Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q24595706

about

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin 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 Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 reveals unique conformation of finger 3 loop critical for channel function 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.ATP7A-related copper transport diseases-emerging concepts and future trends Facilitation of TRPV4 by TRPV1 is required for itch transmission in some sensory neuron populations 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 The puzzle of TRPV4 channelopathies.Transient receptor potential (TRP) channels: a clinical perspective 100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations Forward genetic analysis reveals multiple gating mechanisms of TRPV4 The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).Physiological and pathological functions of mechanosensitive ion channels.Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.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.Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.Angiostatic factors in the pulmonary endarterectomy material from chronic thromboembolic pulmonary hypertension patients cause endothelial dysfunction.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies Characterization of functional TRPV1 channels in the sarcoplasmic reticulum of mouse skeletal muscle Double-stranded RNA attenuates the barrier function of human pulmonary artery endothelial cells.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.Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy TRPV4 mediates myofibroblast differentiation and pulmonary fibrosis in mice.Structural biology of TRP channels.

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

http://www.wikidata.org/entity/Q24595706

description

2010 nî lūn-bûn

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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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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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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Nature Genetics

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Alterations in the ankyrin dom ...... scapuloperoneal SMA and HMSN2C

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Andrew H Crosby

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Angelika Krebs

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Bi Tang

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

Carina Fischer

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Cheryl Longman

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

Conny M A van Ravenswaaij-Arts

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George W Padberg

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Hannie Kremer

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Heimo Strohmaier

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Helenius J Schelhaas

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P2860

OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity

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

Phospholipase Cgamma1 controls surface expression of TRPC3 through an intermolecular PH domain

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

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

Transient receptor potential cation channels in disease

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

TRP channels as cellular sensors

Mammalian TRPV4 (VR-OAC) directs behavioral responses to osmotic and mechanical stimuli in Caenorhabditis elegans

Abnormal osmotic regulation in trpv4-/- mice.

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10.1038/NG.508

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2

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42

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Andrea Olschewski

Hanns Lochmüller

Michaela Auer-Grumbach

Beate Schlotter-Weigel

Eleonore Fröhlich

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2010-02-01T00:00:00Z

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40786334

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1014815616

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20037588

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3272392

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