Associated Papers
iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis.
Sgodda M et al.
Hepatology Communications, 2025
Not all enteropathies are coeliac disease! Report of an infant with microvillus inclusion disease.
Kozan EN et al.
Gastroenterology and Hepatology From Bed to Bench, 2023
Fetal Bowel Abnormalities Suspected by Ultrasonography in Microvillus Inclusion Disease: Prevalence and Clinical Significance.
Sun Y et al.
Journal of Clinical Medicine, 2022
35893420 (PubMed )
Supplement: jcm-11-04331-s001.zip › jcm-1723661-supplementary.pdf
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
KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
Stalke A et al.
The Journal of Pediatrics, 2022
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
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
Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease.
Vogel GF et al.
Traffic (copenhagen, Denmark), 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
Towards understanding microvillus inclusion disease.
Vogel GF et al.
Molecular and Cellular Pediatrics, 2016
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Müller T et al.
Nature Genetics, 2008
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