Results 191 to 200 of about 178,478 (306)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

Stem cell–based therapies for type 1 diabetes: Progress in differentiation, clinical translation, and immune protection

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Directed differentiation of pluripotent stem cells into functional pancreatic β cells have emerged as a promising strategy for the radical treatment of type 1 diabetes, with preclinical and early clinical evidence demonstrating reversal of hyperglycemia and insulin independence.
Zifan Li, Yu Kang, Yuyu Niu
wiley   +1 more source

Trans-differentiation of Jdp2-depleted Gaba-receptor-positive cerebellar granule cells to Purkinje cells. [PDF]

open access: yesCell Death Discov
Ku CC   +12 more
europepmc   +1 more source

ApoE‐ and Cfh‐deficient mice exhibit structural and molecular features of human early–intermediate retinal degeneration

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Age‐related macular degeneration (AMD) involves lipid dysregulation and complement overactivation. Here, we characterize a double‐knockout ApoE−/−/Cfh−/− mouse as a model of early–intermediate retinal degeneration. These mice exhibit retinal pigment epithelium thinning, Bruch's membrane thickening, lipid accumulation, enhanced C5b‐9 deposition ...
Sergio Recalde   +9 more
wiley   +1 more source

Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy. [PDF]

open access: yesNeurobiol Dis
Yu W   +6 more
europepmc   +1 more source

Nuclear factor of activated T cells as a driver of tumor progression and a target for precision therapy

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Overview illustration of dysregulated NFAT activation coordinating upstream signaling, post‐translational regulation and cancer promoting pathways to induce abnormal gene expression that drives tumor development, progression and immune escape. Abstract The Nuclear Factor of Activated T Cells (NFAT) family comprises closely related transcription factors.
Hira Khan   +6 more
wiley   +1 more source

Gut–Brain Axis Modulation by Short‐Chain Fatty Acids Exerts Disease‐Modifying Effects in a Murine Model of Drug‐Resistant Epilepsy

open access: yesAnnals of Neurology, EarlyView.
Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera   +16 more
wiley   +1 more source

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