern France or Belgium and are believed to contribute to the clinical heterogeneity seen in phenylketonuria.


NCBIGene:3256035


PUBCHEM.COMPOUND:4171

The study investigates the metabolism of the cardioselective beta-blocker metoprolol, which is under the genetic control of the debrisoquine/sparteine type. The two metabolic phenotypes, extensive (EM) and poor metabolizers (PM), show different stereoselective metabolism, resulting in higher beta-1 adrenoceptor antagonistic potency of racemic metoprolol in EMs. The study also explores if this applies to the beta-2 adrenoceptor antagonism by metoprolol. The results show that in PMs, metoprolol increased the terbutaline area under the plasma concentration vs. time curve (+67%). Higher metoprolol/alpha-hydroxymetoprolol ratios in PMs were predictive for higher R-/S-isomer ratios of unchanged drug. There was a difference in metoprolol potency with higher racemic metoprolol IC50 values in PMs than EMs.


PUBCHEM.COMPOUND:4171


PUBCHEM.COMPOUND:4171

increased the area under the plasma concentration vs. time curve of


PUBCHEM.COMPOUND:38853

The study investigates the role of midline cells of the B3 serotonin neurons in the medulla in the hypotensive response to methyldopa. In hypertensive rats, microinjection of methyldopa into the area of the midline B3 serotonin cell group in the ventral medulla caused a significant drop in blood pressure. This effect was abolished by the serotonin neurotoxin 5,7-dihydroxytryptamine (5,7-DHT) injected into the brain, but not by intraspinal injection of 5,7-DHT. The study concludes that the midline serotonin B3 cells in the medulla contribute to the hypotensive action of methyldopa.


PUBCHEM.COMPOUND:135502806


UMLS:C3496266


UMLS:C0445356

The study analyzed 80 unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) who were found to have deletions in the major deletion-rich region of the DMD gene. These individuals accounted for approximately 75% of 109 deletions of the gene among 181 patients. The study found that frameshift deletions of the gene resulted in a more severe phenotype than in-frame deletions, with two exceptions. This is in agreement with recent findings by Baumbach et al. and Koenig et al. but contrasts with findings by Malhotra et al. at the 5' end of the gene.


UMLS:C4313882


UMLS:C2910373


UMLS:C0030705

The study found that severe cardiovascular complications occurred in 8 out of 160 patients who were treated with terbutaline for preterm labor. The study also found that corticosteroid therapy and twin gestations could be predisposing factors.


PUBCHEM.COMPOUND:5403


UMLS:C4054701


UMLS:C5145420


UniProtKB:A0A077H1I5

The paper discusses the cloning and sequencing of the human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD). The researchers identified a 105-bp deletion in the VLCAD cDNA in two patients with VLCAD deficiency, which appears to be caused by exon skipping during VLCAD pre-mRNA processing. This is the first identified mutation causing VLCAD deficiency. The researchers also found that the deficiency of the normal VLCAD protein impairs long-chain fatty acid beta-oxidation activity in the patients' fibroblasts. Increasing VLCAD activity to about 20% of normal control fibroblast activity restored palmitic acid beta-oxidation flux to control levels, which could inform future gene therapy for VLCAD deficiency.


MONDO:0008723


UMLS:C5691518


NCBIGene:4988

The paper reports the identification of a human mu opiate receptor cDNA from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. The human mu opiate receptor shares 95% amino acid identity with the rat sequence. The receptor recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion. The receptor's effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. The receptor's gene is localized to 6q24-25. A polymorphism, producing a 3.7 kb band, may be useful in assessing this gene's involvement in neuropsychiatric disorders involving opiatergic systems.


NCBIGene:4988


UMLS:C0113037

may be useful in assessing this gene's involvement in


UMLS:C3850016

The study identified 14 families with ataxia-telangiectasia (A-T) where a mutation of the ATM gene is associated with a less severe clinical and cellular phenotype. In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site. The less severe phenotype in these patients is caused by some degree of normal splicing. The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia. Four families without this insertion were also identified. The mutations detected in two of these four families are missense mutations, which are normally rare in A-T patients.


NCBIGene:472

less severe clinical and cellular phenotype


UMLS:C1840433


UMLS:C0559892


UMLS:C1314210


UMLS:C5212651


PUBCHEM.COMPOUND:71157

The study investigates the effects of Nefiracetam, a pyrrolidone derivative, on apomorphine-induced amnesia. The results show that Nefiracetam can reverse the amnesia caused by apomorphine when administered during training. However, the co-administration of both drugs during training or 10 hours after training did not show any significant anti-amnesic effect. The study suggests that Nefiracetam enhances molecular processes in the early stages of events leading to memory consolidation.


