TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families-Reference-Cited by-同舟云学术

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Published:2011 Issue:1 Volume:6 Page:37
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Andreucci Elena,Aftimos Salim,Alcausin Melanie,Haan Eric,Hunter Warwick,Kannu Peter,Kerr Bronwyn,McGillivray George,Gardner RJ McKinlay,Patricelli Maria G,Sillence David,Thompson Elizabeth,Zacharin Margaret,Zankl Andreas,Lamandé Shireen R,Savarirayan Ravi

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference18 articles.

1. Metatropic dysplasia: Clinical and radiographic findings in 11 patients demonstrating long-term natural history

2. Heterogeneity of metatropic dysplasia

3. DominantTRPV4mutations in nonlethal and lethal metatropic dysplasia

4. Spondylometaphyseal dysplasia

5. Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

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1. Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias;2024-08-23

2. Engineering APOBEC3A deaminase for highly accurate and efficient base editing;Nature Chemical Biology;2024-03-29

3. TRPV4 Activator-Containing CMT-Hy Hydrogel Enhances Bone Tissue Regeneration In Vivo by Enhancing Mitochondrial Health;ACS Biomaterials Science & Engineering;2024-03-12

4. TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease;Nature Communications;2023-06-23

5. Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes;eLife;2023-02-22