Results 71 to 80 of about 113,813 (285)
Annals of Hepatology, 2019 Wilson's disease (WD), resulting from homozygote and compound heterozygote mutations in ATB7B, is an autosomal recessive disease. WD associated acute liver failure (ALF) is fatal, and a revised Wilson's disease prognostic index (RWPI) >11 is a reliable ...
Longgen Liu +5 more
doaj +1 more source
Under-dominance constrains the evolution of negative autoregulation in diploids [PDF]
, 2012 Regulatory networks have evolved to allow gene expression to rapidly track changes in the environment as well as to buffer perturbations and maintain cellular homeostasis in the absence of change.
Pomiankowski, Andrew +3 more
core +4 more sources
Annals of Neurology, EarlyView.Objective Sleep‐predominant network hyperexcitability is increasingly recognized as a potential disease‐accelerating comorbidity in Alzheimer's disease (AD). However, its prevalence and risk‐factors remain debated, largely due to cohort‐specific and methodological differences across studies.
Anna B. Szabo +14 more
wiley +1 more source
Discovery of the Principal Cystic Fibrosis Mutation (F508del) in Ancient DNA from Iron Age Europeans [PDF]
, 2007 The most common, life-threatening autosomal recessive disease of Europeans and Euro-Americans, cystic fibrosis (CF), occurs predominately in patients with the F508del mutation.1 Although F508del is currently detectable as a single allele in 1/30-1/40 ...
Cedric Le Marechal +4 more
core +1 more source
Annals of Neurology, EarlyView.Objective Immunothrombosis contributes to ischemic stroke pathophysiology through neutrophil extracellular trap (NET) formation, which promotes thrombus stabilization and microvascular dysfunction. DNase1 is the principal endonuclease responsible for NET degradation.
B. Díaz‐Benito +10 more
wiley +1 more source
Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak
Animal Research and One Health, EarlyView.Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan +15 more
wiley +1 more source
BMC Medical Genetics, 2003 Background Doherty and Zinkernagel, who discovered that antigen presentation is restricted by the major histocompatibility complex (MHC, called HLA in humans), hypothesized that individuals heterozygous at particular MHC loci might be more resistant to ...
Bergstrom Carl T +2 more
doaj +1 more source
Arthritis &Rheumatology, Accepted Article.Objectives Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biological mechanism underlying this association. Methods Expression of surrounding genes was compared between rs26232 genotypes.
Kevin J. Sheridan +12 more
wiley +1 more source
Improving sequence-based genotype calls with linkage disequilibrium and pedigree information
, 2012 Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases.
Whittemore, Alice S., Zhou, Baiyu
core +1 more source
A genetic assessment of parentage in the blackspot sergeant damselfish, Abudefduf sordidus (Pisces: Pomacentridae) [PDF]
, 2019 Microsatellite markers were used to investigate the reproductive behavior of the damselfish Abudefduf sordidus at Johnston Atoll, Central Pacific Ocean.
Barber, Paul H. +3 more
core +1 more source