PUBCHEM.COMPOUND:71157


UniProtKB:J3SCR7

The study investigates the role of Myotonic dystrophy protein kinase (DMPK) in cellular ion homeostasis. The research was conducted on skeletal muscle cells of wild-type and DMPK knockout mice. The findings suggest that DMPK is involved in modulating the initial events of excitation-contraction coupling in skeletal muscle. The absence of DMPK resulted in higher resting calcium ion concentration and altered open probability of voltage-dependent l-type calcium and sodium channels. The mutant myotubes also showed smaller and slower calcium responses upon triggering by acetylcholine or high external potassium.


MESH:D000074085


MESH:D000074085

voltage-dependent l-type calcium and sodium channels


MESH:D000074085

exhibit upon triggering by acetylcholine or high external potassium


NCBIGene:4720

The study reports the cloning of the cDNA of the remaining three human NADH:ubiquinone oxidoreductase subunits of the iron-sulfur protein (IP) fraction: NDUFS2, NDUFS3, and NDUFS6. These subunits show high homology with the corresponding bovine translation products. The NDUFS2 and NDUFS3 subunits were mapped to human chromosomes 1 and 11 respectively, while the NDUFS6 subunit may have a pseudogene present as signals were seen in chromosomes 5 and 6. The NDUFS2 and NDUFS3 subunits contain highly conserved phosphorylation sites, making them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients.


NCBIGene:4722


NCBIGene:4726


NCBIGene:4720

candidates for mutation detection studies in


UMLS:C0686754

Summary not provided or could not be parsed.


UMLS:C0686754


PUBCHEM.COMPOUND:25271810


PUBCHEM.COMPOUND:2554

The study found that the use of carbamazepine and vigabatrin in treating typical absence seizures in children was inappropriate and led to increased frequency of absences and development of myoclonic jerks in some cases. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide.


PUBCHEM.COMPOUND:5665


PUBCHEM.COMPOUND:3121

Sodium valproate, Lamotrigine, Ethosuximide


NCBIGene:693036

The study investigated the role of the hepatocyte nuclear factor (HNF)-6 gene in Type II diabetes and insulin secretion. The researchers cloned the coding region and intron-exon boundaries of the HNF-6 gene and examined them in patients with maturity-onset diabetes of the young (MODY) and late-onset Type II diabetes. They identified two silent and one missense variant (Pro75 Ala) but found no association between these variants and Type II diabetes or changes in insulin responses to glucose in the Caucasian population studied.


NCBIGene:693036


PUBCHEM.COMPOUND:157267022


UMLS:C1432643

The paper identifies a novel C-type lectin, Langerin, which is specific to Langerhans cells (LC) and is associated with Birbeck granules (BG), unique organelles found in LC. The study shows that Langerin is an endocytic receptor that induces the formation of BG. The transfection of Langerin cDNA into fibroblasts resulted in the creation of membrane structures with features of BG. The data suggests that the induction of BG is a result of the antigen-capture function of Langerin, which allows routing into these organelles and access to a nonclassical antigen-processing pathway.


MESH:C121916


UMLS:C1432643


UMLS:C0220896

The study aimed to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with a history of breast or ovarian cancer. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. Three BRCA1 abnormalities-5382insC, C61G, and 4153delA-accounted for 51%, 20%, and 11% of the identified mutations, respectively.


NCBIGene:100485564


UMLS:C5234981


PUBCHEM.COMPOUND:6005

The paper discusses the use of Apomorphine, the first dopaminergic drug used to treat Parkinson's disease symptoms. Recent studies have shown that intermittent subcutaneous injections of Apomorphine can produce benefits similar to levodopa and can revert off-periods in patients with complex on-off motor swings. Continuous subcutaneous infusions of Apomorphine can reduce daily off-time by more than 50% in these patients, a stronger effect than oral dopamine agonists or COMT inhibitors. Long-term studies have shown the persistence of Apomorphine's efficacy, and it has been associated with significant reductions in levodopa-induced dyskinesias. The main side effects are related to cutaneous tolerability, with sedation and psychiatric complications playing a lesser role. The paper suggests that subcutaneous Apomorphine treatment deserves more widespread clinical use.


