Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q30495788

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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes Transient receptor potential (TRP) channels as drug targets for diseases of the digestive system Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Structural and Biochemical Consequences of Disease-Causing Mutations in the Ankyrin Repeat Domain of the Human TRPV4 Channel A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance Polymodal Sensory Integration in Retinal Ganglion Cells.TRPV channels and vascular function 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.Genetic spectrum of hereditary neuropathies with onset in the first year of life Physiological 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 atrophies Mutant 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 cells Phenotypic 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 syndrome Patients 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 channels Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder

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

http://www.wikidata.org/entity/Q30495788

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2010 nî lūn-bûn

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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2010 թվականի մայիսին 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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Dominant mutations in the cati ...... usual spectrum of neuropathies

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Dominant mutations in the cati ...... usual spectrum of neuropathies

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Dominant mutations in the cati ...... usual spectrum of neuropathies

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Dominant mutations in the cati ...... usual spectrum of neuropathies

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Dominant mutations in the cati ...... usual spectrum of neuropathies

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Dominant mutations in the cati ...... usual spectrum of neuropathies

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Dominant mutations in the cati ...... usual spectrum of neuropathies

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Andrew H Crosby

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Antonio Garcia

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Charlotte J Sumner

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Christopher E Shaw

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David Hilton-Jones

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Eduardo Lopez-Laso

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Guida Landouré

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Henry Houlden

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Jonathan Baets

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José Berciano

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P2860

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

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

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

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

Primer3 on the WWW for general users and for biologist programmers

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

The laminopathies: a clinical review

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

Stimulus-specific modulation of the cation channel TRPV4 by PACSIN 3

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1798-1809

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scholarly article

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10.1093/BRAIN/AWQ109

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Pt 6

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133

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Rachelle Gaudet

Michaela Auer-Grumbach

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Vincent Timmerman

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2010-05-11T00:00:00Z

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44590164

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20460441

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2912694

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