Meta‐GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility
Advanced Science, EarlyView.This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Qing Lin +26 more
wiley +1 more source
Respiratory Research, 2009 Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity
Wheeler Lisa A +10 more
doaj +1 more source
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients [PDF]
, 1992 Orna Levran, Desnick Rj, EH Schuchman
openalex +1 more source
Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype [PDF]
, 2020 Jiaoli Sun +9 more
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Advanced Science, EarlyView.This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li +22 more
wiley +1 more source
Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells [PDF]
, 2006 Atsuko Kasahara +11 more
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Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report [PDF]
, 2021 Ming‐Fang He +4 more
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EVALUATING THE THERAPEUTIC EFFICACY OF RESTORING WILD-TYPE P53 ACTIVITY IN P53-MUTANT TUMORS [PDF]
, 2017 The p53 transcription factor is the most frequently altered in human cancers usually via missense mutations that undermine its transcriptional activity. Clinically, TP53 mutations have been shown to be remarkably predictive of refractoriness to treatment,
Larsson, Connie A
core +1 more source
Genome‐Wide Association Analyses Reveal the Genetic Basis of EMS Mutagenesis Efficiency in Rice
Advanced Science, EarlyView.Based on large‐scale screening of 420 rice accessions, GWAS identified the Rc locus as a key regulator of EMS mutagenesis efficiency. Functional Rc alleles enhance both seed survival and genome‐wide mutation frequency by boosting antioxidant enzyme activities (CAT, SOD, POD) and reducing oxidative damage.
Peizhou Xu +9 more
wiley +1 more source