UMLS:C0021499


UMLS:C0576773


NCBIGene:84084

The study discovered a new Rab6 homolog cDNA, Rab6c, which was found to be under-expressed in multidrug resistant (MDR) breast cancer and uterine sarcoma cell lines. When the MDR breast cancer cells were made to express Rab6c, they exhibited less resistance to several anti-cancer drugs, indicating that Rab6c is involved in drug resistance in these cells.


NCBIGene:84084


UMLS:C0596890


UMLS:C1960685

The study investigates the incidence and treatment of end-stage renal disease (ESRD) and chronic renal failure (CRF) in patients who underwent orthotopic liver transplantation (OLTX) and were treated with calcineurin inhibitors. The study found that 18.1% of patients developed severe renal dysfunction 13 years after OLTX. Patients with ESRD had a lower survival rate compared to the control group. The study also found that an increase in serum creatinine at various times postoperatively was a significant predictor of the development of CRF or ESRD.


UMLS:C5161227

Chronic renal failure (CRF) or End-stage renal disease (ESRD)


UMLS:C0837106


UMLS:C0498656


UniProtKB:A0A3S4C021

The study investigates the D90A-SOD1 mutation in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. The mutation has been found in both recessive and dominant forms, with the recessive form associated with a longer survival rate. The study suggests that all cases of D90A-SOD1 are descended from a single ancient founder, with the recessive form arising more recently. The researchers propose that a regulatory polymorphism close to D90A-SOD1 in the recessive founder decreases ALS susceptibility in heterozygotes and slows disease progression.


UMLS:C4286685


UniProtKB:A0A3S4C021


UMLS:C0796451


UMLS:C3534578

The study investigated the frequency of GJB2 gene variants in children from Kenya and Sudan with severe to profound non-syndromic deafness. The results showed a low frequency of deafness-associated GJB2 variants in these populations, with only 2.2% of Kenyan and 6.6% of Sudanese children being carriers. Ten novel variants were identified, most of which were unlikely to be causative for non-syndromic autosomal recessive deafness (NSARD). The findings suggest that other genetic or epigenetic factors may be responsible for deafness in these countries.


NCBIGene:2706


UMLS:C3508275


NCBIGene:100126270

The study investigated the FMR1 gene in 90 Japanese children with autism or mental retardation, using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. No mutations were found in 76 male patients. However, one female patient had a mutant allele with an A to C substitution at nucleotide 879 in exon 9. This mutation was not found in 50 controls. The mutation led to abnormal splicing and premature termination of protein synthesis. The study suggests that point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients, although this is uncommon.


UMLS:C1519159


UMLS:C0802005

Mutant allele with an A to C substitution at nucleotide 879 in exon 9


UMLS:C1508256


UMLS:C0030705

The study investigates the changes in resistance genotype and phenotype of cytomegalovirus (CMV) in a patient with non-Hodgkin's lymphoma who had failed successive anti-CMV treatments. Over a 2-year period, seven CMV isolates from the patient were analyzed. The patient was found to be infected by at least three CMV strains and variants of the parental strains. Resistance to antiviral drugs ganciclovir, cidofovir, and foscarnet was detected successively. Changes in resistance genotypes were found to be dependent on resistance selective pressure and were not linked to interstrain variation.


UMLS:C1579417


UMLS:C0287719


UMLS:C1852520


UMLS:C0162551


MONDO:0009623

The study found that 13% of Czech children with primary microcephaly, born within a 2.5-year period, were diagnosed with Nijmegen breakage syndrome (NBS). NBS is a rare chromosomal instability disorder characterized by early growth retardation, congenital microcephaly, immunodeficiency, borderline mental development, and a high tendency to lymphoreticular malignancies. The study also found that DNA testing of Czech primary microcephalic children can detect all expected NBS patients, significantly lowering the age of correct diagnosis from 7.1 years to under 1 year of age. This early diagnosis allows for appropriate preventive care, improving life expectancy and prognosis.


UMLS:C4331829


UMLS:C3516644


UMLS:C0596473


UMLS:C0030705

The paper discusses a unique case where a patient with myotonic dystrophy, a common form of adult muscular dystrophy, developed atrial fibrillation after undergoing one cycle of doxorubicin-based chemotherapy for diffuse B-cell gastric lymphoma. The authors suggest that the cardiac toxicity associated with the aggressive chemotherapy could have triggered the arrhythmia in the patient's predisposed heart muscle.


