Results 31 to 40 of about 2,557 (149)

Splicing of human chloride channel 1

Biochemistry and Biophysics Reports, 2016
Expression of chloride channel 1 (CLCN1/ClC-1) in skeletal muscle is driven by alternative splicing, a process regulated in part by RNA-binding protein families MBNL and CELF.
Takumi Nakamura, Natsumi Ohsawa-Yoshida, Yimeng Zhao, Michinori Koebis, Kosuke Oana, Hiroaki Mitsuhashi, Shoichi Ishiura   +6 more
doaj   +1 more source

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations

Biomedicines, 2023
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and ...
Oscar Brenes, Michael Pusch, Fernando Morales   +2 more
doaj   +1 more source

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

Frontiers in Pediatrics, 2021
Background:CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of
Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Xihua Li   +4 more
doaj   +1 more source

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

Frontiers in Neurology, 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).
Serena Pagliarani, Giovanni Meola, Giovanni Meola, Melania Filareti, Giacomo Pietro Comi, Sabrina Lucchiari   +5 more
doaj   +1 more source

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

Based on previous reports the frequency of co-segregating recessive chloride channel (CLCN1) mutations in families with myotonic dystrophy type 2 (DM2) was suspected to be increased.
Raheem O, Auvinen S, Schoser B, Kress W, Lochmuller H, Suominen T, Krahe R, Udd B, Walter M   +8 more
core   +5 more sources

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia

, 2021
Introduction: Myotonic disorders are a group of diseases affecting the muscle, in different ways. Myotonic dystrophy type 1 (DM1) is related to (CTG)n expansion in the 3-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene and is ...
Cardani R., Brunori P., Comi G. P., Meola G., Locci S., Federico A., Lucchiari S., De Stefano N., Mignarri A.   +8 more
core   +2 more sources

A 3-mRNA-based prognostic signature of survival in oral squamous cell carcinoma [PDF]

PeerJ, 2019
Background Oral squamous cell carcinoma (OSCC) is the most common type of head and neck squamous cell carcinoma with an unsatisfactory prognosis. The aim of this study was to identify potential prognostic mRNA biomarkers of OSCC based on analysis of The ...
Ruoyan Cao, Qiqi Wu, Qiulan Li, Mianfeng Yao, Hongbo Zhou   +4 more
doaj   +2 more sources

Novel CLCN1 mutations and clinical features of korean patients with myotonia congenita. [PDF]

, 2009
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1).
최영철
core   +1 more source

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

Molecular Genetics & Genomic Medicine, 2021
Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel one.
Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin   +7 more
doaj   +1 more source

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

Frontiers in Neurology, 2022
IntroductionNon-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.MethodsWe reviewed ...
Quanquan Wang, Quanquan Wang, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jing Hu   +6 more
doaj   +1 more source