Results 191 to 200 of about 369,753 (339)

Cell type diversification and phenotype convergence underlying white fin-ornamentation of cyprinid fishes. [PDF]

open access: yesProc Natl Acad Sci U S A
Huang D   +10 more
europepmc   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama   +6 more
wiley   +1 more source

Oncogenic KRAS Rewires Stress Granule Dynamics: Mechanisms and Therapeutic Opportunities

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Stress granules (SGs) are dynamic, membrane‐less structures that form in response to various cellular stresses, including metabolic, oxidative, and therapeutic challenges. They function as adaptive hubs and reorganize protein synthesis and signaling networks to help cells survive under stress. In cancer, these condensates are often hijacked to
Msimisi Ndzinisa   +2 more
wiley   +1 more source

β‐Aminoisobutyric Acid Alleviates Cisplatin‐Induced Muscle Atrophy by Regulating E3 Ubiquitin Ligases, Apoptosis, Amino Acid Metabolism, Autophagy, and Ferroptosis

open access: yesMedicine Bulletin, EarlyView.
ABSTRACT Background Cisplatin (CIS) is a widely used broad‐spectrum anticancer agent, but its clinical application is often limited by severe adverse effects, including skeletal muscle atrophy, which compromises patients' quality of life and treatment efficacy.
Hao‐Zhe Wang   +10 more
wiley   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer   +6 more
wiley   +1 more source

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