Associated Papers
Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.
Devavarapu PKV et al.
Clinical Journal of Gastroenterology, 2024
Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.
Ceron RH et al.
Science Advances, 2024
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
Brar BK et al.
Prenatal Diagnosis, 2024
Heterozygous Actg2R257C mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.
Cai H et al.
Neurogastroenterology and Motility, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
Hashmi SK et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021
Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients.
Wei Z et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Pseudo-obstruction-inducing ACTG2R257C alters actin organization and function.
Hashmi SK et al.
Jci Insight, 2020
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir N et al.
Human Mutation, 2020
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.
Collins RRJ et al.
International Journal of Surgical Pathology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Ravenscroft G et al.
Neurogastroenterology and Motility, 2018
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.
Milunsky A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D et al.
Human Molecular Genetics, 2016
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Wangler MF et al.
Plos Genetics, 2014
ACTG2-Related Visceral Myopathy: Case Reports with Phenotypic Variations and Review of the Previously Published Cases.
Süüden EL et al.
Fetal and Pediatric Pathology, 0