Associated Papers
MYO5B Deficiency-Associated Cholestasis and the Role of the Bile Salt Export Pump.
Zhou Z et al.
Cells, 2026
Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT: 31 Pediatric Patients and 16 Novel Variants.
Elkoofy NM et al.
Clinical Genetics, 2026
Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function.
Bowman DM et al.
The Journal of Biological Chemistry, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s001.xlsx › Feuil2
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.pdf
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
Matarazzo L et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D et al.
Journal of Clinical Medicine, 2021
MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis.
Jarasvaraparn C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Mutations in Myosin 5B in Children With Early-onset Cholestasis.
Cockar I et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
Gonzales E et al.
Hepatology (baltimore, Md.), 2017
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