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

Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation.

Pediatric surgery international - 25 May 2026

Salehi Karlslätt Karin, Pettersson Maria, Lagerstedt-Robinson Kristina, Ullberg Ulla, Lindstrand Anna, Nordenskjöld Agneta

Abstract excerpt

PURPOSE: This study aimed to identify genetic variants contributing to the development of early-diagnosed isolated intestinal malrotation. METHODS: We conducted Genome sequencing on ten young children diagnosed with midgut volvulus due to intestinal malrotation who presented no other malformations or comorbidities. Our analysis focused on a panel of 442 genes previously associated with intestinal development,...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Proteins

Share to rho-Associated Kinases

Share to Signal Transduction

Source

Open in PubMed Open full text

Identifiers

PMID: 42185554
DOI: 10.1007/s00383-026-06442-2
PMCID: PMC13201279

Genes

LIMK2
ROCK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation.PMID 42185554Read ↗

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotationSemantic proximity Read ↗

Review of genetic factors in intestinal malrotation.Semantic proximity Read ↗

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

Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome.Semantic proximity Read ↗

Pediatric intestinal pseudo-obstruction in hypoparathyroidism-retardation-dysmorphism syndromeSemantic proximity Read ↗

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.Semantic proximity Read ↗

Congenital anomalies of the tubular gastrointestinal tractSemantic proximity Read ↗

In Silico Analyses Reveal the Relationship Between ROCK2 Mutations and Laterality DefectsSemantic proximity Read ↗

Recessive mutations in CAKUT and VACTERL association.Semantic proximity Read ↗

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.Semantic proximity Read ↗

Exome sequencing identifies mutations in the gene <i>TTC7A</i> in French-Canadian cases with hereditary multiple intestinal atresiaSemantic proximity Read ↗

Distinct heterozygous <i>TTC7A</i> missense variants lead to different intestinal epithelial phenotypes in pediatric IBDSemantic proximity Read ↗

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