Results 201 to 210 of about 54,763 (333)

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Clinical Genetics, EarlyView.
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Magdaléna Soukup Vodičková, Martina Hujňáková, Jana Haberlová, Marie Rohlenová, Radim Mazanec, Jana Šoukalová, Renata Gaillyová, Emílie Vyhnálková, Miroslava Balaščaková, Pavlína Danhofer, Lenka Juříková, Dagmar Grečmalová, Andrea Gřegořová, Pavlína Plevová, Martina Langová, Tomáš Honzík, Martin Magner, Martina Klincová, Pavla Solařová, Mária Šenkeříková, Lenka Fajkusová   +26 more
wiley   +1 more source

Delivery of genetic medicines for muscular dystrophies. [PDF]

Cell Rep Med
Chulanova Y, Breier D, Peer D.
europepmc   +1 more source

The Role of P2X7 Purinoceptors in the Pathogenesis and Treatment of Muscular Dystrophies. [PDF]

Int J Mol Sci, 2023
Zabłocki K, Górecki DC.
europepmc   +1 more source

HISTOCHEMICAL STUDIES ON HUMAN MUSCULAR DYSTROPHY [PDF]

, 1961
M. Nelly Golarz, Geoffrey H. Bourne, Hollie Richardson   +2 more
openalex   +1 more source

Elucidating the Role and Mechanism of Alpha‐Enolase in Senescent Amelioration via Metabolic Reprogramming

Cell Proliferation, EarlyView.
KB2764 interacted with alpha‐enolase (ENO1) and pyruvate kinase M (PKM), ultimately leading to PKM phosphorylation of ENO1. KB2764 consequently increased mitochondrial ATP production and decreased glycolysis dependence. Furthermore, the action of KB2764 extends its application to extend the lifespan of Caenorhabditis elegans.
Yun Haeng Lee, Hyunwoong Lim, Gyungmin Kim, Geonhee Jang, Myeong Uk Kuk, Ji Ho Park, Jee hee Yoon, Yoo Jin Lee, Duyeol Kim, Byeonghyeon So, Minseon Kim, Hyung Wook Kwon, Youngjoo Byun, Joon Tae Park   +13 more
wiley   +1 more source

Universal Proteomic Signature After Exercise-Induced Muscle Injury in Muscular Dystrophies. [PDF]

Ann Clin Transl Neurol
Stemmerik MG, Barthel B, Andersen NR, Skriver SV, Russell AJ, Vissing J.   +5 more
europepmc   +1 more source

Detection of carriers of benign X-linked muscular dystrophy. [PDF]

, 1967
Alan E H Emery, E R Clack, S Simon, Jacqueline Taylor   +3 more
openalex   +1 more source

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

Cell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang, Yue‐Yue Wang, Ri Wen, Tie‐Ning Zhang, Ni Yang   +4 more
wiley   +1 more source

Role of Perinatal Stem Cell Secretome as Potential Therapy for Muscular Dystrophies. [PDF]

Biomedicines
Pacilio S, Lombardi S, Costa R, Paris F, Petrocelli G, Marrazzo P, Cenacchi G, Alviano F.   +7 more
europepmc   +1 more source

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies. [PDF]

Front Mol Biosci, 2023
Esapa CT, McIlhinney RAJ, Waite AJ, Benson MA, Mirzayan J, Piko H, Herczegfalvi Á, Horvath R, Karcagi V, Walter MC, Lochmüller H, Rizkallah PJ, Lu QL, Blake DJ.   +13 more
europepmc   +1 more source