Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome-Reference-Cited by-同舟云学术

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Published:2017-07 Issue:1 Volume:101 Page:123-129
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Halim Danny,Brosens Erwin,Muller Françoise,Wangler Michael F.,Beaudet Arthur L.,Lupski James R.,Akdemir Zeynep H. Coban,Doukas Michael,Stoop Hans J.,de Graaf Bianca M.,Brouwer Rutger W.W.,van Ijcken Wilfred F.J.,Oury Jean-François,Rosenblatt Jonathan,Burns Alan J.,Tibboel Dick,Hofstra Robert M.W.,Alves Maria M.

Funder

National Human Genome Research Institute and the National Heart, Lung, and Blood Institute

Stitching Sophia Kinderziekenhuis Fonds

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Dedicated myosin light chain kinases with diverse cellular functions;Kamm;J. Biol. Chem.,2001

2. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls;Berdon;AJR Am. J. Roentgenol.,1976

3. Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management;Wymer;J. Pediatr. Surg.,2016

4. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis;Thorson;Hum. Genet.,2014

5. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome;Wangler;PLoS Genet.,2014

Cited by 69 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The genetics of spontaneous coronary artery dissection: a scoping review;Journal of Cardiovascular Medicine;2024-06-25

2. Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy;Science Advances;2024-05-31

3. Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome;Molecular Genetics and Genomics;2024-04-16

4. Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies;Clinical Journal of Gastroenterology;2024-03-09

5. The SNHG12/microRNA-15b-5p/MYLK axis regulates vascular smooth muscle cell phenotype to affect intracranial aneurysm formation;Microvascular Research;2024-03