An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
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The role of enterocyte defects in the pathogenesis of congenital diarrheal disordersMyosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.Myo5b knockout mice as a model of microvillus inclusion disease.The zebrafish goosepimples/myosin Vb mutant exhibits cellular attributes of human microvillus inclusion disease.An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral traffickingCargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3.Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.Malignant pheochromocytomas/paragangliomas harbor mutations in transport and cell adhesion genes.Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.Plasticity of the brush border - the yin and yang of intestinal homeostasis.Disruption of Rab8a and Rab11a causes formation of basolateral microvilli in neonatal enteropathy.Role of Polarity Proteins in the Generation and Organization of Apical Surface Protrusions.MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.Towards understanding microvillus inclusion disease.Identification of intestinal ion transport defects in microvillus inclusion disease.MOLGENIS/OMX for multi-omics and personalized medicine.Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease.Trafficking Ion Transporters to the Apical Membrane of Polarized Intestinal Enterocytes.MYO5B, STX3 and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.Loss of Myosin Vb in colorectal cancer is a strong prognostic factor for disease recurrence.Kinetic signatures of myosin-5B, the motor involved in microvillus inclusion disease.Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease.Congenital Fatal Diarrhea in Newborns.
P2860
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P2860
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
An overview and online registr ...... nts and their MYO5B mutations.
@en
type
label
An overview and online registr ...... nts and their MYO5B mutations.
@en
prefLabel
An overview and online registr ...... nts and their MYO5B mutations.
@en
P2093
P2860
P50
P356
P1433
P1476
An overview and online registr ...... ents and their MYO5B mutations
@en
P2093
Anne Houdusse
Edmond H H M Rings
K Joeri van der Velde
Morris A Swertz
Petra C Vinke
Serena Sirigu
Sven C D van Ijzendoorn
Trebor Rengaw
P2860
P304
P356
10.1002/HUMU.22440
P577
2013-10-16T00:00:00Z