Results 261 to 270 of about 232,253 (352)

Hypoxia and the cytoskeleton

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Schematic outlining the activation of hypoxia‐sensitive pathways, the influence of hypoxia and associated pathways on the cytoskeleton, and the impact of these on disease progression. Abstract A highly‐regulated and dynamic cytoskeleton is vital for functional cellular physiology and the maintenance of homeostasis.
Darragh Flood, Cormac T. Taylor
wiley   +1 more source

G12 mutations rewire allosteric communication at the Ras-RalGDS interface. [PDF]

open access: yesBiophys J
Demirbas E   +5 more
europepmc   +1 more source

Low molecular weight GTP-binding proteins in human neutrophil granule membranes.

open access: hybrid, 1991
Mark R. Philips   +5 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 947-951, April 2026.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome

open access: yesJournal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 2, April 2026.
ABSTRACT Background Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function. While cardiac manifestations of BTHS are well characterized in male patients, the mechanisms underlying skeletal muscle weakness and fatigability are poorly
Catalina Matias   +7 more
wiley   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

open access: yesMedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi   +5 more
wiley   +1 more source

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