Results 101 to 110 of about 39,204 (167)

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

open access: yesAnnals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate   +34 more
wiley   +1 more source

The mechanism of labor in nonhuman primates: A look inside

open access: yesThe Anatomical Record, EarlyView.
Abstract While in humans, the flexed position of the fetus and its rotating course down the birth canal are well documented, in other primates the mechanism of labor is unknown. Despite the lack of comparative data, it is commonly assumed that the human obstetric mechanism is unique, and anthropologists have disputed when and why the transition to the ...
Melissa K. Stoller
wiley   +1 more source

Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Erika R. Vucko   +6 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

Integration of Nutrition and Organic Agriculture Framework in Managing Gastrointestinal Nematodes in Ruminants

open access: yesAnimal Research and One Health, EarlyView.
Gastrointestinal nematode infections damage the gastrointestinal epithelial tissues of ruminants, affecting nutrient utilization and overall production performance. This review outlines host‐gastrointestinal nematode interactions and discusses integrated control strategies, including nutritional supplementation, grazing management, vaccines, and ...
Wenxun Chen   +5 more
wiley   +1 more source

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐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

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

open access: yesArthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz   +13 more
wiley   +1 more source

Efficacy and Safety of Nanoencapsulated Sirolimus Plus Pegadricase: Results From the Randomized, Placebo‐Controlled Phase 3 Trials

open access: yesArthritis &Rheumatology, EarlyView.
Objective DISSOLVE I and II examined the efficacy and safety of nanoencapsulated sirolimus (NAS) plus pegadricase (NASP) in patients with uncontrolled gout (UG). Methods In these double‐blind, placebo‐controlled Phase 3 trials of NASP, patients were randomized 1:1:1 to infusions of high‐dose (HD) or low‐dose (LD) NAS plus pegadricase (HD NASP, LD NASP,
Herbert S. B. Baraf   +15 more
wiley   +1 more source

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