@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}
}
@article {319,
	title = {Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.},
	journal = {Nat Genet},
	volume = {44},
	year = {2012},
	month = {2012 Nov},
	pages = {1249-54},
	abstract = {<p>Elevated transforming growth factor (TGF)-β signaling has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). However, the location and character of many of the causal mutations in LDS intuitively imply diminished TGF-β signaling. Taken together, these data have engendered controversy regarding the specific role of TGF-β in disease pathogenesis. Shprintzen-Goldberg syndrome (SGS) has considerable phenotypic overlap with MFS and LDS, including aortic aneurysm. We identified causative variation in ten individuals with SGS in the proto-oncogene SKI, a known repressor of TGF-β activity. Cultured dermal fibroblasts from affected individuals showed enhanced activation of TGF-β signaling cascades and higher expression of TGF-β-responsive genes relative to control cells. Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS. These data support the conclusions that increased TGF-β signaling is the mechanism underlying SGS and that high signaling contributes to multiple syndromic presentations of aortic aneurysm.</p>},
	keywords = {Animals, Aortic Aneurysm, Arachnodactyly, Cells, Cultured, Craniosynostoses, DNA-Binding Proteins, Fibroblasts, Humans, Loeys-Dietz Syndrome, Marfan Syndrome, Mice, Mutation, Phenotype, Phosphorylation, Proto-Oncogene Proteins, Signal Transduction, Transforming Growth Factor beta, Zebrafish},
	issn = {1546-1718},
	doi = {10.1038/ng.2421},
	author = {Doyle, Alexander J and Doyle, Jefferson J and Bessling, Seneca L and Maragh, Samantha and Lindsay, Mark E and Schepers, Dorien and Gillis, Elisabeth and Mortier, Geert and Homfray, Tessa and Sauls, Kimberly and Norris, Russell A and Huso, Nicholas D and Leahy, Dan and Mohr, David W and Caulfield, Mark J and Scott, Alan F and Destr{\'e}e, Anne and Hennekam, Raoul C and Arn, Pamela H and Curry, Cynthia J and Van Laer, Lut and McCallion, Andrew S and Loeys, Bart L and Dietz, Harry C}
}
