Results 121 to 130 of about 219,663 (291)

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

Development of KASP molecular markers and fingerprinting based on reduced representation genome sequencing of garlic

open access: yesFrontiers in Plant Science
In this study, a garlic DNA fingerprinting system based on single nucleotide polymorphisms (SNPs) was developed using representative cultivated garlic accessions.
Qingqing Yang   +11 more
doaj   +1 more source

Multimodal Integration of Protein Interactomes With Genomic and Molecular Data Discovers Distinct Rheumatoid Arthritis Endotypes

open access: yesArthritis &Rheumatology, EarlyView.
Objective Rheumatoid arthritis (RA) is a heterogeneous autoimmune disease characterized by clinical and molecular heterogeneity, notably in the presence of anti–cyclic citrullinated peptide (CCP) antibodies. Patients with CCP+ RA exhibit more severe disease progression and distinct treatment responses compared to patients with CCP− RA.
Javad Rahimikollu   +10 more
wiley   +1 more source

Inosine‐Triphosphate‐Pyrophosphatase Activity as a Potential Predictor of Methotrexate Remission in Juvenile Idiopathic Arthritis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Methotrexate (MTX) is the first‐line therapy for juvenile idiopathic arthritis (JIA), but up to 40% of patients do not respond to it. Low inosine triphosphate pyrophosphatase (ITPA) activity has been associated with reduced clinical remission. We investigated the role and underlying mechanisms of ITPA in vitro. Methods ITPA enzymatic activity
Sofia Sindici Forgiarini   +19 more
wiley   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

open access: yesArthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen   +23 more
wiley   +1 more source

PROBAND: SNP genotyping and ApoE genotyping v1

open access: yes, 2021
A protocol for genotyping and assigning ApoE status in the Tracking Parkinson's (PROBAND) study
openaire   +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

Effect of developmental changes on pharmacokinetics of drugs used in the treatment of infant acute lymphoblastic leukaemia—A comprehensive review

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis   +5 more
wiley   +1 more source

Pharmacogenetic CYP2B6 variants affect steroid hormone metabolism in human breast cancer cells

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Common genetic CYP2B6 variants correlate with adverse breast cancer outcome. The oestrogen metabolites estriol and 16‐epiestriol, which are formed downstream of CYP2B6‐catalysed 16α/β‐hydroxytestosterone, may be linked to elevated breast cancer risk and might increase due to the demonstrated CYP2B6 variants‐related metabolic shifts.
Marco Hoffmann   +5 more
wiley   +1 more source

Risk of venous thromboembolism after SARS‐CoV‐2 vaccination—Evidence from genome‐wide association study and population‐based observational study

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aim We aimed to investigate whether genetic variation is associated with venous thromboembolism after immunization with SARS‐CoV‐2 vaccines. Methods We conducted a genome‐wide association study (GWAS) on cases of venous thromboembolism within 42 days after SARS‐CoV‐2 vaccination, recruited from reports of adverse drug reactions sent to the Swedish ...
Sofia Attelind   +7 more
wiley   +1 more source

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