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Title
TRPV4-associated skeletal dysplasias
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 160C, Issue 3, Pages 190-204
Publisher
Wiley
Online
2012-07-14
DOI
10.1002/ajmg.c.31335
References
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Related references
Note: Only part of the references are listed.- TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients
- (2012) Tae-Joon Cho et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
- (2011) Sheila Unger et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Nosology and classification of genetic skeletal disorders: 2010 revision
- (2011) Matthew L. Warman et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mutations in TRPV4 cause an inherited arthropathy of hands and feet
- (2011) Shireen R Lamandé et al. NATURE GENETICS
- TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
- (2011) Elena Andreucci et al. Orphanet Journal of Rare Diseases
- The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)
- (2011) Stefan F. Nemec et al. PEDIATRIC RADIOLOGY
- Increased Basal Activity Is a Key Determinant in the Severity of Human Skeletal Dysplasia Caused by TRPV4 Mutations
- (2011) Stephen Loukin et al. PLoS One
- DominantTRPV4mutations in nonlethal and lethal metatropic dysplasia
- (2010) Natalia Camacho et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Chondroprotective role of the osmotically sensitive ion channel transient receptor potential vanilloid 4: Age- and sex-dependent progression of osteoarthritis in Trpv4-deficient mice
- (2010) Andrea L. Clark et al. ARTHRITIS AND RHEUMATISM
- Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
- (2010) J. Dai et al. JOURNAL OF MEDICAL GENETICS
- Channelopathies converge on TRPV4
- (2010) Bernd Nilius et al. NATURE GENETICS
- CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene
- (2010) D.- H. Chen et al. NEUROLOGY
- Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
- (2009) Deborah Krakow et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
- (2009) Guida Landouré et al. NATURE GENETICS
- The vanilloid transient receptor potential channel TRPV4: From structure to disease
- (2009) Wouter Everaerts et al. PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY
- Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature
- (2008) D. Geneviève et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- TRPV4-Mediated Calcium Influx Regulates Terminal Differentiation of Osteoclasts
- (2008) Ritsuko Masuyama et al. Cell Metabolism
- IP3Receptor Binds to and Sensitizes TRPV4 Channel to Osmotic Stimuli via a Calmodulin-binding Site
- (2008) Anna Garcia-Elias et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
- (2008) Matthew J Rock et al. NATURE GENETICS
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