Associated Papers
Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.
Hilberath J et al.
Orphanet Journal of Rare Diseases, 2025
Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.
Chen Y et al.
Frontiers in Medicine, 2025
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
Heterozygous Actg2R257C mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.
Cai H et al.
Neurogastroenterology and Motility, 2023
Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.
Geraghty RM et al.
Journal of Rare Diseases (berlin, Germany), 2023
The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.
Sandy NS et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis.
Hahn JW et al.
Journal of Neurogastroenterology and Motility, 2022
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
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Billon C et al.
Clinical Genetics, 2020
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
Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association.
Camilleri M et al.
Neurogastroenterology and Motility, 2019
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
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.
Korğalı EÜ et al.
Fetal and Pediatric Pathology, 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
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Moreno CA et al.
American Journal of Medical Genetics. Part A, 2016
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
Matera I et al.
European Journal of Human Genetics : Ejhg, 2016
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D et al.
Human Molecular Genetics, 2016
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
Thorson W et al.
Human Genetics, 2014
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