ACTG2variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome-Reference-Cited by-同舟云学术

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ACTG2variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Published:2015-12-08 Issue:3 Volume:25 Page:571-583
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Halim Danny,Hofstra Robert M.W.,Signorile Luca,Verdijk Rob M.,van der Werf Christine S.,Sribudiani Yunia,Brouwer Rutger W. W.,van IJcken Wilfred F.J.,Dahl Niklas,Verheij Joke B.G.M.,Baumann Clarisse,Kerner John,van Bever Yolande,Galjart Niels,Wijnen Rene M.H.,Tibboel Dick,Burns Alan J.,Muller Françoise,Brooks Alice S.,Alves Maria M.

Funder

the Stichting Sophia Kinderziekenhuis Fonds

the Erasmus TrustFonds

the Top subsidy

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/25/3/571/18527555/ddv497.pdf

Reference32 articles.

1. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls

2. Megacystic microcolon intestinal hypoperistalsis syndrome: Evidence of a primary myocellular defect of contractile fiber synthesis

3. Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopathy

4. Absent Smooth Muscle Actin Immunoreactivity of the Small Bowel Muscularis Propria Circular Layer in Association with Chromosome 15q11 Deletion in Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

5. Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor

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1. Multi-omics profiling combined with molecular docking reveals immune-inflammatory proteins as potential drug targets in colorectal cancer;Biochemical and Biophysical Research Communications;2024-12

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. Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): challenges in diagnosis and management;BMJ Case Reports;2024-04

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

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