Results 171 to 180 of about 72,863 (253)

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations. [PDF]

open access: yesEur J Hum Genet
Chaussenot A   +6 more
europepmc   +1 more source

Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies

open access: yesAnimal Research and One Health, EarlyView.
Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu   +6 more
wiley   +1 more source

Loss of Heterozygosity and Mutations in the RAS-ERK Pathway Genes in Tumor Cells of Various Loci in Multiple Myeloma. [PDF]

open access: yesInt J Mol Sci
Soloveva M   +10 more
europepmc   +1 more source

Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis

open access: yesAnimal Research and One Health, EarlyView.
Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li   +10 more
wiley   +1 more source

Association of Clonal Hematopoiesis With Incident, Late‐Onset, Seropositive Rheumatoid Arthritis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Clonal hematopoiesis (CH), defined by acquired driver mutations in hematopoietic stem cells, is associated with many inflammatory diseases of aging. We investigated whether CH and its subtypes, CH of indeterminate potential (CHIP) and mosaic chromosomal alteration (mCA), are associated with incident rheumatoid arthritis (RA) and whether ...
Kun Zhao   +8 more
wiley   +1 more source

Detecting HLA loss of heterozygosity within a standard diagnostic sequencing workflow for prognostic and therapeutic opportunities. [PDF]

open access: yesNPJ Precis Oncol
Lozac'hmeur A   +15 more
europepmc   +1 more source

ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen   +21 more
wiley   +1 more source

Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors. [PDF]

open access: yesActa Neuropathol
Lin AL   +24 more
europepmc   +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez   +295 more
wiley   +1 more source

Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer. [PDF]

open access: yesMol Cytogenet
Lautert-Dutra W   +8 more
europepmc   +1 more source

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