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-associated skeletal dysplasias
Gen Nishimura et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
Mutations in TRPV4 cause an inherited arthropathy of hands and feet
Shireen R. Lamande et al.
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Dominant TRPV4 Mutations in Nonlethal and Lethal Metatropic Dysplasia
Natalia Camacho et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (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.
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The vanilloid transient receptor potential channel TRPV4: From structure to disease
Wouter Everaerts et al.
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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)
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
Matthew J. Rock et al.
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OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulum
Yan Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation
Shuji Muramatsu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding
Thomas Gevaert et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Dominance of SOX9 function over RUNX2 during skeletogenesis
Guang Zhou et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Analysis of the native quaternary structure of vanilloid receptor 1
N Kedei et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)