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 ...
Tag: Genetic variants
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 ...
Personality’s genetic links extend across health, careers and relationships
A 46-cohort study links more than 1,200 genetic variants associated with personality to health, education, careers, longevity and other life ...
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 ...
New Genetic Tool Separates Real Causal Effects from Statistical Noise in Disease Studies
Researchers have developed MRZ, a new Mendelian randomization method that robustly classifies genetic instruments to deliver accurate causal estimates, validated ...
Hidden Genetic Burden: Three Rare Diseases Shape Child Health in Nunavut
A genomic study of nearly 3,000 Nunavut newborns reveals that three autosomal recessive conditions, including congenital sucrase-isomaltase deficiency at one ...
Three NHS Genetics Labs Fail to Share Variant Data Vital for Rare Disease Diagnosis
A BMJ investigation finds that three of England's seven NHS genetics laboratories are failing to routinely submit genetic variants to ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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