Results 1 to 10 of about 7,069 (164)

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

Genetic and Structural Variations in Czech Patients With Congenital Myopathies. [PDF]

Clin Genet
ABSTRACT Congenital myopathies (CMs) are a heterogeneous group of genetic muscle disorders characterized by hypotonia and muscle weakness, with pathogenic variants identified in at least 41 genes and inheritance patterns including autosomal dominant (AD), recessive (AR), and X‐linked (XL).
Zídková J, Lauerová B, Mensová L, Kramářová T, Kopčilová J, Réblová K, Soukup Vodičková M, Hujňáková M, Haberlová J, Rohlenová M, Mazanec R, Šoukalová J, Gaillyová R, Vyhnálková E, Balaščaková M, Danhofer P, Juříková L, Grečmalová D, Gřegořová A, Plevová P, Langová M, Honzík T, Magner M, Klincová M, Solařová P, Šenkeříková M, Fajkusová L.   +26 more
europepmc   +2 more sources

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era [PDF]

Acta Neuropathologica Communications
Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options.
Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse, Angéline Madelaine, Anaïs Chanut, Maud Beuvin, Favienne Borsato-Levy, Valérie Biancalana, Giulia Barcia, Pascale De Lonlay, Jocelyn Laporte, Johann Böhm, Norma Beatriz Romero   +15 more
doaj   +2 more sources

Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature [PDF]

Diagnostics
Background and Clinical Significance: FLNC encodes filamin C, a muscle-scaffolding protein crucial for cardiac integrity. Pathogenic FLNC variants cause diverse cardiomyopathies (hypertrophic, dilated, restrictive, and arrhythmogenic) and myofibrillar ...
Zhiqiang Zhang, Dandan Wang, Cong Fang, Linan Xu, Shujing He, Zi Ren, Lei Jia, Xiaoyan Liang   +7 more
doaj   +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

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

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

Centronuclear myopathy in labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide [PDF]

, 2011
Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families ...
Christophe Hitte, G. Diane Shelton, Geneviève Aubin-Houzelstein, Inès Barthélémy, Jacques Penderis, Jean-Jacques Panthier, Jean-Laurent Thibaud, Jérôme Mary, Laurent Guillaud, Laurent Tiret, Manuel Pelé, Marie Maurer, Marilyn Fender, Natasha Olby, Reiner Albert Veitia, Stéphane Blot, Thomas Bilzer   +16 more
core   +10 more sources