Zobrazeno 1 - 10
of 366
pro vyhledávání: '"COLQ"'
Autor:
Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsib
Externí odkaz:
https://doaj.org/article/0c457896fc3643a7a402678d0e4d1664
Autor:
Mohammad Farid Mohammadi, Sahand Tehrani Fateh, Hadi Aghajani, Afshin Bahramy, Seyed Mohammad Salar Zaheryani, Javad Behroozi, Seyyed Mohammad Kahani, Pouria Mohammadi, Masoud Garshasbi
Publikováno v:
Clinical Case Reports, Vol 11, Iss 10, Pp n/a-n/a (2023)
Key Clinical Message Congenital myasthenic syndromes‐5 (CMS5) is a rare autosomal recessive heterogeneous disorder, caused by pathogenic variants in the COLQ that lead to skeletal muscle weakness and abnormal fatigability. The onset is usually from
Externí odkaz:
https://doaj.org/article/df4b91691d194b778f63d76417dd44d8
Publikováno v:
Heliyon, Vol 9, Iss 9, Pp e19980- (2023)
Congenital myasthenia syndromes (CMS) are a heterogeneous group of hereditary disorders of the neuromuscular junction. The symptoms include fatigue, muscle weakness, ptosis, mastication or swallowing problem, respiratory distress. We present a 42-yea
Externí odkaz:
https://doaj.org/article/d5932be72aa042ada968c20d11defda8
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or transient muscle fatigability and weakness. To date, 32 genes were found to be involved in
Externí odkaz:
https://doaj.org/article/e15bf9b62e19425a8c18e46f8a16af4a
Publikováno v:
Heliyon, Vol 9, Iss 2, Pp e13272- (2023)
Objective: To report two cases of congenital myasthenic syndromes (CMS) in a Chinese family with mutations in the COLQ gene and to prove the consequence defect of the ColQ protein. Method: Clinical characteristics of the two children from the same fa
Externí odkaz:
https://doaj.org/article/9f147f2c89194904806719745cb2a383
Akademický článek
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Autor:
Xiaona Luo, Chunmei Wang, Longlong Lin, Fang Yuan, Simei Wang, Yilin Wang, Anqi Wang, Chao Wang, Shengnan Wu, Xiaoping Lan, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Jiaming Xi, Jie Zhang, Xiaomin Sun, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
The gene encoding collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) is responsible for the transcription of three strands of collagen of acetylcholinesterase, which is attached to the endplate of neuromuscular junctions. Mutations
Externí odkaz:
https://doaj.org/article/6939934fb6e9403f8f54ed0089c01920
Autor:
Jennifer Karmouch, Perrine Delers, Fannie Semprez, Nouha Soyed, Julie Areias, Guy Bélanger, Aymeric Ravel-Chapuis, Alexandre Dobbertin, Bernard J. Jasmin, Claire Legay
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Collagen Q (COLQ) is a specific collagen that anchors acetylcholinesterase (AChE) in the synaptic cleft of the neuromuscular junction. So far, no mutation has been identified in the ACHE human gene but over 50 different mutations in the COLQ gene are
Externí odkaz:
https://doaj.org/article/d01ca21843fd4ff3a761d1c86a17dfbd
Autor:
Cartaud, Annie, Strochlic, Laure, Guerra, Manuel, Blanchard, Benoît, Lambergeon, Monique, Krejci, Eric, Cartaud, Jean, Legay, Claire
Publikováno v:
The Journal of Cell Biology, 2004 May . 165(4), 505-515.
Externí odkaz:
https://www.jstor.org/stable/1622150
Publikováno v:
Translational Neuroscience, Vol 8, Iss 1, Pp 65-69 (2017)
Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The
Externí odkaz:
https://doaj.org/article/21fe10b706bb449c8a7cdc866024becd