相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Differential Regulation of TRPV1, TRPV3, and TRPV4 Sensitivity through a Conserved Binding Site on the Ankyrin Repeat Domain
Christopher B. Phelps et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Michaela Auer-Grumbach et al.
NATURE GENETICS (2010)
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
Han-Xiang Deng et al.
NATURE GENETICS (2010)
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
Guida Landoure et al.
NATURE GENETICS (2010)
Channelopathies converge on TRPV4
Bernd Nilius et al.
NATURE GENETICS (2010)
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
Deborah Krakow et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
Kristl G. Claeys et al.
BRAIN (2009)
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24
R. Schuele et al.
NEUROLOGY (2009)
Stimulus-specific modulation of the cation channel TRPV4 by PACSIN 3
Dieter D'hoedt et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
A primer on ankyrin repeat function in TRP channels and beyond
Rachelle Gaudet
MOLECULAR BIOSYSTEMS (2008)
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
Matthew J. Rock et al.
NATURE GENETICS (2008)
The laminopathies: a clinical review
J. Rankin et al.
CLINICAL GENETICS (2006)
Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking
M Arniges et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
K Sivakumar et al.
BRAIN (2005)
Distal spinal and bulbar muscular atrophy caused by dynactin mutation
I Puls et al.
ANNALS OF NEUROLOGY (2005)
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
M Auer-Grumbach et al.
ANNALS OF NEUROLOGY (2005)
Homo- and heteromeric assembly of TRPV channel subunits
N Hellwig et al.
JOURNAL OF CELL SCIENCE (2005)
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24
ME McEntagart et al.
ANNALS OF NEUROLOGY (2005)
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene
T Stojkovic et al.
NEUROMUSCULAR DISORDERS (2004)
Ca2+-selective transient receptor potential V channel architecture and function require a specific ankyrin repeat
I Erler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
J Irobi et al.
NATURE GENETICS (2004)
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
T Sevilla et al.
BRAIN (2003)
Anandamide and arachidonic acid use epoxyeicosatrienoic acids to activate TRPV4 channels
H Watanabe et al.
NATURE (2003)
The TRPV4 channel: structure-function relationship and promiscuous gating behaviour
B Nilius et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2003)
The gene for HMSN2C maps to 12q23-24 - A region of neuromuscular disorders
CJ Klein et al.
NEUROLOGY (2003)
Mutant dynactin in motor neuron disease
I Puls et al.
NATURE GENETICS (2003)
Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness
M McEntagart et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2002)
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
L Santoro et al.
NEUROMUSCULAR DISORDERS (2002)
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14
M McEntagart et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor
W Liedtke et al.
CELL (2000)
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation
D Pareyson et al.
NEUROLOGY (2000)