BACKGROUND Mutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts. However, the mutational spectrum of PKHD1 and the phenotype-genotype correlations have not yet been fully established. METHODS Whole exome sequencing (WES) was performed on one twin sample with Caroli disease from a Chinese fam...

An in situ cell marker system has been developed which allows identification of Mus caroli and Mus musculus cells in interspecific chimaeras. A radioactively labelled, cloned DNA probe to M. musculus satellite DNA was hybridized in situ to sections of M. musculus and M. caroli adult tissues. Autoradiography revealed high levels of hybridization to the nuclei of M. musculus cells, but little or ...

Treatment of a cell line derived from the Asian feral mouse Mus caroli with 5-bromodeoxyuridine induces an infectious, xentropic type C virus. This virus shares strongly cross-reactive reverse transcriptase (RNA-dependent DNA polymerase) and p30 antigens and crossinterferes with type C viruses isolated from a woolly monkey (SSAV) and gibbon apes (GALV). By similar criteria, the caroli virus is ...

Caroli disease is a rare congenital disorder characterized by nonobstructive dilatation of intrahepatic ducts. In cases with symptomatic intrahepatic manifestations, treatment should correspond to the type with hepatic resection for localized disease and transplantation for diffuse forms. If possible, complete resection of the cysts can cure the symptoms and avoid the risk of malignancy. A 66-y...

Detailed analysis of mosaicism in interspecific chimaeras between Mus musculus and Mus caroli revealed that cells of the two species could coexist and interact normally in all tissues studied. No selection occurred against M. caroli cells during gestation of chimaeras in the M. musculus uterus, but some tissue-specific differential growth of M. musculus and M. caroli cells occurred during postn...

background caroli disease is a rare inherited disorder characterized by dilatation of the intrahepatic bile ducts. the presented case is a female middle age patient that during clinical and para-clinical evaluation for an unrelated compliant found that has caroli disease. although, the disease is hereditary but the family history was negative. after three years follow up, no involvement of kidn...

Caroli disease is a rare autosomal recessive disorder characterized by multiple segmental communicating dilatations of the intrahepatic bile ducts affecting all or part of the liver that is often associated with renal disorders. It occurs in 2 forms: the rare isolated variety (type I) characterized by recurrent episodes of cholangitis and absence of periportal fibrosis and the more common varie...