Associated Papers
Actg2D245G Mutation Causes Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome by Impairing Smooth Muscle Contractility.
Zhou J et al.
Journal of Pediatric Surgery, 2025
Dynamical features of smooth muscle actin pathological mutants: The arginine-257(258)-Cysteine cases.
Chiappori F et al.
Computational and Structural Biotechnology Journal, 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
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW et al.
Prenatal Diagnosis, 2023
Heterozygous Actg2R257C mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.
Cai H et al.
Neurogastroenterology and Motility, 2023
ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis.
Hahn JW et al.
Journal of Neurogastroenterology and Motility, 2022
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
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene.
Ignasiak-Budzyńska K et al.
Case Reports in Gastrointestinal Medicine, 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
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
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
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
Tuzovic L et al.
Fetal Diagnosis and Therapy, 2015
The usefulness of whole-exome sequencing in routine clinical practice.
Iglesias A et al.
Genetics in Medicine : Official Journal of the American College of Medical 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