Results 81 to 90 of about 3,195 (191)
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
Frontiers in Neurology, 2020 Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
doaj +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
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1 [PDF]
Nucleic Acids Research, 2009 The expression and function of the skeletal muscle chloride channel CLCN1/ClC-1 is regulated by alternative splicing. Inclusion of the CLCN1 exon 7A is aberrantly elevated in myotonic dystrophy (DM), a genetic disorder caused by the expansion of a CTG or CCTG repeat.
Kino, Yoshihiro +7 more
openaire +2 more sources
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
Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]
, 2015 Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu +8 more
core
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 +2 more
core +2 more sources
Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants
Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 602-614, March 2025.Abstract Objective While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII‐related disorders have previously been documented. Methods We present detailed clinical, immunocytochemical, and imaging data on eight additional patients from seven families with biallelic ...
Riley M. McCarty +28 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 +72 more
core +5 more sources
New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target
BioEssays, Volume 47, Issue 3, March 2025.Cellular senescence accumulates in the skeletal muscle of patients with myotonic dystrophy Type 1, leading to the production of senescence‐associated secretory phenotype (SASP) factors that have detrimental effects. Targeting these senescent cells with senotherapeutics could restore muscle homeostasis and slow disease progression.
Cécilia Légaré +3 more
wiley +1 more source