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Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development

Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3613930

Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development

About this item

Full title

Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development

Publisher

United States: American Society for Clinical Investigation

Journal title

The Journal of clinical investigation, 2013-04, Vol.123 (4), p.1638-1646

Language

English

Formats

Publication information

Publisher

United States: American Society for Clinical Investigation

More information

Scope and Contents

Contents

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 Ca2+ channel CaV1.2 in nonexcitable cells. How abnormal Ca2+ influx through CaV1.2 underlies phenotypes such as the accompa...

Alternative Titles

Full title

Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3613930

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3613930

Other Identifiers

ISSN

0021-9738,1558-8238

E-ISSN

1558-8238

DOI

10.1172/JCI66903

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