Results 81 to 90 of about 159,600 (311)

DNase1 RS1053874 Polymorphism is Associated with Early Neurological Recovery through NET Modulation and with Long‐Term Survival in Ischemic Stroke: A Prospective Cohort Study

open access: yesAnnals 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

open access: yesAnimal 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

The Influence of Drosophila Spire and Myosin V During Mid‐Oogenesis Is Independent of Their Direct Interaction

open access: yesCytoskeleton, EarlyView.
ABSTRACT Cooperativity between cytoskeletal proteins is crucial for spatiotemporal coordination in biological processes, like oogenesis. In mammalian and Drosophila oogenesis, proper assembly and function of actin networks require coordination between actin assembly factors Spire and formins, as well as actin‐associated proteins like myosins and Rab ...
Joseph Y. Ong   +7 more
wiley   +1 more source

Plasma transfusion combined with chelating therapy alleviates fulminant Wilson's disease with a single Arg778Leu heterozygote mutation

open access: yesAnnals 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

Improving Genotype Imputation in High‐Dimensional Pharmacogenomics Using Multiple Imputation: Evaluation with Machine Learning Approaches

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Multiple imputation is well‐established for handling missing data, yet its use in high‐dimensional genetic datasets remains limited. Using pharmacokinetic tuberculosis simulations and SNP data (1000 Genomes Project), we compared machine learning (ML) and traditional approaches (e.g., mean imputation and complete‐case analysis) for imputation and ...
Innocent G. Asiimwe   +6 more
wiley   +1 more source

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) are key enzymes that catabolize thiopurines. Decreased or no‐function alleles in TPMT and NUDT15 are associated with reduced or no enzyme activity and predictive of pronounced adverse effects, including severe myelosuppression, that may occur among individuals treated with standard ...
Maud Maillard   +18 more
wiley   +1 more source

Invited review: Bioinformatic methods to discover the likely causal variant of a new autosomal recessive genetic condition using genome-wide data [PDF]

open access: yes, 2018
In animals, new autosomal recessive genetic diseases (ARGD) arise all the time due to the regular, random mutations that occur during meiosis. In order to reduce the effect of any damaging new variant, it is necessary to find its cause.
Pollott, G E
core   +2 more sources

The segregation of Calb1, Calb2, and Prph neurons reveals distinct and mixed neuronal populations and projections to hair cells in the inner ear and central nuclei

open access: yesDevelopmental Dynamics, EarlyView.
Three populations of hair cells have a distinct expression of Calb1 and Calb2. (A, A′D) The central is highly positive for Calb1 while surrounding HC are positive for Calb2. Later, a calyx forms primarily with Calb1. (B, B′, D′, D″) Saccule and utricle start out positive for Calb2 but will upregulate the Calb1 in the striola that is primarily forming ...
Jeong Han Lee   +6 more
wiley   +1 more source

Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures

open access: yesBMC 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

Apc mutation induces resistance of colonic cells to lipoperoxide-triggered apoptosis induced by faecal water from haem-fed rats [PDF]

open access: yes, 2006
Recent epidemiological studies suggest that high meat intake is associated with promotion of colon cancer linked to haem-iron intake. We previously reported that dietary haem, in the form of either haemoglobin or meat, promotes precancerous lesions in ...
Guéraud, Françoise   +5 more
core   +1 more source

Home - About - Disclaimer - Privacy