ArticleMolecular and cellular pediatrics2016
Towards understanding microvillus inclusion disease.
Article in Molecular and cellular pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 37 citations in OpenAlex.
- iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis.Hepatology communications · 2025Article
- Paediatric Congenital Enteropathies: Clinical and Histological Review.Diagnostics (Basel, Switzerland) · 2025Review
- CODE Think! Rare Mutations ofJournal of pediatric genetics · 2023Article
- [Ultrastructure of pathologic deposits and cellular inclusions].Pathologie (Heidelberg, Germany) · 2023Review
- Microvillus Inclusion Disease: A Rare Mutation of STX3 in Exon 9 Causing Fatal Congenital Diarrheal Disease.Journal of pediatric genetics · 2022Article
- Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.Human genetics · 2021Article
- MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis.Journal of pediatric gastroenterology and nutrition · 2021Article
- Congenital diarrhea in a newborn infant: A case report.World journal of clinical pediatrics · 2019Article
- A V0-ATPase-dependent apical trafficking pathway maintains the polarity of the intestinal absorptive membrane.Development (Cambridge, England) · 2019Article
- Early Diagnosis and Management of Aggressive Posterior Vitreoretinopathy Presenting in Premature Neonates.Ophthalmic surgery, lasers & imaging retina · 2019Observational
- Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease.F1000Research · 2019Review
- Engineered Glycocalyx Regulates Stem Cell Proliferation in Murine Crypt Organoids.Cell chemical biology · 2018Article
- Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation inCellular and molecular gastroenterology and hepatology · 2018Article
- Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease.Traffic (Copenhagen, Denmark) · 2017Article
- Molecular biology of the gut.Molecular and cellular pediatrics · 2016Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. Transmission electron microscopy demonstrates shortening or absence of apical microvilli, pathognomonic microvillus inclusions in mature enterocytes and subapical accumulation of periodic acid-Schiff-positive granules or vesicles confirming diagnosis. Mutations in MYO5B have been found to cause MVID. In two patients with MVID, whole-exome sequencing of DNA revealed homozygous truncating mutations in STX3. Mutations in these genes disrupt trafficking between apical cargo vesicles and the apical plasma membrane. Thus, disturbed delivery of certain brush border membrane proteins is a common defect in MVID.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.