A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia-Reference-Cited by-同舟云学术

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A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia

Published:2015-08-06 Issue:10 Volume:167 Page:2286-2293
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hurd Lauren¹²,Kirwin Susan M.²,Boggs Mary¹,Mackenzie William G.³,Bober Michael B.³⁴,Funanage Vicky L.¹²,Duncan Randall L.¹

Affiliation:

1. Department of Biological Sciences; University of Delaware; Newark Delaware

2. Molecular Diagnostics Laboratory; Nemours/Alfred I. duPont Hospital for Children; Wilmington Delaware

3. Department of Orthopaedic Surgery; Nemours/Alfred I. duPont Hospital for Children; Wilmington Delaware

4. Division of Genetics; Nemours/Alfred I. duPont Hospital for Children; Wilmington Delaware

Funder

Nemours Foundation Cluster Grant Program

Delaware INBRE

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37182/fullpdf

Reference23 articles.

1. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C;Auer-Grumbach;Nat Genet,2010

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

3. Identification and characterization of a novel human vanilloid receptor-like protein , VRL-2;Delany;Physiol Genomics,2001

4. Heat-evoked activation of the ion channel, TR P V4;Güler;J Neurosci,2002

5. Metatropic dysplasia lethal variants;Hall;Pediatr Radiol,2004

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Multifaceted Functions of TRPV4 and Calcium Oscillations in Tissue Repair;International Journal of Molecular Sciences;2024-01-18

2. Insulin-like growth factor-1 regulates the mechanosensitivity of chondrocytes by modulating TRPV4;Cell Calcium;2021-11

3. Extracellular Matrix Stiffness Alters TRPV4 Regulation in Chondrocytes;2021-09-14

4. Impaired neurite development and mitochondrial dysfunction associated with calcium accumulation in dopaminergic neurons differentiated from the dental pulp stem cells of a patient with metatropic dysplasia;Biochemistry and Biophysics Reports;2021-07

5. Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype;European Journal of Paediatric Neurology;2021-05

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