Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseA gain-of-function mutation in TRPA1 causes familial episodic pain syndromeInhibition of the cation channel TRPV4 improves bladder function in mice and rats with cyclophosphamide-induced cystitisPain as a channelopathyInternational Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel familyTransient receptor potential (TRP) channels as drug targets for diseases of the digestive systemTransient receptor potential channel C5 in cancer chemoresistanceGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Charcot-Marie-Tooth disease and intracellular trafficCrystal structure of the N-terminal ankyrin repeat domain of TRPV3 reveals unique conformation of finger 3 loop critical for channel functionStructural and Biochemical Consequences of Disease-Causing Mutations in the Ankyrin Repeat Domain of the Human TRPV4 ChannelTRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂TRP Channels in Skin Biology and PathophysiologyTransient receptor potential channels as therapeutic targetsMutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cellsTRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasisTRPV channels and vascular functionDominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesCMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 geneWhy individual thermo sensation and pain perception varies? Clue of disruptive mutations in TRPVs from 2504 human genome data.The puzzle of TRPV4 channelopathies.Transient receptor potential (TRP) channels: a clinical perspectiveTRP channels in lower urinary tract dysfunction.100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the futureIncreased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutationsMice expressing mutant Trpv4 recapitulate the human TRPV4 disordersPhysiological and pathological functions of mechanosensitive ion channels.The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanTRPV4-pathy, a novel channelopathy affecting diverse systems.TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.TRPV4 mutations in children with congenital distal spinal muscular atrophy.TRPV4-associated skeletal dysplasias.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesCharacterization of functional TRPV1 channels in the sarcoplasmic reticulum of mouse skeletal muscleAxonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.Neuronal store-operated calcium entry pathway as a novel therapeutic target for Huntington's disease treatment.Structural biology of TRP channels.
P2860
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P2860
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@ast
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@en
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@nl
type
label
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@ast
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@en
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@nl
prefLabel
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@ast
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@en
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
@en
P2093
Addis A Taye
Anselm A Zdebik
Barrington G Burnett
Charlotte J Sumner
Christopher B Phelps
Clare H Munns
Guida Landouré
Horia C Stanescu
Kenneth H Fischbeck
Lingling Kong
P2860
P2888
P356
10.1038/NG.512
P407
P577
2010-02-01T00:00:00Z
P5875
P6179
1009212353