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

A lmod1a mutation causes megacystis microcolon intestinal hypoperistalsis in a CRISPR/Cas9-modified zebrafish model.

Pediatric surgery international - 14 Aug 2024

Kalim Alvin Santoso, Nagata Kouji, Toriigahara Yukihiro, Shirai Takeshi, Kirino Kosuke, Xiu-Ying Zhang, Kondo Takuya, Kawakubo Naonori, Miyata Junko, Matsuura Toshiharu, Tajiri Tatsuro

Abstract excerpt

PURPOSE: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is defined as a congenital visceral myopathy with genetic mutations. However, the etiology and pathophysiology are not fully understood. We aimed to generate a gene leiomodin-1a (lmod1a) modification technique to establish a zebrafish model of MMIHS. METHODS: We targeted lmod1a in zebrafish using CRISPR/Cas9. After confirming the genotype,...

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 CRISPR-Cas Systems

Share to Intestinal Pseudo-Obstruction

Share to Muscle Proteins

Share to Urinary Bladder

Share to Zebrafish

Share to Zebrafish Proteins

Source

Identifiers

PMID: 39143337
DOI: 10.1007/s00383-024-05809-7

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

A lmod1a mutation causes megacystis microcolon intestinal hypoperistalsis in a CRISPR/Cas9-modified zebrafish model.PMID 39143337Read ↗

A lmod1a mutation causes megacystis microcolon intestinal hypoperistalsis in a CRISPR/Cas9-modified zebrafish modelSemantic proximity Read ↗

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceSemantic proximity Read ↗

Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.Semantic proximity Read ↗

Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.Semantic proximity Read ↗

Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.Semantic proximity Read ↗

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.Semantic proximity Read ↗

Heterozygous Actg2R257C mice mimic the phenotype of 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 ↗

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.Semantic proximity Read ↗

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese familySemantic proximity Read ↗

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

A genetic model of congenital intestinal atresia implicates Mypt1 in epithelial organisation.Semantic proximity Read ↗

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