UMLS:C4302502


NCIT:C138163


UMLS:C0342459

The study investigated a male pseudohermaphrodite (MPH) patient of Chinese origin with normal testosterone production and normal androgen receptor gene coding sequences. The patient had ambiguous genitalia and underwent a gonadectomy. The analysis of the SRD5A2 gene revealed two consecutive mutations in exon 4, one being a T nucleotide deletion (frameshift mutation from codon 219) and the other a missense mutation at codon 227 (substitution of guanine by adenine). The patient was a compound heterozygote for SRD5A2 mutations. The patient's testes showed normal morphology for age, suggesting that the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development during early infancy.


NCBIGene:6716


UMLS:C3669122


UMLS:C1556094

The study identified nine mutations in the thiazide-sensitive Na-Cl co-transporter (NCCT) gene in seven Japanese patients with Gitelman's syndrome (GS), an autosomal recessive disorder. Five of these mutations have been previously reported in Japanese patients but not in GS patients from other ethnic groups. The remaining four mutations were novel. The study suggests that the distribution of mutations in the NCCT gene in Japanese GS patients potentially differs from that in other populations.


NCBIGene:6559

Thiazide-sensitive Na-Cl co-transporter (NCCT) gene


UMLS:C5212651


UMLS:C3161107


UMLS:C0152035

The study investigated the molecular defects in two Chinese pedigrees with inherited factor V (FV) deficiency. Three mutations in the F5 gene were identified in these individuals. In the first individual, a homozygous deletion was found that abolished the canonical splicing site and activated a cryptic acceptor site, introducing eight additional amino acids into the FV protein. In the second individual, two heterozygous mutations were discovered, one introducing a premature termination code and the other leading to a missense mutation.


UMLS:C5212326


UMLS:C0264994

The study investigates the risk of bladder cancer in patients with Wegener's granulomatosis, and its relation to the drug cyclophosphamide. The study found that the risk of bladder cancer doubled for every 10g increase in cyclophosphamide dosage. Treatment duration longer than 1 year was associated with an eightfold increased risk. The absolute risk for bladder cancer in the cohort reached 10% 16 years after diagnosis of Wegener's granulomatosis. The results suggest a dose-response relationship between cyclophosphamide and the risk of bladder cancer.


PUBCHEM.COMPOUND:2907


UMLS:C3258079


MONDO:0018923

The study investigates the DiGeorge and Velocardiofacial syndromes (DGS/VCFS), which are associated with deletions of the 22q11 chromosomal band. The research shows that the HIRA/Tuple1 gene, located on the non-deleted part of the 22q11.21 subband, presents a delayed replication timing in DGS/VCFS subjects. This alteration in replication timing and nuclear location may indicate an altered gene regulation and transcription in DGS/VCFS.


NCBIGene:446054


NCIT:C3676

Alteration in replication timing and nuclear location


PUBCHEM.COMPOUND:73456770

The study investigates the calcium dependence of the TRPV6 channel, a calcium-sensing channel. The research was conducted on TRPV6-expressing HEK cells. The study found that the TRPV6 channel is not constitutively active. The channel activity is highly regulated by intracellular and extracellular divalent cations. The study also found that monovalent cations permeated the TRPV6 channels under conditions where no calcium permeation was detectable, indicating that divalent cations block TRPV6 channels from the extracellular side.


UMLS:C0908152


NCBIGene:100033736


NCBIGene:55503


UMLS:C0030705

The paper discusses a severe case of Resistance to Thyroid Hormone Syndrome (RTH), a rare disorder usually inherited as an autosomal dominant trait. The patient in question was found to have a homo-/hemizygous mutation in the thyroid hormone receptor beta gene (TR-beta). This mutation, known as I280S, was present either on both alleles or in a hemizygous form with complete deletion of the second allele. The patient exhibited a severe phenotype with seriously impaired intellectual development, hyperkinetic behaviour, tachycardia, hearing and visual impairment, likely due to the dominant negative effect of the I280S mutant protein and the absence of any functional TR-beta.


UMLS:C1564139


UMLS:C1969925

The study investigates the impact of two single nucleotide polymorphisms in the endothelin-1 (ET-1) gene, Lys198Asn and -134delA, on blood pressure. The Lys198Asn polymorphism was previously found to be associated with blood pressure in overweight individuals. The study found no significant difference in ET-1 levels between individuals with and without the Lys198Asn polymorphism. However, a significant difference in ET-1 levels was found between individuals with the 3A/3A and 3A/4A genotypes. The study suggests that another variant in the EDN1 gene may be responsible for the association with blood pressure, or the interaction between the EDN1 Lys198Asn polymorphism and other factors such as obesity may be involved in the mechanisms elevating blood pressure.


