Results 161 to 170 of about 209,653 (293)

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

open access: yesAnnals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano   +20 more
wiley   +1 more source

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

open access: yesAnimal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang   +10 more
wiley   +1 more source

Identity rather than 3D position informs splicing of rare introns in the human genome. [PDF]

open access: yesiScience
Springer SM   +5 more
europepmc   +1 more source

Distinct Effects of Complement C4A and C4B Copy Numbers in Systemic Sclerosis Serological and Clinical Subtypes

open access: yesArthritis &Rheumatology, EarlyView.
Objective Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. The variable copy number (CN) of C4 genes and retroviral human endogenous retrovirus K (HERV‐K) element influence its function.
Javier Martínez‐López   +156 more
wiley   +1 more source

Dysregulation of U12‐Type Splicing in Lupus Neutrophils

open access: yesArthritis &Rheumatology, EarlyView.
Objective Neutrophil dysfunction is a hallmark of systemic lupus erythematosus (SLE), but its molecular basis remains unclear. This study explores transcriptional and posttranscriptional changes in low‐density granulocytes (LDGs), a proinflammatory neutrophil subset expanded in SLE, focusing on NADPH oxidase (Nox) function and minor intron splicing ...
Luz P. Blanco   +11 more
wiley   +1 more source

Tissue Damage in Rheumatoid Arthritis is Genetically linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts

open access: yesArthritis &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

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