Rare Deletion in Porcine Prion Protein Gene Identified in Berkshire Pig
Researchers analyzing 170 pigs across five breeds identified three novel PRNP variants, including a rare 24-base-pair in-frame deletion in a ...
Tag: Genetic Variants
Study Expands SETD5 Disorder Spectrum to Multisystem Anomalies
A retrospective study in BMC Medical Genomics characterizes SETD5-related disorders in six children, revealing an expanded multisystem spectrum including congenital ...
Algerian Parkinson’s Study Identifies Rare Variants in Six Candidate Genes
An exploratory study of 19 Algerian patients with Parkinson’s disease identified rare variants in six candidate genes, highlighting the genetic ...
Study Identifies Rare Genetic Variants in Early Psychosis Intervention Patients
An observational study in Calgary found that a small subset of patients in an early psychosis intervention program carried clinically ...
Gene Variants Tied to Vitamin D Reshape Gut Microbes in Postmenopausal Women
Variants in vitamin D metabolism genes VDR and NADSYN1 are associated with lower gut microbial diversity and altered bacterial abundance ...
Computational Screen Flags 37 High-Risk Variants in the Thyroid Gene FOXE1
A computational analysis of more than 1,000 FOXE1 variants identified 37 high-risk candidates, most predicted to reduce protein stability, with ...
Factors associated with the use of UK emergency services in children and young people with intellectual developmental disabilities
A linked NHS records study of 800 English children with genetically confirmed intellectual developmental disabilities found emergency attendance was driven ...
Machine learning finds Non-APOE gene signals too weak to predict Alzheimer’s
A Korean two-stage sequencing study found that Non-APOE candidate variants added almost no predictive power once leakage and APOE effects ...
Genes May Not Predict COPD Inhaler Response, Systematic Review Finds
A systematic review of eight studies finds that genetic variants show inconsistent and largely unreplicated associations with how COPD patients ...
GJB2 variants found in 7% of African non-syndromic hearing loss cases in pooled review
A systematic review and meta-analysis of 17 African studies estimates GJB2 pathogenic variants in 7% of non-syndromic hearing loss cases, ...
R202Q dominates MEFV variant spectrum in Eastern Black Sea suspected FMF cohort
A retrospective study of 611 individuals tested for suspected familial Mediterranean fever in Türkiye's Eastern Black Sea region found R202Q ...
Russia Pins Down Duchenne Muscular Dystrophy Rate at 20 per 100,000 Male Births
A national selective screening program across three Russian federal centers estimates Duchenne/Becker muscular dystrophy birth prevalence at 20.3 per 100,000 ...
Adult-Onset Familial HLH Shows Distinct Genetics and Poorer Survival in China
A nationwide Chinese cohort of 223 genetically confirmed patients found that adult-onset familial hemophagocytic lymphohistiocytosis shows enriched non-truncating variants and ...
Vitamin D Binding Protein Variants Don’t Change Supplement Response in Older Adults
A randomized trial in older adults found that vitamin D binding protein GC2 carriers had lower baseline total 25-hydroxyvitamin D3 ...
ERAP1 Haplotypes Linked to Poorer Survival in Cervical Cancer Patients
A study of TCGA and Brazilian cervical cancer cohorts found that two ERAP1 haplotypes were associated with significantly worse survival ...
Massive Genetic Map Pinpoints 1,757 Heart Rhythm Variants Linked to Sudden Death
An international team led by Vanderbilt Health researchers has created a functional map of 1,757 genetic variants that can trigger ...
WDR4 Gene Variant Linked to Prostate Cancer Risk in Genetic Study
A genetic variant in the RNA-modifying gene WDR4 has been associated with prostate cancer susceptibility in a two-stage genetic association ...
UGT1A1 variants associated with unexplained neonatal jaundice in northern China
A multicenter case-control study in northern China found a significant association between UGT1A1 variants, particularly c.211G>A, and unexplained neonatal hyperbilirubinemia, ...
Pathogenic ABCC8 variants mostly preserve gliclazide binding, simulations show
Computational simulations found that pathogenic ABCC8 variants generally preserved gliclazide binding, while producing variant-specific changes in structural stability and predicted ...
How Seven Tiny Mutations Break a Metabolic Enzyme and Cause a Rare Brain and Heart Syndrome
New crystal structures and biochemical analyses reveal that seven disease-causing SHMT2 mutations sabotage the same mitochondrial enzyme through strikingly different ...
POPULAR NEWS
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