Results 141 to 150 of about 140,486 (305)

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

open access: yesArthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng   +6 more
wiley   +1 more source

Integrative single cell RNA‐sequencing and spatial transcriptomics uncovers distinct macrophage‐fibroblast cross‐talk in human hip synovium between patients with femoroacetabular impingement and osteoarthritis

open access: yesArthritis &Rheumatology, Accepted Article.
Objectives Femoroacetabular impingement (FAI) and synovitis have been recognized as essential factors for developing osteoarthritis (OA) in the hip joints. However, little is known about altered synovial cellular compositions, their associated transcriptomic profiles, and cell‐cell interactions in FAI and hip OA.
Gulzada Kulzhanova   +9 more
wiley   +1 more source

Synergistic defecation effects of Bifidobacterium animalis subsp. lactis BL-99 and fructooligosaccharide by modulating gut microbiota

open access: yesFrontiers in Immunology
IntroductionSynbiotics have revealed the possibility of improving constipation through gut microbiota. The synergistic efficacy of Bifidobacterium animalis subsp.
Qi Zhang   +19 more
doaj   +1 more source

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

open access: yesArthritis &Rheumatology, EarlyView.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong   +9 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

Clock genes regulate Ca2+ signaling and mitochondrial bioenergetics to inhibit Sjogren's disease

open access: yesArthritis &Rheumatology, Accepted Article.
Objective Although Ca2+ signaling and metabolism have been identified as key determinants for the development of Sjogren's disease (SjD), the intricate connection between them and salivary gland physiology remains poorly understood. Methods Fluorescence‐based Ca2+ imaging, RNA seq, and mitochondrial activity were used to investigate the effects of ...
Viktor R. Drel   +12 more
wiley   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

open access: yesAutism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

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