NCBIGene:1906


UMLS:C1969925


PUBCHEM.COMPOUND:5288826

The study investigates the protective effect of Tincture of Crataegus (TCR), an alcoholic extract of hawthorn berries, on myocardial infarction induced in rats. The results show that pretreatment with TCR prevents the increase in lipid peroxidation and activity of marker enzymes observed in isoproterenol-induced rats. It also prevents the decrease in antioxidant enzymes in the heart and increases the rate of ADP-stimulated oxygen uptake and respiratory coupling ratio. TCR also protects against pathological changes induced by isoproterenol in rat heart.


PUBCHEM.COMPOUND:5288826


UMLS:C3533087

The study investigates the impact of three polymorphisms of the antioxidant enzyme paraoxonase 1 (PON1) on mortality. The study found no difference in genotype distribution of the polymorphisms in different age groups. However, it was found that individuals with the 192RR homozygotes have a poorer survival rate compared to QQ homozygotes. This effect was most pronounced in women. The study suggests that PON1 192RR homozygosity is associated with increased mortality in women in the second half of life, possibly related to coronary heart disease (CHD) severity and survival after CHD rather than susceptibility to development of CHD.


UMLS:C1840433


UMLS:C0545278


UMLS:C0545278

possibly related to severity and survival after


PUBCHEM.COMPOUND:119607

The study evaluated the risk of cardiovascular thrombotic events in patients with osteoarthritis and rheumatoid arthritis treated with valdecoxib, a new COX-2-specific inhibitor, compared to nonselective nonsteroidal antiinflammatory drugs (NSAIDs) and placebo. The results showed that the incidence of thrombotic events was similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. However, the thrombotic risk was consistently higher for users of aspirin than nonusers of aspirin.


UMLS:C5174877

Nonsteroidal antiinflammatory drugs (NSAIDs)


UMLS:C2945649


NCBIGene:313498

The study investigates the association of CD72 polymorphisms and FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in different populations. The researchers found that the CD72-*1 allele was significantly associated with nephritis among Japanese patients. They also discovered a novel alternatively spliced (AS) transcript that was expressed at the protein level. The ratio of AS/common isoforms was significantly increased in individuals with the *2/*2 genotype. The presence of CD72-*2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72.


UMLS:C1705430


NCBIGene:971


NCBIGene:54434

The study investigates the genetic basis of Disseminated Superficial Actinic Porokeratosis (DSAP), a rare keratinization disorder. Through genome-wide linkage analysis in three Chinese families, the researchers identified the gene SSH1 on chromosome 12 as a potential candidate. They found three different mutations in SSH1 in the affected families and one non-familial case. The study suggests that these mutations, which affect a phosphatase involved in actin dynamics, may lead to cytoskeleton disorganization in epidermal cells, contributing to the pathogenesis of DSAP.


UMLS:C4061689


UMLS:C0662367

The study focuses on the development of a vaccine candidate for the dengue virus type 2 (DEN-2), specifically the American genotype. A 30 nucleotide deletion was engineered into the DEN-2 isolate to create a full-length cDNA clone. This was used to produce recombinant DEN-2 and rDEN2Delta30. The rDEN2Delta30 virus showed reduced replication in SCID mice with human hepatoma cells. The rDEN-2 viruses were not infectious for Aedes mosquitoes but infected Toxorynchites mosquitoes. In rhesus monkeys, rDEN2Delta30 appeared to be slightly attenuated compared to the parent virus. A derivative of rDEN2Delta30, rDEN2Delta30-4995, was created by incorporating a point mutation identified in the NS3 gene of DEN-4 and was found to be more attenuated than rDEN2Delta30 in SCID mice. Both rDEN2Delta30 and rDEN2Delta30-4995 viruses are suggested for evaluation in humans and inclusion in a tetravalent dengue vaccine.


