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。TRPV4-Pathy Manifesting Both Skeletal Dysplasia and Peripheral Neuropathy: A Report of Three Patients
Tae-Joon Cho et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)
Stefan F. Nemec et al.
PEDIATRIC RADIOLOGY (2012)
Fetal Akinesia in Metatropic Dysplasia: The Combined Phenotype of Chondrodysplasia and Neuropathy?
Sheila Unger et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
Matthew L. Warman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Mutations in TRPV4 cause an inherited arthropathy of hands and feet
Shireen R. Lamande et al.
NATURE GENETICS (2011)
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
Elena Andreucci et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Increased Basal Activity Is a Key Determinant in the Severity of Human Skeletal Dysplasia Caused by TRPV4 Mutations
Stephen Loukin et al.
PLOS ONE (2011)
Dominant TRPV4 Mutations in Nonlethal and Lethal Metatropic Dysplasia
Natalia Camacho et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Chondroprotective Role of the Osmotically Sensitive Ion Channel Transient Receptor Potential Vanilloid 4 Age- and Sex-Dependent Progression of Osteoarthritis in Trpv4-Deficient Mice
Andrea L. Clark et al.
ARTHRITIS AND RHEUMATISM (2010)
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
J. Dai et al.
JOURNAL OF MEDICAL 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)
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene
D. -H. Chen et al.
NEUROLOGY (2010)
The vanilloid transient receptor potential channel TRPV4: From structure to disease
Wouter Everaerts et al.
PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY (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)
Revisiting metatropic dysplasia:: Presentation of a series of 19 novel patients and review of the literature
D. Genevieve et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
TRPV4-mediated calcium influx regulates terminal differentiation of Osteoclasts
Ritsuko Masuyama et al.
CELL METABOLISM (2008)
IP3 Receptor Binds to and Sensitizes TRPV4 Channel to Osmotic Stimuli via a Calmodulin-binding Site
Anna Garcia-Elias et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
Matthew J. Rock et al.
NATURE GENETICS (2008)
Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation
Shuji Muramatsu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Metatropic dysplasia: Clinical and radiographic findings in 11 patients demonstrating long-term natural history
Peter Kannu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Expression and functional characterization of transient receptor potential vanilloid-related channel 4 (trpv4) in rat cortical astrocytes
V. Benfenati et al.
NEUROSCIENCE (2007)
PACSINs bind to the TRPV4 cation channel - PACSIN 3 modulates the subcellular localization of TRPV4
Math P. Cuajungco et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
Long-term follow-up in a patient with metatropic dysplasia
D Geneviève et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Spondyloepimetaphyseal (pseudo-Morquio type II dysplasia of Maroteaux syndrome):: Report of a new patient and review of the literature
A Mégarbané et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects
G Nishimura et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site
R Strotmann et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Familial digital arthropathy-brachydactyly
DJ Amor et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor
W Liedtke et al.
CELL (2000)
分享论文
