Increased Basal Activity Is a Key Determinant in the Severity of Human Skeletal Dysplasia Caused by TRPV4 Mutations-Reference-Cited by-同舟云学术

Increased Basal Activity Is a Key Determinant in the Severity of Human Skeletal Dysplasia Caused by TRPV4 Mutations

Published:2011-05-05 Issue:5 Volume:6 Page:e19533
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Loukin Stephen,Su Zhenwei,Kung Ching

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference52 articles.

1. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.;G Nishimura;Am J Med Genet A,2010

2. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.;J Dai;J Med Genet,2010

3. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.;N Camacho;Am J Med Genet A,2010

4. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.;D Krakow;Am J Hum Genet,2009

5. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.;MJ Rock;Nat Genet,2008

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