Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.

Journal of pediatric gastroenterology and nutrition - 1 Oct 2017

Milunsky Aubrey, Baldwin Clinton, Zhang Xiaoying, Primack Daniel, Curnow Adrian, Milunsky Jeff

Abstract excerpt

OBJECTIVES: The diagnosis of chronic intestinal pseudo-obstruction has depended on clinical features, manometry, and imaging. This report aimed to determine the efficacy of sequencing the actin γ-2 (ACTG2) gene for diagnosis. In addition, the goal was to determine how often a mutation would be found in our randomly collected cohort of probands and those probands published previously. METHODS: Whole exome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actins
Share to Chronic Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Duodenum

Share to Exome Sequencing

Share to Fetal Diseases

Share to Infant, Newborn

Share to Intestinal Pseudo-Obstruction

Share to Urinary Bladder

Source

Open in PubMed Open full text

Identifiers

PMID: 28422808
DOI: 10.1097/MPG.0000000000001608
PMCID: PMC5610062

Genes

ACTG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.PMID 28422808Read ↗

Expanding the genotypic spectrum of ACTG2-related visceral myopathy.Semantic proximity Read ↗

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.Semantic proximity Read ↗

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.Semantic proximity Read ↗

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.Semantic proximity Read ↗

Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients.Semantic proximity Read ↗

Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.Semantic proximity Read ↗

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.Semantic proximity Read ↗

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.Semantic proximity Read ↗

The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.Semantic proximity Read ↗

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.Semantic proximity Read ↗

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.Semantic proximity Read ↗

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.