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

MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report.

BMC medical genomics - 16 Jul 2024

Lou Yue, Lv Yao, Yu Jindan, Gu Weizhong, Jiang Ming, Chen Jie

Abstract excerpt

BACKGROUND: With recent advances in gene sequencing technology, more than 60 genetic mutations associated with very early onset inflammatory bowel disease (VEO-IBD) have been reported. Most of the genes are associated with immune deficiencies. The Myosin 5B (MYO5B) gene is primarily involved in cell motility and material transport which is associated with congenital intractable diarrhea and cholestasis. No...

Topics

Join the communities discussing this publication.

Age of Onset
Celiac Disease Research and Management
Exome Sequencing
Infant
Inflammatory Bowel Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myosin Heavy Chains

Source

Open in PubMed Open full text

Identifiers

PMID: 39014344
DOI: 10.1186/s12920-024-01962-z
PMCID: PMC11250955

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report.PMID 39014344Read ↗

MYO5B and the Polygenic Landscape of Very Early-Onset Inflammatory Bowel Disease in an Ethnically Diverse Population.Semantic proximity Read ↗

The Growing Need to Understand Very Early Onset Inflammatory Bowel Disease.Semantic proximity Read ↗

Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.Semantic proximity Read ↗

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.Semantic proximity Read ↗

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.Semantic proximity Read ↗

Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities.Semantic proximity Read ↗

Evaluation of very early-onset inflammatory bowel disease.Semantic proximity Read ↗

MYO5B Novel Homozygous Variant c.2090+3A>T Causes Intron Retention and is Related To Severe Cholestasis and Intractable DiarrheaSemantic proximity Read ↗

Understanding endoscopic and clinicopathological features of patients with very early onset inflammatory bowel disease: Results from a decade of study.Semantic proximity Read ↗

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.Semantic proximity Read ↗

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B MutationsSemantic proximity Read ↗

Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.Semantic proximity Read ↗

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