Results 31 to 40 of about 3,216 (202)

Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β. [PDF]

, 2016
Mutations in human CLC-1 chloride channel are associated with the skeletal muscle disorder myotonia congenita. The disease-causing mutant A531V manifests enhanced proteasomal degradation of CLC-1.
Chen, Shu-Ching, Chen, Tsung-Yu, Hsieh, Hsin-Ying, Huang, Jing-Jia, Peng, Yi-Jheng, Tang, Chih-Yung, Wu, Chia-Ying, Wu, Hao-Han   +7 more
core   +1 more source

Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Verdu-Diaz J, Bolano-Díaz C, Gonzalez-Chamorro A, Fitzsimmons S, Warman-Chardon J, Kocak GS, Mucida-Alvim D, Smith IC, Vissing J, Poulsen NS, Luo S, Domínguez-González C, Bermejo-Guerrero L, Gomez-Andres D, Sotoca J, Pichiecchio A, Nicolosi S, Monforte M, Brogna C, Mercuri E, Bevilacqua JA, Díaz-Jara J, Pizarro-Galleguillos B, Krkoska P, Alonso-Pérez J, Olivé M, Niks EH, Kan HE, Lilleker J, Roberts M, Buchignani B, Shin J, Esselin F, Le Bars E, Childs AM, Malfatti E, Sarkozy A, Perry L, Sudhakar S, Zanoteli E, Di Pace FT, Matthews E, Attarian S, Bendahan D, Garibaldi M, Fionda L, Alonso-Jiménez A, Carlier R, Okhovat AA, Nafissi S, Nalini A, Vengalil S, Hollingsworth K, Marini-Bettolo C, Straub V, Tasca G, Bacardit J, Díaz-Manera J, Myo‐Guide Consortium.   +58 more
europepmc   +2 more sources

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

Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I [PDF]

, 2017
Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the 3'-UTR of the dystrophia myotonica protein kinase (DMPK) gene.
Beat Erne, Christopher Eickhorst, Corrado Angelini, Denis, Denis Furling, Dunne, Hart, Kathrin Chojnowska, Laustriat, Lee, Li, Lueck, Marielle Brockhoff, Markus A. Rüegg, Michael Sinnreich, Mizushima, Nathalie Rion, Perrine Castets, Stephan Frank, Tatiana Wiktorowicz   +19 more
core   +4 more sources

Clinical Characteristics and Analysis ofCLCN1in Patients with "EMG Disease" [PDF]

Journal of Clinical Neurology, 2012
While the etiology and clinical features of "EMG disease" - which is characterized by diffusely increased insertional activity on needle electromyography (EMG) in the absence of neuromuscular disease - are not well known, some authorities believe it may be a form of myotonia congenita (MC). The aims of this study were to determine the clinical features
Nam, Tai-Seung, Jung, Hyun-Jung, Choi, Seok-Yong, Kim, Young-Ok, Kim, Myeong-Kyu, Cho, Ki-Hyun   +5 more
openaire   +2 more sources

Whole-exome analysis in osteosarcoma to identify a personalized therapy [PDF]

, 2017
Osteosarcoma is the most common pediatric primary non-hematopoietic bone tumor. Survival of these young patients is related to the response to chemotherapy and development of metastases.
Aretini, Paolo, Carletti, Raffaella, Chiappetta, Caterina, Civita, Prospero, De Gregorio, Veronica, DELLA ROCCA, Carlo, DI CRISTOFANO, Claudio, Franceschi, Sara, Lessi, Francesca, Mancini, Massimiliano, Mazzanti, Chiara M., Naccarato, Antonio G., Petrozza, Vincenzo, Puggioni, Chiara   +13 more
core   +1 more source

Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene

The Turkish Journal of Pediatrics, 2020
Background and Objectives. Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease).
Nezir Özgün, Hasan Taşlıdere
doaj   +1 more source

Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people

Medicine, 2022
Background: This study aimed to characterize the genetic, pathological, and clinical alterations of 17 patients in China presenting with nondystrophic myotonia (NDM) and to analyze the relationship between genotype and clinical phenotype.
Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, Jing Zhang   +5 more
openaire   +2 more sources

Identification of plant-derived alkaloids with therapeutic potential for myotonic dystrophy type I [PDF]

, 2016
Myotonic dystrophy type I (DM1) is a disabling neuromuscular disease with no causal treatment available. This disease is caused by expanded CTG trinucleotide repeats in the 3 UTR of the dystrophia myotonica protein kinase gene. On the RNA level, expanded
Erne, B., Faleschini, M. T., Hamburger, M., Herrendorff, R., Kern, F., Kinter, J., Potterat, O., Sinnreich, M., Stiefvater, A., Wiktorowicz, T.   +9 more
core   +1 more source

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

PLoS ONE, 2020
Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4.
Chenyu Zhao, DongFang Tang, Hui Huang, Haiyan Tang, Yuan Yang, Min Yang, Yingying Luo, Huai Tao, Jianguang Tang, Xi Zhou, Xiaoliu Shi   +10 more
doaj   +1 more source