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
Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series.
Roquelaure B et al.
Orphanet Journal of Rare Diseases, 2025
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.
Yan W et al.
Orphanet Journal of Rare Diseases, 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
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
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