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Results 81 to 90 of about 75,225 (256)

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

Arthritis &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

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

Arthritis &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

A 3K Axiom SNP array from a transcriptome-wide SNP resource sheds new light on the genetic diversity and structure of the iconic subtropical conifer tree Araucaria angustifolia (Bert.) Kuntze.

PLoS ONE, 2020
High-throughput SNP genotyping has become a precondition to move to higher precision and wider genome coverage genetic analysis of natural and breeding populations of non-model species.
Pedro Italo T Silva +5 more
doaj +1 more source

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

British 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

Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds

BMC Genomics, 2017
Background To date, genome-scale analyses in the domestic horse have been limited by suboptimal single nucleotide polymorphism (SNP) density and uneven genomic coverage of the current SNP genotyping arrays.
Robert J. Schaefer +34 more
doaj +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman +18 more
wiley +1 more source

Adaptive Genomic Divergence Across Altitudes in Capsella bursa‐pastoris

Biological Diversity, EarlyView.
Genomic divergence was observed between high‐altitude and low‐altitude populations of Capsella bursa‐pastoris in China, consistent with an important role of ecological factors. Candidate adaptive loci associated with enhanced energy metabolism, photoprotection, and growth plasticity under altitudinal stress were identified.
Lu Liu +4 more
wiley +1 more source

Predicting cervical cancer DNA methylation from genetic data using multivariate CMMP

Canadian Journal of Statistics, EarlyView.
Abstract Epigenetic modifications link the environment to gene expression and play a crucial role in tumour development. DNA methylation, in particular, is gaining attention in cancer research, including cervical cancer, the focus of this study.
Hang Zhang +5 more
wiley +1 more source

Uncovering Coenzyme Q10‐Related Genetic Determinants of Statin‐Associated Muscle Symptoms: Evidence from the UK Biobank and the All of Us Research Program

Clinical Pharmacology &Therapeutics, EarlyView.
Statin‐associated muscle symptoms (SAMS) are frequent adverse effects of statin therapy and have been hypothesized to result from impaired coenzyme Q10 (CoQ10) biosynthesis. Although genetic determinants of CoQ10 levels have been reported, genome‐wide association studies (GWASs) conducted specifically in statin users are lacking. Moreover, direct CoQ10
Da Hoon Lee +6 more
wiley +1 more source

Benchmark of Open‐Access Star‐Allele Callers to Accurately Assess Haplotypes and Phenotypes in Pharmacogenetic Studies

Clinical Pharmacology &Therapeutics, EarlyView.
Genetic polymorphisms are common in pharmacogenes, with sometimes important implications for drug metabolism. Assessing the correct enzyme phenotype from genetic data is thus a crucial step into the development of personalized medicine. Many bioinformatics star‐allele callers have been developed for this purpose of identifying the correct star alleles ...
Marc B. Gros‐La‐Faige, Emmanuelle Génin, Anthony F. Herzig +2 more
wiley +1 more source

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