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Microvillus inclusion disease

Known as: Intractable diarrhea of infancy, DIAR2, Diarrhea 2, With Microvillus Atrophy 
National Institutes of Health

Related topics

Related topics

4 relations
MYO5B, PRO660LEU

Broader (3)

Malabsorption SyndromeMicrovilliMucolipidoses

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease
ABSTRACT The intestinal epithelium is a highly organized tissue. The establishment of epithelial cell polarity, with distinct… 
2016
2016
Towards understanding microvillus inclusion disease
Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy… 
Highly Cited
2015
Highly Cited
2015
Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3
The motor protein Myo5B and t-SNARE Stx3 drive cargo-selective apical exocytosis in polarized epithelial cells in a pathway… 
Highly Cited
2014
Highly Cited
2014
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Microvillus inclusion disease (MVID) is a disorder of intestinal epithelial differentiation characterized by life-threatening… 
Highly Cited
2014
Highly Cited
2014
Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.
Microvillus inclusion disease (MVID) is a severe form of congenital diarrhea that arises from inactivating mutations in the gene… 
Review
2013
Review
2013
An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations
Microvillus inclusion disease (MVID) is one of the most severe congenital intestinal disorders and is characterized by neonatal… 
Highly Cited
2010
Highly Cited
2010
Loss‐of‐function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo‐2 RNAi cell model
Autosomal recessive microvillus inclusion disease (MVID) is characterized by an intractable diarrhea starting within the first… 
Highly Cited
2008
Highly Cited
2008
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb… 
Highly Cited
2000
Highly Cited
2000
Microvillus Inclusion Disease: A Genetic Defect Affecting Apical Membrane Protein Traffic in Intestinal Epithelium
The striking similarities between microvillus inclusions (MIs) in enterocytes in microvillus inclusion disease (MID) and vacuolar… 
1988
1988
Microvillus inclusion disease: specific diagnostic features shown by alkaline phosphatase histochemistry.
  • B. Lake
  • Journal of clinical pathology
  • 1988
  • Corpus ID: 32752962
A technique using alkaline phosphatase histochemistry on routine sections of four jejunal biopsy specimens and one necropsy… 
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