Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. - Test2 - elhamkhani - TriplyDB

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

http://www.wikidata.org/entity/Q34617207

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Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders Structural basis of cargo recognitions for class V myosins Structural basis of myosin V Rab GTPase-dependent cargo recognition Generation of intestinal surface: an absorbing tale Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and Treatment Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment.Rab GTPase-Myo5B complexes control membrane recycling and epithelial polarization.Celiac disease: a disorder emerging from antiquity, its evolving classification and risk, and potential new treatment paradigms.Myo5b knockout mice as a model of microvillus inclusion disease.Rab11a regulates syntaxin 3 localization and microvillus assembly in enterocytes Congenital diarrheal disorders: an updated diagnostic approach.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 trafficking Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3.Diagnosis of microvillous inclusion disease: a case report and literature review with significance for oman.Loss of MYO5B in mice recapitulates Microvillus Inclusion Disease and reveals an apical trafficking pathway distinct to neonatal duodenum.Molecular motors and apical CFTR traffic in epithelia.Update on small intestinal stem cells.An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.Organization and execution of the epithelial polarity programme.Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.Disruption of Rab8a and Rab11a causes formation of basolateral microvilli in neonatal enteropathy.Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells.Towards understanding microvillus inclusion disease.Identification of intestinal ion transport defects in microvillus inclusion disease.The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease.Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with 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.Multilabel immunofluorescence and antigen reprobing on formalin-fixed paraffin-embedded sections: novel applications for precision pathology diagnosis.Myosins: Domain Organisation, Motor Properties, Physiological Roles and Cellular Functions.Advances in Evaluation of Chronic Diarrhea in Infants.Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease.

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P2860

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

http://www.wikidata.org/entity/Q34617207

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2010 nî lūn-bûn

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2010 թվականի մայիսին հրատարակված գիտական հոդված

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2010年の論文

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Loss-of-function of MYO5B is t ...... and a CaCo-2 RNAi cell model.

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Cornelia E Thöni

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Myosin vb is associated with plasma membrane recycling systems

The intracellular lumen: origin, role and implications of a cytoplasmic neostructure.

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