Results 61 to 70 of about 3,195 (191)
A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs [PDF]
Scientific Reports, 2019 AbstractMutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present study was to characterize the clinical and molecular findings of Hereditary Myotonia in an inbred pedigree. The clinical,
C. E. T. Araújo +8 more
openaire +3 more sources
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]
, 2004 CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
Anis, Miliea +7 more
core +6 more sources
Advancing Precision Nutrition Through Multimodal Data and Artificial Intelligence
Advanced Science, EarlyView.Individual responses to food vary dramatically, challenging traditional dietary advice. This review explores how the unique genetic makeup, gut microbiome, and brain activity shape host metabolic health. We examine how artificial intelligence integrates these multimodal data to predict individualized dietary needs, moving beyond one‐size‐fits‐all ...
Yuanqing Fu +5 more
wiley +1 more source
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
BMC Medical Genetics, 2020 Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction.
Peter Sparber +6 more
doaj +1 more source
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 +3 more
wiley +1 more source
BMC Neurology, 2018 Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to ...
Jing Miao +5 more
doaj +1 more source
Restricting calcium currents is required for correct fiber type specification in skeletal muscle [PDF]
, 2018 K
Benedetti, Ariane +11 more
core +1 more source
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients [PDF]
, 2020 Introduction. Non-dystrophic myotonias (NDM) are heterogeneous diseases caused by mutations in CLCN1 and SCN4A. The study aimed to describe the clinical and genetic spectrum of NDM in a large German cohort. Methods.
Gläser, Dieter +3 more
core +1 more source
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 +8 more
wiley +1 more source
CLC channel function and dysfunction in health and disease [PDF]
, 2014 CLC channels and transporters are expressed in most tissues and fulfill diverse functions. There are four human CLC channels, ClC-1, ClC-2, ClC-Ka and ClC-Kb, and five CLC transporters, ClC-3 through -7.
Christoph Fahlke +2 more
core +2 more sources