Results 261 to 270 of about 54,763 (333)

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, EarlyView.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. [PDF]

Sci Rep
Ozisik O, Gorokhova S, Cerino M, Bartoli M, Baudot A.   +4 more
europepmc   +2 more sources

Interpretation of elevated baseline concentrations and serial changes of high-sensitivity cardiac troponin T in confirmed muscular dystrophies. [PDF]

ESC Heart Fail
Yildirim M, Reich C, Salbach C, Pribe-Wolferts R, Milles BR, Täger T, Mueller-Hennessen M, Weiler M, Meder B, Frey N, Giannitsis E.   +10 more
europepmc   +1 more source

Muscle-on-a-chip devices: a new era for in vitro modelling of muscular dystrophies.

Dis Model Mech, 2023
Fernández-Costa JM, Tejedera-Vilafranca A, Fernández-Garibay X, Ramón-Azcón J.   +3 more
europepmc   +1 more source

Psychiatric‐onset neuronal intranuclear inclusion disease in a psychiatry‐based dementia‐enriched cohort in Japan

Psychiatry and Clinical Neurosciences, EarlyView.
Aim A GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is a genetic cause of Neuronal Intranuclear Inclusion Disease (NIID) that exhibits cognitive, motor, and autonomic dysfunction. Our objective is to determine whether there are undiagnosed NIID cases in a psychiatry‐based dementia‐enriched cohort and to identify their clinical ...
Tesshin Miyamoto, Kohji Mori, Shoshin Akamine, Shizuko Kondo, Shiho Gotoh, Ryota Uozumi, Sumiyo Umeda, Hanako Koguchi‐Yoshioka, Satoshi Nojima, Daiki Taomoto, Yuto Satake, Takashi Suehiro, Hideki Kanemoto, Kenji Yoshiyama, Takashi Morihara, Manabu Ikeda   +15 more
wiley   +1 more source

The Efficacy of Sulphur Amino Acids and Related Compounds for Protection Against the Development of Muscular Dystrophy in the Chick

, 1962
K.J. Jenkins, D.C. Hill, Lilian M. Hutcheson, H.D. Branion   +3 more
openalex   +1 more source

Bibliometric Analysis of the 50 Most Cited Publications in Epidermolysis Bullosa

Pediatric Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by extreme skin fragility, leading to recurrent blistering and significant impacts on patients' quality of life. A bibliometric analysis of the 50 most‐cited EB articles from the past six decades reveals that the majority of research focuses on understanding EB ...
Evelyn F. Fagan, Jennifer M. Fernandez, Joseph T. McGrath, Erin X. Wei, Mollie Oudenhoven   +4 more
wiley   +1 more source

Correction to: Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies. [PDF]

J Muscle Res Cell Motil
Rajasingham T, Rodriguez HM, Betz A, Sproule DM, Sinha U.   +4 more
europepmc   +1 more source

Enzymological Study of Progressive Muscular Dystrophy

, 1966
Hideo Sugita
openalex   +2 more sources

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

Pediatric Dermatology, EarlyView.
ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho, Richard M. Haber, Janan Mohamad, Ofer Sarig, Eli Sprecher, Renée Perrier, Dana Boctor, Michele Ramien   +7 more
wiley   +1 more source