A novel missense mutation in the proprotein convertase gene furinb causes hepatic cystogenesis during liver development in zebrafish

• Published in: bioRxiv
• Main Authors: Ellis, Jillian L, Evason, Kimberley J, Zhang, Changwen, Fourman, Makenzie N, Liu, Jiandong, Ninov, Nikolay, Delous, Marion, Vanhollebeke, Benoit, Fiddes, Ian T, Otis, Jessica P, Houvras, Yariv, Farber, Steve A, Xu, Xiaolei, Lin, Xueying, Stainier, Didier Yr, Yin, Chunyue
• Format: Paper
• Language: English
• Published: Cold Spring Harbor Cold Spring Harbor Laboratory Press 26.02.2022
• Subjects: Actin; Animal models; Bile ducts; Cell proliferation; Cholangiocarcinoma; Cilia; Cirrhosis; Cysts; Cytoskeleton; Danio rerio; Endoplasmic reticulum; Fibrosis; Genetic screening; Genomes; Liver; Localization; Missense mutation; Morbidity; Mutants; Mutation; Phenotypes; Phenylbutyric acid; Proprotein convertases; Rapamycin; TOR protein; Tunicamycin; Zebrafish

Hepatic cysts are fluid-filled lesions in the liver that are estimated to occur in 5% of the population. They may cause hepatomegaly and abdominal pain. Progression to secondary fibrosis, cirrhosis, or cholangiocarcinoma can lead to morbidity and mortality. Previous studies of patients and rodent mo...