PMC Articles for MedGen (Select 1780019) - PMC

Select item 96324651.

The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders

Natascha S. Sandy, Koen Huysentruyt, Daniel J. Mulder, Neil Warner, Karen Chong, Chantal Morel, Saleh AlQahtani, Paul W. Wales, Martin G. Martin, Aleixo M. Muise, Yaron Avitzur

J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2022 Nov 3.

Published in final edited form as: J Pediatr Gastroenterol Nutr. 2022 May 1; 74(5): 575–581. doi: 10.1097/MPG.0000000000003400

PMCID:: PMC9632465

Abstract Article PDF–632K

Select item 86062092.

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien

Mol Genet Genomic Med. 2021 Nov; 9(11): e1814. Published online 2021 Oct 21. doi: 10.1002/mgg3.1814

PMCID:: PMC8606209

Abstract Article PDF–611K

Select item 77204293.

Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy

Nurit Assia Batzir, Pranjali K. Bhagwat, Austin Larson, Zeynep C. Akdemir, Maciej Bagłaj, Leon Bofferding, Katherine B. Bosanko, Skander Bouassida, Bert Callewaert, Ashley Cannon, Yazmin E. Colon, Adolfo D. Garnica, Margaret H. Harr, Sandra Heck, Anna C. Hurst, Shalini N. Jhangiani, Bertrand Isidor, Rebecca O. Littlejohn, Pengfei Liu, Pilar Magoulas, Helen Mar Fan, Ronit Marom, Scott McLean, Marjan M. Nezarati, Kimberly M. Nugent, Michael B. Petersen, Maria L. Rocha, Elizabeth Roeder, Robert Smigiel, Ian Tully, James Weisfeld-Adams, Katerina O. Wells, Baylor-Hopkins Center for Mendelian Genomics Jennifer E. Posey, James R. Lupski, Arthur L. Beaudet, Michael F. Wangler

Hum Mutat. Author manuscript; available in PMC 2021 Mar 1.

Published in final edited form as: Hum Mutat. 2020 Mar; 41(3): 641–654. Published online 2019 Dec 19. doi: 10.1002/humu.23960

PMCID:: PMC7720429

Abstract Article PDF–1.5M

Select item 45382154.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, Steven M Harrison, Linda A Baker, Françoise Couture, Isabelle Thiffault, Reda Ouazzani, Mark E Samuels, Grant A Mitchell, Guy A Rouleau, Jacques L Michaud, Jean- François Soucy

Eur J Hum Genet. 2015 Sep; 23(9): 1266–1268. Published online 2014 Nov 19. doi: 10.1038/ejhg.2014.256

PMCID:: PMC4538215

Abstract Article PDF–485K

Select item 39679505.

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J. Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A. Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M. Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A. Gibbs, James R. Lupski, Arthur Beaudet

PLoS Genet. 2014 Mar; 10(3): e1004258. Published online 2014 Mar 27. doi: 10.1371/journal.pgen.1004258

PMCID:: PMC3967950

Abstract Article PDF–1.8M

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