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

Loss-of-Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development.

Clinical genetics - 1 Apr 2025

Chen Shanshan, Xu Juan, Xiao Yongtao, Cai Hui, Zhou Jie, Cai Wei, Wang Ying

Abstract excerpt

Coxsackie and adenovirus receptor-like membrane protein (CLMP) mutation is identified as a genetic risk factor of congenital short bowel syndrome (CSBS). However, the specific pathogenic mechanism remains unclear. This study aimed to explore the clinical manifestations, genetic characteristics, and molecular mechanisms underlying CSBS caused by CLMP mutations. Whole-exome sequencing was performed to determine the...

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 Disease Models, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Infant

Share to Intestines

Share to Loss of Function Mutation

Share to Membrane Proteins

Share to Zebrafish

Source

Identifiers

PMID: 39763071
DOI: 10.1111/cge.14678

Genes

CLMP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development.PMID 39763071Read ↗

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.Semantic proximity Read ↗

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.Semantic proximity Read ↗

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.Semantic proximity Read ↗

The IgSF Cell Adhesion Protein CLMP and Congenital Short Bowel Syndrome (CSBS)Semantic proximity Read ↗

A child with congenital short gut associated with DYNC2LI1 ciliopathy.Semantic proximity Read ↗

The genetics of monogenic intestinal epithelial disorders.Semantic proximity Read ↗

Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing.Semantic proximity Read ↗

Hirschsprung's disease.Semantic proximity Read ↗

Adult zebrafish intestine resection: a novel model of short bowel syndrome, adaptation, and intestinal stem cell regenerationSemantic proximity Read ↗

LEF1 Gene Mutation Impairs Intestinal Barrier and Causes DiarrheaSemantic proximity Read ↗

Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Semantic proximity Read ↗

Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease.Semantic proximity Read ↗

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