Associated Papers
MYO5B Deficiency-Associated Cholestasis and the Role of the Bile Salt Export Pump.
Zhou Z et al.
Cells, 2026
41511375 (PubMed )
Supplement: cells-15-00092-s001.zip › cells-4027592-supplementary › PFIC10_supplemental_final_TableS1_R.xlsx › Sheet1
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
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D et al.
Journal of Clinical Medicine, 2021
Mutations in Myosin 5B in Children With Early-onset Cholestasis.
Cockar I et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.
Overeem AW 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
29266534 (PubMed )
Supplement: HUMU-39-333-s002.docx
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
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 cause microvillus inclusion disease and disrupt epithelial cell polarity.
Müller T et al.
Nature Genetics, 2008
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