Associated Papers
Myosin VB is critical for progenitor cell identity and function in the intestine.
Burman A et al.
Stem Cell Reports, 2026
Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function.
Bowman DM et al.
The Journal of Biological Chemistry, 2025
Alterations in cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation.
Momoh M et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2024
Altered cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation.
Momoh M et al.
Biorxiv : the Preprint Server for Biology, 2024
Modeling the cell biology of monogenetic intestinal epithelial disorders.
Kaji I et al.
The Journal of Cell Biology, 2024
Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.
Sun M et al.
Cellular and Molecular Gastroenterology and Hepatology, 2024
Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease.
Kalashyan M et al.
The Journal of Clinical Investigation, 2023
Therapy Development for Microvillus Inclusion Disease using Patient-derived Enteroids.
Kalashyan M et al.
Biorxiv : the Preprint Server for Biology, 2023
Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis.
Burman A et al.
Cellular and Molecular Gastroenterology and Hepatology, 2023
MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
Wang L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level.
Bowman DM et al.
Cellular and Molecular Gastroenterology and Hepatology, 2022
A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators.
Li Q et al.
Biology, 2021
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D et al.
Journal of Clinical Medicine, 2021
Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis.
van IJzendoorn SCD et al.
Hepatology (baltimore, Md.), 2020
A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.
Overeem AW et al.
Hepatology (baltimore, Md.), 2020
Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters.
Engevik AC et al.
Gastroenterology, 2020
The challenge of personalized cell biology: The example of microvillus inclusion disease.
Goldenring JR
Traffic (copenhagen, Denmark), 2020
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease.
Jayawardena D et al.
F1000research, 2019
Loss of MYO5B Leads to Reductions in Na+ Absorption With Maintenance of CFTR-Dependent Cl- Secretion in Enterocytes.
Engevik AC et al.
Gastroenterology, 2018
Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.
Comegna M et al.
Clinical Case Reports, 2018
Advances in Evaluation of Chronic Diarrhea in Infants.
Thiagarajah JR et al.
Gastroenterology, 2018
Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease.
Schlegel C et al.
Digestive Diseases and Sciences, 2018
Trafficking Ion Transporters to the Apical Membrane of Polarized Intestinal Enterocytes.
Engevik AC et al.
Cold Spring Harbor Perspectives in Biology, 2018
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
Loss of MYO5B in mice recapitulates Microvillus Inclusion Disease and reveals an apical trafficking pathway distinct to neonatal duodenum.
Weis VG et al.
Cellular and Molecular Gastroenterology and Hepatology, 2016
Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.
Mitra AK et al.
Frontiers in Genetics, 2016
Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.
Knowles BC et al.
The Journal of Clinical Investigation, 2014
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
van der Velde KJ et al.
Human Mutation, 2013
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.
Szperl AM et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Autosomal recessive diseases among the Athabaskans of the southwestern United States: recent advances and implications for the future.
Erickson RP
American Journal of Medical Genetics. Part A, 2009
Navajo microvillous inclusion disease is due to a mutation in MYO5B.
Erickson RP et al.
American Journal of Medical Genetics. Part A, 2008