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
32583448 (PubMed )
Supplement: HEP-72-1461-s001.pdf
Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.
Comegna M et al.
Clinical Case Reports, 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
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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