Results 1 to 10 of about 3,999 (130)

ACTA1 gene regulation in livestock: A multidimensional review on muscle development, meat quality, and genetic applications [PDF]

Veterinary World
Background and Aim: The skeletal muscle α-actin gene (ACTA1) plays a pivotal role in muscle contraction, structural integrity, and overall develop­ment of skeletal muscle tissue in livestock.
Siti Rani Ayuti, Sangsu Shin, Eun Joong Kim, Mirni Lamid, Sunaryo Hadi Warsito, Mohammad Anam Al Arif, Widya Paramita Lokapirnasari, Zulfi Nur Amrina Rosyada, Aswin Rafif Khairullah, Muslim Akmal, Mudhita Zikkrullah Ritonga, Rimayanti Rimayanti, Mira Delima   +12 more
doaj   +2 more sources

A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies. [PDF]

Brain Pathol
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Pauper M, Kölbel H, Karakesisoglou I, Schänzer A, Böhm J, Thompson R, Kohlschmidt N, Ringel B, Bonne G, Neuhoff K, Gangfuß A, Kilicarslan OA, Agullo SB, Hentschel A, Schara-Schmidt U, Lochmüller H, Polavarapu K, Roos A.   +17 more
europepmc   +2 more sources

Current Topics of Progressive Cardiac Conduction Disease [PDF]

J Arrhythm
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Sumitomo N, Mori H, Kumamoto T, Ishikawa T, Seki A, Makita N, Schott J, Wilde A.   +7 more
europepmc   +2 more sources

Integrative Advances in Equine Genomics From Reference Assemblies to Evolutionary History and Key Traits. [PDF]

Evol Appl
ABSTRACT Horses are major domestic animals and cultural symbols that have accompanied humans for millennia. They underpin transport, agriculture, warfare and sport, and also provide a model for studying domestication, complex traits and adaptive evolution.
Lu Y, Ma R, Wang B, Wu J, Chong Y, Gao Z, Deng W.   +6 more
europepmc   +2 more sources

Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]

Annals of Child Neurology, 2022
Purpose X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired ...
Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae   +10 more
doaj   +1 more source

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

Frontiers in Genetics, 2023
Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments.
Cristina Skrypnyk, Cristina Skrypnyk, Aseel Ahmed Husain, Hisham Y. Hassan, Jameel Ahmed, Abdulla Darwish, Latifa Almusalam, Noureddine Ben Khalaf, Fahad Al Qashar   +8 more
doaj   +1 more source

Identification of new dystroglycan complexes in skeletal muscle. [PDF]

PLoS ONE, 2013
The dystroglycan complex contains the transmembrane protein β-dystroglycan and its interacting extracellular mucin-like protein α-dystroglycan. In skeletal muscle fibers, the dystroglycan complex plays an important structural role by linking the ...
Eric K Johnson, Bin Li, Jung Hae Yoon, Kevin M Flanigan, Paul T Martin, James Ervasti, Federica Montanaro   +6 more
doaj   +1 more source

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

eLife, 2023
Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases, including myopathies and muscular atrophy.
Arian Mansur, Remi Joseph, Euri S Kim, Pierre M Jean-Beltran, Namrata D Udeshi, Cadence Pearce, Hanjie Jiang, Reina Iwase, Miroslav P Milev, Hashem A Almousa, Elyshia McNamara, Jeffrey Widrick, Claudio Perez, Gianina Ravenscroft, Michael Sacher, Philip A Cole, Steven A Carr, Vandana A Gupta   +17 more
doaj   +1 more source

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Biomolecules, 2021
Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement.
Anwar Baban, Valentina Lodato, Giovanni Parlapiano, Corrado di Mambro, Rachele Adorisio, Enrico Silvio Bertini, Carlo Dionisi-Vici, Fabrizio Drago, Diego Martinelli   +8 more
doaj   +1 more source

Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report

Italian Journal of Pediatrics, 2019
Background Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the
Itaru Hayakawa, Yuichi Abe, Hiroshi Ono, Masaya Kubota   +3 more
doaj   +1 more source