Results 61 to 70 of about 2,738 (205)

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype [PDF]

European Journal of Human Genetics, 2004
Mutations in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC). The recessive form, Becker's myotonia, is believed to be caused by two loss-of-function mutations, whereas the dominant form, Thomsen's myotonia, is assumed to be a consequence of a dominant-negative effect. However,
Dunø, Morten, Colding-Jørgensen, Eskild, Grunnet, Morten, Jespersen, Thomas, Vissing, John, Schwartz, Marianne   +5 more
openaire   +3 more sources

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +2 more sources

Implication of intracellular chloride channel in extracellular matrix remodeling in pressure‐overloaded mice and patients with dilated cardiomyopathy

Physiological Reports, Volume 14, Issue 1, January 2026.
Abstract Chloride intracellular channels (CLICs) are important in cardiac cellular physiology. We aimed to determine the pathophysiological roles of CLICs in the heart. For this, we analyzed CLIC expression in cardiomyocytes in a mouse transverse aortic constriction (TAC) model to induce cardiac hypertrophy and failure, as well as in ventricular ...
Gaku Oguri, Seitaro Nomura, Takafumi Nakajima, Hironobu Kikuchi, Syotaro Obi, Issei Komuro, Norihiko Takeda, Shigeru Toyoda, Toshiaki Nakajima   +8 more
wiley   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Anesthesia Experience in a Patient with Myotonia Congenita

Bagcilar Medical Bulletin, 2019
Myotonia congenita (MC) was first described as a skeletal muscle disorder by Thomsen in 1876. As a result of the mutation of the chloride channel gene (CLCN1), which is on the 17th chromosome, patients suffer from muscle contractility and fatigue ...
Yeşim Cokay Abut, Serkan Şimşek, Seher Köse, Şenay Kırgezen, Kübra Bolat, Veysel Erden   +5 more
doaj   +1 more source

Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder characterized by CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase coding gene. The presence of expanded CTG repeats in DMPK mRNAs leads to the sequestration of RNA‐binding factors such as the Muscleblind‐like (MBNL)
Caroline Hermitte, Hortense de Calbiac, Gilles Moulay, Antoine Mérien, Jeanne Lainé, Hélène Polvèche, Michel Cailleret, Stéphane Vassilopoulos, Edor Kabashi, Denis Furling, Cécile Martinat, Morgan Gazzola   +11 more
wiley   +1 more source

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations [PDF]

, 2015
BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma.
Alan D. Irvine, Albert David, Alice Goldenberg, Antoine Hamel, Armelle Magot, Arnold Munnich, AW Arnold, Bongani M. Mayosi, Brigitte Chabrol, Bruno Eymard, C Grau Salvat, Caroline Kannengiesser, Chantal Bou-Hanna, Christel Thauvin, Christian Laboisse, Christina Ulane, Cécile Méni, Cédric Le Caignec, Dominique Figarella-Branger, Dominique Israël-Biet, Emmanuelle Fleurence, Emmanuelle Salort-Campana, Eve Puzenat, Flora Bréhéret, Florence Caillon, Frances Smith, Genome of the Netherlands C, Grainne M. O’Regan, H Penagos, Irwin McLean, J Lessem, J Os van, J Piard, J Piard, Jacinda B. Sampson, Jean-Marie Mussini, Jean-Yves Mahé, Jeanine Igual, Jeffrey Odel, Julie Perrier, Juliette Piard, Kurenai Tanji, L Larizza, Laurence Faivre, M Meier, MA Simpson, Maeve A. McAleer, Mythily Ganapathi, Nadem Soufir, Nathalie Bodak, Nonhlanhla P. Khumalo, NP Khumalo, PE Weary, Perrine Brunelle, Peter L. Nagy, R McDaniell, Romain Gherardi, Rosemarie M. Watson, S Akamatsu, S Mercier, S Unger, Sandra Mercier, Stuart MacGowan, Stéphane Bézieau, Stéphanie Mallet, Sébastien Barbarot, Sébastien Küry, T Kindler, Thomas Besnard, U Otsu, Uchenna Agbim, Valérie Cormier-Daire, Yann Péréon   +72 more
core   +5 more sources

Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients

Molecular Genetics and Metabolism Reports, 2020
Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presentation
Ioannis Zaganas, Vasilios Mastorodemos, Martha Spilioti, Lambros Mathioudakis, Helen Latsoudis, Kleita Michaelidou, Dimitra Kotzamani, Konstantinos Notas, Konstantinos Dimitrakopoulos, Irene Skoula, Stefanos Ioannidis, Eirini Klothaki, Sophia Erimaki, Georgios Stavropoulos, Vassilios Vassilikos, Georgios Amoiridis, Georgios Efthimiadis, Athanasios Evangeliou, Panayiotis Mitsias   +18 more
doaj   +1 more source

Caloric Restriction Reprograms Adipose Tissues in Rhesus Monkeys

Aging Cell, Volume 24, Issue 12, December 2025.
Here we show shared and depot‐specific adaptations to life‐long CR in subcutaneous and visceral adipose depots from advanced‐age male rhesus monkeys. Transcriptomics reveal differences between the depots, as well as shared and distinct CR‐responsive pathways.
Josef P. Clark, Timothy W. Rhoads, Sean J. McIlwain, Michael A. Polewski, Derek M. Pavelec, Ricki J. Colman, Rozalyn M. Anderson   +6 more
wiley   +1 more source