Genetic background of Lewis negative blood group phenotype and its association with atherosclerotic disease in the NHLBI Family Heart Study [PDF]
Veikko Salomaa+10 more
openalex +1 more source
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu+12 more
wiley +1 more source
A Phenome-Wide Mendelian Randomization and Colocalization Study Reveals Genetic Association Between PBC and Other Autoimmune Disorders. [PDF]
Shi S, Liu M, Gao H, Liu F, Song Y.
europepmc +1 more source
The IL9R region contribution in asthma is supported by genetic association in an isolated population [PDF]
Paula Kauppi+5 more
openalex +1 more source
This nationwide study evaluated KRAS and NRAS mutations in 10 754 Turkish patients with metastatic colorectal cancer. The results revealed a mutation frequency of 51.1%, with 46.6% having KRAS mutations, 4.5% having NRAS mutations, and 48.5% being wild‐type for both.
Gozde Kavgaci+6 more
wiley +1 more source
Adapting PRISMA Guidelines to Enhance Reporting Quality in Genetic Association Studies: A Framework Proposal. [PDF]
Nezameslami R+11 more
europepmc +1 more source
Association between the Endogenous Retrovirus HRES-1 and Multiple Sclerosis in the United Kingdom – Evidence of Genetically Different Disease Subsets? [PDF]
Henrik Berg Rasmussen+3 more
openalex +1 more source
Landscape of BRAF transcript variants in human cancer
We investigate the annotation of BRAF variants, focusing on protein‐coding BRAF‐220 (formerly BRAF‐reference) and BRAF‐204 (BRAF‐X1). The IsoWorm pipeline allows us to quantify these variants in human cancer, starting from RNA‐sequencing data. BRAF‐204 is more abundant than BRAF‐220 and impacts patient survival.
Maurizio S. Podda+5 more
wiley +1 more source
Association between genetic variation of the insulin receptor gene and essential hypertension in the Korean population [PDF]
Byung Yong Kang+6 more
openalex +1 more source
Loss of proton‐sensing GPR4 reduces tumor progression in mouse models of colon cancer
G protein‐coupled receptor 4 (GPR4) is a pH‐sensing receptor activated by acidic pH. GPR4 expression is increased in patients with inflammatory bowel disease who are at high risk of developing colorectal cancer. In mouse models, loss of GPR4 attenuated tumor progression. This correlated with increased IL2 and natural killer cell activity.
Leonie Perren+16 more
wiley +1 more source