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

Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit.

Gastroenterology - 1 Aug 2001

Richardson C E, Morgan J M, Jasani B, Green J T, Rhodes J, Williams G T, Lindstrom J, Wonnacott S, Thomas G A, Smith V

Abstract excerpt

BACKGROUND & AIMS: The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disease of childhood that presents early with intestinal hypoperistalsis, hydronephrosis, and hydroureters. Transgenic mice that lack the alpha3 subunit containing nicotinic acetylcholine (nAChR) have a phenotype similar to that of MMIHS. METHODS: We examined the expression of this subunit in control and MMIHS...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Colon

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Expression

Share to Immunohistochemistry

Share to In Situ Hybridization

Share to Receptors, Nicotinic

Share to RNA, Messenger

Share to Urinary Bladder

Source

Identifiers

PMID: 11487544
DOI: 10.1053/gast.2001.26320

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit.PMID 11487544Read ↗

Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor.Semantic proximity Read ↗

Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.Semantic proximity Read ↗

Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation.Semantic proximity Read ↗

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.Semantic proximity Read ↗

Megacystis-Megacolon-Intestinal Hypoperistalsis Syndrome with Intestinal Neuronal Dysplasia: Expanding the Phenotypic Spectrum.Semantic proximity Read ↗

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.Semantic proximity Read ↗

Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients.Semantic proximity Read ↗

Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder.Semantic proximity Read ↗

Myh11 haploinsufficiency recapitulates megacystis and voiding dysfunction in a mouse model of MMIHS.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 ↗

Heterozygous Actg2R257C mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.Semantic proximity Read ↗

ACTG2variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis SyndromeSemantic proximity Read ↗

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