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

Transient receptor potential cation channel, subfamily V, member 4 (TRPV4) is a polymodal modulated non‐selective cation channel required for normal development and maintenance of bone and cartilage. Heterozygous mutations of this channel cause a variety of channelopathies, including metatropic dysp...

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Veröffentlicht in:	American journal of medical genetics. Part A 2015-10, Vol.167A (10), p.2286-2293
Hauptverfasser:	Hurd, Lauren, Kirwin, Susan M., Boggs, Mary, Mackenzie, William G., Bober, Michael B., Funanage, Vicky L., Duncan, Randall L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Bone and Bones - metabolism Bone and Bones - pathology Calcium (intracellular) Calcium Channel Agonists - pharmacology Calcium Channel Blockers - pharmacology Calcium Signaling Calcium signalling Cartilage Cartilage - metabolism Cartilage - pathology Child, Preschool Chondrocytes Chondrocytes - drug effects Chondrocytes - metabolism Chondrocytes - pathology Dwarfism - genetics Dwarfism - metabolism Dwarfism - pathology Dysplasia Female Gene Expression Humans intracellular calcium signaling Kinetics Leucine - analogs & derivatives Leucine - pharmacology metatropic dysplasia Mutation Osmotic Pressure Osteochondrodysplasias - genetics Osteochondrodysplasias - metabolism Osteochondrodysplasias - pathology Phenotype Primary Cell Culture Severity of Illness Index Sulfonamides - pharmacology Transient receptor potential proteins TRPV Cation Channels - agonists TRPV Cation Channels - antagonists & inhibitors TRPV Cation Channels - genetics TRPV Cation Channels - metabolism TRPV4
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