Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C-Reference-Cited by-同舟云学术

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Published:2009-12-27 Issue:2 Volume:42 Page:170-174
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Landouré Guida,Zdebik Anselm A,Martinez Tara L,Burnett Barrington G,Stanescu Horia C,Inada Hitoshi,Shi Yijun,Taye Addis A,Kong Lingling,Munns Clare H,Choo Shelly S,Phelps Christopher B,Paudel Reema,Houlden Henry,Ludlow Christy L,Caterina Michael J,Gaudet Rachelle,Kleta Robert,Fischbeck Kenneth H,Sumner Charlotte J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.512.pdf

Reference38 articles.

1. Skre, H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet. 6, 98–118 (1974).

2. Dyck, P.J. et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann. Neurol. 35, 608–615 (1994).

3. Santoro, L. et al. Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. Neuromuscul. Disord. 12, 399–404 (2002).

4. McEntagart, M.E. et al. Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23–q24. Ann. Neurol. 57, 293–297 (2005).

5. Klein, C.J. et al. The gene for HMSN2C maps to 12q23–24: a region of neuromuscular disorders. Neurology 60, 1151–1156 (2003).

Cited by 264 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical Characteristics and Whole Exome Sequencing Analysis in Serbian Cases of Clubfoot Deformity—Single Center Study;Children;2024-05-27

2. Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice;Science Translational Medicine;2024-05-22

3. Retinal Mechanical Sensation;Physiology;2024-05-06

4. TRPV4 promotes HBV replication and capsid assembly via methylation modification of H3K4 and HBc ubiquitin;Journal of Medical Virology;2024-04

5. Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII;Frontiers in Pediatrics;2024-03-18