Associated Papers
Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.
Wolfson S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
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
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
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
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
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z et al.
Kidney International Reports, 2023
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Viti F et al.
Digestive Diseases and Sciences, 2023
Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction.
Hashmi SK et al.
Stem Cell Research, 2023
Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function.
Hashmi SK et al.
Stem Cell Research, 2023
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
Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction.
Bianco F et al.
Biomolecules, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis.
Hahn JW et al.
Journal of Neurogastroenterology and Motility, 2022
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
Hashmi SK et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
Matera I et al.
Clinical Genetics, 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
Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.
Altamimi E et al.
The Application of Clinical Genetics, 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
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
Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients.
Lu W et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
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
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