@article {261,
	title = {Mutations in Alstr{\"o}m protein impair terminal differentiation of cardiomyocytes.},
	journal = {Nat Commun},
	volume = {5},
	year = {2014},
	month = {2014 Mar 04},
	pages = {3416},
	abstract = {<p>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 in the proband, and confirm their presence in her affected sibling, one copy inherited from each heterozygous parent. Next, we recognize homozygous or compound heterozygous truncating mutations in ALMS1 in four other children with high levels of postnatal cardiomyocyte proliferation. Alms1 mRNA knockdown increases multiple markers of proliferation in cardiomyocytes, the percentage of cardiomyocytes in G2/M phases, and the number of cardiomyocytes by 10\% in cultured cells. Homozygous Alms1-mutant mice have increased cardiomyocyte proliferation at 2 weeks postnatal compared with wild-type littermates. We conclude that deficiency of Alstr{\"o}m protein impairs postnatal cardiomyocyte cell cycle arrest. </p>},
	keywords = {Animals, Cell Cycle, Cell Differentiation, Cells, Cultured, DNA-Binding Proteins, Humans, Immunohistochemistry, Mice, Molecular Sequence Data, Mutation, Myocytes, Cardiac, Proteins, Reverse Transcriptase Polymerase Chain Reaction},
	issn = {2041-1723},
	doi = {10.1038/ncomms4416},
	author = {Shenje, Lincoln T and Andersen, Peter and Halushka, Marc K and Lui, Cecillia and Fernandez, Laviel and Collin, Gayle B and Amat-Alarcon, Nuria and Meschino, Wendy and Cutz, Ernest and Chang, Kenneth and Yonescu, Raluca and Batista, Denise A S and Chen, Yan and Chelko, Stephen and Crosson, Jane E and Scheel, Janet and Vricella, Luca and Craig, Brian D and Marosy, Beth A and Mohr, David W and Hetrick, Kurt N and Romm, Jane M and Scott, Alan F and Valle, David and Naggert, J{\"u}rgen K and Kwon, Chulan and Doheny, Kimberly F and Judge, Daniel P}
}