NCBIGene:13199005

SCID mice with human hepatoma cells (SCID-HuH-7 mice)


NCBIGene:13199005

rDEN2Delta30 and rDEN2Delta30-4995 viruses


UMLS:C3715091

The study investigates the influence of IL12B polymorphisms on the recovery from Hepatitis C virus infection. The study found no significant difference in the proportion of IL12B promoter and 3'-UTR genotypes among different cohorts. However, patients infected with HCV genotype 1 with high baseline viremia carrying the IL12B 3'-UTR 1188-C-allele showed significantly higher sustained virologic response rates due to reduced relapse rates. These patients appear to respond more efficiently to antiviral combination therapy. No association of IL12B polymorphisms and self-limited HCV infection was found.


NCIT:C157506


UMLS:C1704795


UMLS:C1400290

The study investigates a newborn with congenital long QT syndrome (LQTS) that manifested as fetal bradycardia, 2:1 atrioventricular block, and ventricular tachycardia. The conditions improved after treatment with lidocaine and mexiletine. A novel LQTS-3 mutation was identified in the Na(v)1.5 cardiac sodium channel, which was not present in the parents or sibling. This mutation and possible neighboring mutants contribute to a persistent inward current due to altered inactivation kinetics, leading to congenital LQTS with perinatal onset of arrhythmias.


NCIT:C167282


PUBCHEM.COMPOUND:3676


PUBCHEM.COMPOUND:4178


UMLS:C0034785

The study investigates the haplotype structure of the beta-adrenergic receptor genes (ADRB1, ADRB2, and ADRB3) in US Caucasians and African Americans. These genes are involved in various physiological functions and have been associated with cardiovascular and metabolic disorders. The study identified a single block with little evidence of historical recombination in both populations for each gene. The study suggests that haplotype maps and marker panels can be useful tools for linkage studies on beta-AR function.


NCBIGene:153


UMLS:C0018591


UMLS:C0043157


UMLS:C3178913


UMLS:C0751608

The study used the SEREX technique to identify breast cancer-associated antigens. From the screening of cDNA expression libraries derived from 3 breast cancer patients, 88 positive clones were identified, including 27 previously unknown sequences. Two of these unknown antigens showed tissue restricted mRNA expression. Bcg-72 is expressed only in breast, prostate and thymus, while bcg-84 is expressed at moderate levels in testis, spleen and breast. Seven out of the 88 clones showed reactivity to at least one serum from either 75 breast or 75 colon cancer patients, but not with sera from healthy individuals.


UMLS:C0307852


UMLS:C4228996

Sera from breast or colon cancer patients


NCIT:C93032

The study investigates the relationship between polymorphisms in the prostate specific antigen (PSA) and the androgen receptor (AR) gene and the risk of prostate cancer (PC). The research found a significantly higher PSA/GG distribution in PC patients, especially in younger men, compared to benign prostatic hyperplasia (BPH) patients or population controls. Furthermore, the study found that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease.


UMLS:C0666267


NCIT:C13441


NCBIGene:38175


UMLS:C0920381

The paper reports a case of a 14-year-old girl who experienced recurrent acute interstitial nephritis, a kidney condition, induced by the antibiotic azithromycin. The second episode was more severe than the first and despite treatment with intensive corticosteroid therapy, her kidney function remained impaired. The paper suggests that while most cases of antibiotic-induced acute interstitial nephritis are benign and self-limited, some patients may risk permanent kidney damage.


UMLS:C2215112


UMLS:C4054701


PUBCHEM.COMPOUND:447043


UMLS:C4545501

The study investigates the genetic basis of Bernard-Soulier syndrome (BSS), a rare inherited bleeding disorder, in a child patient. The patient was found to have two mutations in the GPIX gene, a novel nine-nucleotide deletion and the Asn45Ser missense mutation. The patient's mother was heterozygous for the Asn45Ser mutation, and the father for the nine-nucleotide deletion. The researchers suggest that the combined effects of these two mutations are responsible for the BSS phenotype in the patient.


NCBIGene:2815


UMLS:C5203302


UMLS:C0015671


UMLS:C1544419


MONDO:0002571

The study examined ten primary central nervous system lymphomas (PCNSL) for abnormalities and inactivation of the p14 gene. The researchers found that the p14 gene was homozygously deleted in four cases, hemizygously deleted in five cases, and not deleted in one case. They also detected a missense mutation (L50R) in one case with a hemizygous deletion. The study found frequent p14 gene abnormalities (90%) and inactivation (40-60%) in PCNSL, which is in contrast to the same pathological subtype of systemic lymphoma where p14 gene abnormalities and inactivation were infrequent.


