Results 241 to 250 of about 258,084 (317)

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

open access: yesCytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen   +3 more
wiley   +1 more source

NR3C1 is required for normal somatotrope differentiation and Foxo1 expression in pituitary.

open access: yesEndocrinology
Das P   +11 more
europepmc   +1 more source

Genetic Determinants of Treatment‐Related Bone Toxicity in Pediatric Acute Lymphoblastic Leukemia

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Osteonecrosis and fractures are serious corticosteroid‐induced bone toxicities in children treated for acute lymphoblastic leukemia, yet their genetic determinants remain incompletely defined. In this study, we aimed to identify novel genetic contributors to bone toxicity and to evaluate the robustness of both newly identified and previously ...
Rachid Abaji   +14 more
wiley   +1 more source

Familial glucocorticoid deficiency due to a novel <i>TXNRD2</i> variant: expanding the spectrum of a rare genetic cause. [PDF]

open access: yesFront Endocrinol (Lausanne)
Al Alwan I   +11 more
europepmc   +1 more source

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