Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
about
Dominant GDAP1 mutations cause predominantly mild CMT phenotypesTransient receptor potential (TRP) channels as drug targets for diseases of the digestive systemGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Structural and Biochemical Consequences of Disease-Causing Mutations in the Ankyrin Repeat Domain of the Human TRPV4 ChannelA dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominancePolymodal Sensory Integration in Retinal Ganglion Cells.TRPV channels and vascular functionCMT2C 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.Genetic spectrum of hereditary neuropathies with onset in the first year of lifePhysiological and pathological functions of mechanosensitive ion channels.TRPV4 mutations in children with congenital distal spinal muscular atrophy.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesMutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.The polymodal ion channel transient receptor potential vanilloid 4 modulates calcium flux, spiking rate, and apoptosis of mouse retinal ganglion cellsPhenotypic variability of TRPV4 related neuropathies.Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth.Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.Ataxia and focal dystonia in Kallmann syndromePatients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.Update on Charcot-Marie-Tooth disease.Inherited neuropathies: clinical overview and update.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Clinical neurogenetics: recent advances.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Spinal Charcot-Marie-Tooth disease: a reappraisal.TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.Application of whole exome sequencing in undiagnosed inherited polyneuropathies.Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.Structural biology of TRP channelsStriking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder
P2860
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P2860
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
description
2010 nî lūn-bûn
@nan
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին 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
Dominant mutations in the cati ...... usual spectrum of neuropathies
@ast
Dominant mutations in the cati ...... usual spectrum of neuropathies
@en
type
label
Dominant mutations in the cati ...... usual spectrum of neuropathies
@ast
Dominant mutations in the cati ...... usual spectrum of neuropathies
@en
prefLabel
Dominant mutations in the cati ...... usual spectrum of neuropathies
@ast
Dominant mutations in the cati ...... usual spectrum of neuropathies
@en
P2093
P2860
P50
P356
P1433
P1476
Dominant mutations in the cati ...... usual spectrum of neuropathies
@en
P2093
Andrew H Crosby
Antonio Garcia
Charlotte J Sumner
Christopher E Shaw
David Hilton-Jones
Eduardo Lopez-Laso
Guida Landouré
Henry Houlden
Jonathan Baets
José Berciano
P2860
P304
P356
10.1093/BRAIN/AWQ109
P407
P50
P577
2010-05-11T00:00:00Z