Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]
, 2015 published_or_final_versio
Chen, WT +12 more
core +1 more source
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
core +7 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
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis [PDF]
, 2022 Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Comi, Giacomo Pietro +4 more
core +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
Restricting calcium currents is required for correct fiber type specification in skeletal muscle [PDF]
, 2018 K
Benedetti, Ariane +11 more
core +1 more source
Frontiers in Neurology, 2020 Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1.
Chiara Orsini +8 more
doaj +1 more source
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
Characterization and identification of hidden rare variants in the human genome [PDF]
, 2015 BackgroundBy examining the genotype calls generated by the 1000 Genomes Project we discovered that the human reference genome GRCh37 contains almost 20,000 loci in which the reference allele has never been observed in healthy individuals and around 70 ...
Abbate, Rosanna +10 more
core +3 more sources
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