NCBIGene:115482693


MONDO:0002571


UMLS:C5412079

do not significantly modify risk in BRCA1 mutation carriers

The study investigates the impact of two common variants of the BRCA2 gene, N372H and 203G > A, on the risk of breast and ovarian cancer in women carrying a BRCA1 mutation. The study included 778 women from 403 families. The results showed no significant modification of breast cancer risk by either polymorphism. For ovarian cancer risk, no effect was observed with the N372H variant, but a borderline association was found with the 203A allele of the 5'-untranslated region. The study concludes that if these single-nucleotide polymorphisms do modify the risk of cancer in BRCA1 mutation carriers, their effects are not significantly larger than that of N372H previously observed in the general population.


UMLS:C0600680

has a borderline association with risk in BRCA1 mutation carriers


PUBCHEM.COMPOUND:5288826

Activation of N-methyl-d-aspartate (NMDA) receptors

The study investigates the relationship between spinal motor neuron degeneration and the activation of N-methyl-d-aspartate (NMDA) receptors following neuraxial morphine administration after a noninjurious interval of aortic occlusion in rats. The results show that intrathecal morphine increases cerebrospinal fluid (CSF) glutamate concentration, which is involved in NMDA receptor activation, and induces spastic paraparesis. The study suggests that opioids may be neurotoxic in the context of spinal cord ischemia via NMDA receptor activation.


UMLS:C3871399

Cerebrospinal fluid (CSF) glutamate concentration


UMLS:C3871399


UMLS:C0242402


PUBCHEM.COMPOUND:2157

The paper discusses two cases of patients with recent-onset atrial fibrillation who experienced severe low back pain shortly after the initiation of intravenous amiodarone, an antiarrhythmic drug. This side effect has not been previously reported in medical literature. The paper suggests that clinicians should be aware of this potential reaction, as stopping the administration of the drug leads to complete resolution of the pain.


PUBCHEM.COMPOUND:2157


UMLS:C4319812

The paper discusses the harmful effects of ultraviolet (UV) B radiation, particularly skin cancer, and the process of its development. It highlights the role of genetic alterations, signal transduction pathways, and the conversion of pre-malignant and malignant lesions into invasive tumors. The paper also discusses the potential of photochemoprevention, particularly the use of botanical antioxidants found in common diets and beverages, as a strategy to reduce skin cancer occurrence. The authors suggest that using skin care products with chemopreventive agents, along with sunscreens and educational efforts, could effectively reduce UV-induced skin damage and skin cancer.


UMLS:C5555057


UMLS:C0150773


UMLS:C1556094

The study investigates the genetic background of hemochromatosis in Japanese patients, given the low prevalence of the C282Y mutation of the HFE gene in Japan. The study included nine patients clinically diagnosed with hemochromatosis. The HFE and transferrin receptor 2 (TfR2) genes were analyzed. No mutations were found in the HFE gene, but two novel mutations, L490R and V561X, were found in the TfR2 gene in two patients. A known variation, I238M, was also found in the patient with L490R. The study concludes that TfR2 plays a role in the pathogenesis of hemochromatosis in Japan.


UMLS:C0806378


NCBIGene:7036


NCBIGene:4221

The study investigates the presence of alterations in the MEN1 gene in patients who underwent surgery for sporadic primary hyperparathyroidism (pHPT). The MEN1 gene mutations were found in 17.1% of patients with benign parathyroid lesions, but not in those with carcinomas. Four new MEN1 gene mutations were identified. However, no correlation was found between the genotype and phenotype, suggesting other genetic or epigenetic factors may be involved in the full expression of the disease.


UMLS:C5239401


NCBIGene:4221


EFO:0000513


UMLS:C3532504

The study investigates the role of a common deletion polymorphism in the Dihydrofolate reductase (DHFR) gene, which is crucial for converting folic acid to a form usable by the cell, in preterm delivery and low birth weight. The study found that women with this deletion allele had a significantly higher risk of preterm delivery. Furthermore, women with both the deletion allele and low folate intake had a significantly higher risk of preterm delivery and having an infant with low birth weight. This suggests a gene-environment interaction.


UMLS:C5230731

Women with both a DHFR deletion allele and low folate intake


UMLS:C5230731


NCBIGene:403715

Steroid 5alpha-reductase type 2 (SRD5A2)

The study investigates mutations of the steroid 5alpha-reductase type 2 (SRD5A2) gene in 20 patients from 18 Brazilian families suspected of having steroid 5alpha-reductase type 2 deficiency. The study found 11 subjects with SRD5A2 homozygous single-base mutations, four with compound heterozygotes, and three with heterozygous substitutions. Four patients had previously undescribed SRD5A2 gene mutations. The study also found a prevalence of G183S substitution among a subset of African-Brazilian patients and evidence of recurrence of known mutations.


