Associated Papers
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
Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.
Comegna M et al.
Clinical Case Reports, 2018
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS et al.
Human Mutation, 2018
Loss of Myosin Vb in colorectal cancer is a strong prognostic factor for disease recurrence.
Letellier E et al.
British Journal of Cancer, 2017
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
Identification of intestinal ion transport defects in microvillus inclusion disease.
Kravtsov DV et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2016
Myo5b knockout mice as a model of microvillus inclusion disease.
Cartón-García F et al.
Scientific Reports, 2015
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
van der Velde KJ et al.
Human Mutation, 2013
MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome.
Golachowska MR et al.
Journal of Pediatric Gastroenterology and Nutrition, 2012
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
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