Mutations in Alström protein impair terminal differentiation of cardiomyocytes.

doi:10.1038/ncomms4416

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Article

Mutations in Alström protein impair terminal differentiation of cardiomyocytes.

Nature communications - 4 Mar 2014

Shenje Lincoln T, Andersen Peter, Halushka Marc K, Lui Cecillia, Fernandez Laviel, Collin Gayle B, Amat-Alarcon Nuria, Meschino Wendy, Cutz Ernest, Chang Kenneth, Yonescu Raluca, Batista Denise A S, Chen Yan, Chelko Stephen, Crosson Jane E, Scheel Janet, Vricella Luca, Craig Brian D, Marosy Beth A, Mohr David W, Hetrick Kurt N, Romm Jane M, Scott Alan F, Valle David, Naggert Jürgen K, Kwon Chulan, Doheny Kimberly F, Judge Daniel P

Abstract excerpt

Cardiomyocyte cell division and replication in mammals proceed through embryonic development and abruptly decline soon after birth. The process governing cardiomyocyte cell cycle arrest is poorly understood. Here we carry out whole-exome sequencing in an infant with evidence of persistent postnatal cardiomyocyte replication to determine the genetic risk factors. We identify compound heterozygous ALMS1 mutations...

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Identifiers

PMID: 24595103
DOI: 10.1038/ncomms4416
PMCID: PMC3992616

Genes

ALMS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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