UMLS:C0238815

Steroid 5alpha-reductase type 2 (SRD5A2)


UMLS:C0238815


UMLS:C0702111

Summary not provided or could not be parsed.


UMLS:C0024923


UMLS:C0030653


UMLS:C0009337


UMLS:C2607943


UMLS:C0920381

The paper describes a case where a 42-year-old man developed acute hypertension, severe headache, and vomiting after taking the first doses of amisulpride and tiapride. The symptoms were alleviated after the drugs were discontinued and the patient was treated with nicardipine and verapamil. An adrenal mass was discovered through an abdominal ultrasound, which was later confirmed to be pheochromocytoma through a postoperative histologic examination. The paper suggests a possible link between the hypertensive crisis and the use of amisulpride and tiapride, marking the first reported case of such an event.


UMLS:C0920381


HP:0034880


PUBCHEM.COMPOUND:5467


NCBIGene:1636

The study investigates the influence of angiotensin I-converting enzyme (ACE) gene polymorphism on gastric cancer progression. The ACE genotypes were found to correlate with the number of lymph node metastases and the Unio Internationale Contra Cancrum (UICC) tumor stage. Patients with the II genotype had significantly fewer lymph node metastases and a lower UICC tumor stage than patients with the DD genotype. ACE was expressed locally in gastric cancer and the gene polymorphism influenced metastatic behavior.


UMLS:C0017431


NCBITaxon:2563676


NCBIGene:1636


UMLS:C0001795

The study investigates the incidence of major hemorrhage and stroke in patients aged 76 and older with atrial fibrillation who have been on adjusted-dose warfarin. The study found that the rate of major hemorrhage was high, but excluding fatalities, resulted in no long-term sequelae. The stroke rate on warfarin was low, demonstrating the effectiveness of warfarin treatment.


NCIT:C54767

People aged over 75 with atrial fibrillation


NCIT:C54767


PUBCHEM.COMPOUND:54678486


UMLS:C2733343

Polymorphisms in exon 11 of the DBP gene

The study investigates the association of polymorphism in codon 416 of the Vitamin D-binding protein (DBP) gene with autoimmune markers of type 1 diabetes. The study found that the frequencies of the Asp/Glu and Glu/Glu were significantly increased in diabetic subjects with detectable IA-2 antibodies. However, the DBP Glu-containing genotype did not show differences in the prevalence of GAD65 antibodies. This suggests a role of the vitamin D endocrine system in the autoimmune process of type 1 diabetes.


PUBCHEM.COMPOUND:16207689


NCBIGene:4155904

not accompanied by differences in the prevalence of


UBERON:0000949


UMLS:C4725095

The study investigates the safety of Celecoxib (CE), a novel drug, in patients with a history of adverse skin reactions to Acetaminophen (paracetamol--P) and Nimesulide (N), with or without reactions to classic non-steroidal anti-inflammatory drugs (NSAIDs). The study involved 9 patients, and the results showed that 8 out of 9 patients (88.8%) tolerated CE, with only one patient developing a moderate angioedema of the lips. The study concludes that CE is a reasonably safe alternative for patients who do not tolerate P and N.


UMLS:C3469348


UMLS:C4725095

Acetaminophen (paracetamol--P) and Nimesulide (N)


PUBCHEM.COMPOUND:5314

The paper discusses a case where severe masseter muscle rigidity, also known as "jaw of steel", occurred after the administration of succinylcholine during general anesthesia for the removal of a tracheal foreign body through bronchoscopy. Despite this, anesthesia was continued with propofol infusion, with all necessary facilities available to detect and treat malignant hyperthermia, a potential complication of masseter muscle rigidity.


UMLS:C0240302


UMLS:C0002915


UMLS:C0002912


PUBCHEM.COMPOUND:71384

The study investigates the effects of dexrazoxane on the myelosuppression caused by DNA cleavage-enhancing drugs etoposide, daunorubicin, and doxorubicin. Dexrazoxane was found to reduce myelosuppression and weight loss from daunorubicin and etoposide in mice, but not from doxorubicin. The study suggests that dexrazoxane could potentially allow for higher doses of etoposide to be used in treatment without increasing hematologic toxicity.


PUBCHEM.COMPOUND:71384