Novel mutations highlight the key role of the ankyrin repeat domain inTRPV4-mediated neuropathy-Reference-Cited by-同舟云学术

Novel mutations highlight the key role of the ankyrin repeat domain inTRPV4-mediated neuropathy

Published:2015-10-22 Issue:4 Volume:1 Page:e29
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Sullivan Jeremy M.,Zimanyi Christina M.,Aisenberg William,Bears Breanne,Chen Dong-Hui,Day John W.,Bird Thomas D.,Siskind Carly E.,Gaudet Rachelle,Sumner Charlotte J.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),Clinical Neurology

Reference37 articles.

1. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

2. TRPV4 mutations in children with congenital distal spinal muscular atrophy;Fiorillo;Neurogenetics,2012

3. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

4. Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

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

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2. Structural Pharmacology of TRPV4 Antagonists;Advanced Science;2024-04-24

3. A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review;BMC Neurology;2023-06-30

4. Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series;Neuromuscular Diseases;2023-06-15

5. Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity;Journal of Neurosurgery: Pediatrics;2023-03-01