International Microvillus Inclusion Disease Patient Registry

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International Microvillus Inclusion Disease Patient Registry

metasource: Fairsharing.org
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MVID

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Other names: MVID

The international Microvillus Inclusion Disease Patient Registry contains anonymised data on both published and unpublished MVID patients, as well as their associated MYO5B, STX3 and STXBP2 mutations and genotypes, and clinical and molecular phenotypes.

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Publications

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An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations
PMID: 24014347

metasource: Fairsharing.org
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• An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations PubMed citations: 35.

  35 articles citing: An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations

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  Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea. PMID:35706451

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  Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level. PMID:35660026

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  Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry. PMID:34815247

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  Risk and Clinical Significance of Idiopathic Preterm Birth in Microvillus Inclusion Disease. PMID:34501384

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  NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders. PMID:33567694

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  A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators. PMID:33557414

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  Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. PMID:33525641

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  Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease. PMID:33374831

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  MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression. PMID:32511227

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  Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease. PMID:31824659

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  A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations. PMID:31750554

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  Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects. PMID:31664880

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  Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene. PMID:30564347

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  Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease. PMID:29590640

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  Myosin-Driven Intracellular Transport. PMID:29496823

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  MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update. PMID:29266534

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  Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease. PMID:29218485

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  Loss of Myosin Vb in colorectal cancer is a strong prognostic factor for disease recurrence. PMID:29024942

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  [Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease]. PMID:28899465

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  Kinetic signatures of myosin-5B, the motor involved in microvillus inclusion disease. PMID:28882893

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  Congenital Fatal Diarrhea in Newborns. PMID:28842815

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  Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations. PMID:28724787

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  Disruption of Rab8a and Rab11a causes formation of basolateral microvilli in neonatal enteropathy. PMID:28596241

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  Role of Polarity Proteins in the Generation and Organization of Apical Surface Protrusions. PMID:28264821

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  Trafficking Ion Transporters to the Apical Membrane of Polarized Intestinal Enterocytes. PMID:28264818

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  The zebrafish goosepimples/myosin Vb mutant exhibits cellular attributes of human microvillus inclusion disease. PMID:27497746

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  Identification of intestinal ion transport defects in microvillus inclusion disease. PMID:27229121

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  Plasticity of the brush border - the yin and yang of intestinal homeostasis. PMID:26837713

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  Towards understanding microvillus inclusion disease. PMID:26830108

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  The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders. PMID:26747865

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  Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3. PMID:26553929

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  An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. PMID:26392529

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  Myo5b knockout mice as a model of microvillus inclusion disease. PMID:26201991

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  Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies. PMID:25782092

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  Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. PMID:24892806

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disease

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gene-disease association

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genetic disorder

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mutation

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disease gene-disease association genetic disorder mutation