Calcium influx through L-type Ca(V)1.2 Ca(2+) channels regulates mandibular development

The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy Syndrome (TS), a rare disorder characterized by cardiac arrhythmias and syndactyly, highlighted unexpected roles for the L-type voltage-gated Ca(2+) channel Ca(V)1.2 in nonexcitable cells. How abnormal Ca(2+) influx...

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Autori principali: Ramachandran, Kapil V., Hennessey, Jessica A., Barnett, Adam S., Yin, Xinhe, Stadt, Harriett A., Foster, Erika, Shah, Raj A., Yazawa, Masayuki, Dolmetsch, Ricardo E., Kirby, Margaret L., Pitt, Geoffrey S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2013
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3613930/
https://ncbi.nlm.nih.gov/pubmed/23549079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI66903
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