Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q27658802

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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome Inhibition of the cation channel TRPV4 improves bladder function in mice and rats with cyclophosphamide-induced cystitis Pain as a channelopathy International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family Transient receptor potential (TRP) channels as drug targets for diseases of the digestive system Transient receptor potential channel C5 in cancer chemoresistance Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Charcot-Marie-Tooth disease and intracellular traffic Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 reveals unique conformation of finger 3 loop critical for channel function Structural and Biochemical Consequences of Disease-Causing Mutations in the Ankyrin Repeat Domain of the Human TRPV4 Channel TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂ TRP Channels in Skin Biology and Pathophysiology Transient receptor potential channels as therapeutic targets Mutations 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 cells TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis TRPV channels and vascular function Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene Why 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 perspective TRP channels in lower urinary tract dysfunction.100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders Physiological 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 Taiwan TRPV4-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 atrophies Characterization of functional TRPV1 channels in the sarcoplasmic reticulum of mouse skeletal muscle Axonal 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.

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

http://www.wikidata.org/entity/Q27658802

description

2010 nî lūn-bûn

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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի փետրվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

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

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

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

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type

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

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

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

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

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

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

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Nature Genetics

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

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Addis A Taye

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Anselm A Zdebik

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Barrington G Burnett

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Charlotte J Sumner

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Christopher B Phelps

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Clare H Munns

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Guida Landouré

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Horia C Stanescu

http://www.w3.org/2001/XMLSchema#string

Kenneth H Fischbeck

http://www.w3.org/2001/XMLSchema#string

Lingling Kong

http://www.w3.org/2001/XMLSchema#string

P2860

Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking

The ankyrin repeats of TRPV1 bind multiple ligands and modulate channel sensitivity

Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor

Structural Analyses of the Ankyrin Repeat Domain of TRPV6 and Related TRPV Ion Channels † , ‡

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.

PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4

Parametric and nonparametric linkage analysis: a unified multipoint approach

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.

Differential expression of the capsaicin receptor TRPV1 and related novel receptors TRPV3, TRPV4 and TRPM8 in normal human tissues and changes in traumatic and diabetic neuropathy

Identification and characterization of novel TRPV4 modulators.

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170-4

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scholarly article

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10.1038/NG.512

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2

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42

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Rachelle Gaudet

Christy L. Ludlow

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2010-02-01T00:00:00Z

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40786332

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1009212353

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20037586

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2812627

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