Human mutation

BACKGROUND: Endometriosis (EM) is a chronic, estrogen-dependent disease that lacks reliable noninvasive diagnostic biomarkers. This study was aimed at evaluating the diagnostic value of PAX8 using integrated transcriptomic and machine learn…

Primary infertility affects 15% of couples worldwide, yet many genetic causes remain unknown. Through whole-exome sequencing of a woman with primary infertility and repeated embryo implantation failure, we identified a novel homozygous fram…

BACKGROUND: Endometriosis (EMs) affects approximately 10% of reproductive-age women worldwide, yet its pathogenesis remains incompletely understood. Abnormal cell differentiation and somatic mutations in the ectopic endometrial microenviron…

Background: The apoptosis affected the prostate adenocarcinoma (PRAD); we aimed to explore the potential pathogenesis of high-risk patients based on the apoptosis features. Method: The RNA-seq data of patients and apoptosis genes were used …

Angiogenesis is a host-mediated mechanism in disease pathophysiology. The vascular endothelial growth factor (VEGF) pathway is a major determinant of angiogenesis, and a comprehensive annotation of the functional variation in this pathway i…

We investigated the biochemical properties and cellular expression of the c.346C>T (p.R116C) human cationic trypsinogen (PRSS1) mutant, which we identified in a German family with autosomal dominant hereditary pancreatitis. This mutation le…