Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.
Nijmegen, Netherlands. In J Clin Lab Anal, Oct 2015
Routine molecular testing using Sanger sequencing identifies pathogenic variants in the PRKCSH (15%) and SEC63 (where SEC63 is Saccharomyces cerevisiae homolog 63 (MIM*608648); 6%) genes, but about approximately 80% of patients meeting the clinical ADPLD criteria carry no PRKCSH or SEC63 mutation.
Identification of Biomarkers Associated With Alzheimer's Disease by Bioinformatics Analysis.
Jinan, China. In Am J Alzheimers Dis Other Demen, Jul 2015
The target genes SEC22 vesicle trafficking protein homolog B (SEC22B) and SEC63 homolog (SEC63) regulated by miRNA-206, RAB10, member RAS oncogene family (RAB10) regulated by miRNA-655, and fms-related tyrosine kinase 1 (FLT1) regulated by miRNA-30e-3p and miRNA-369-3p were involved in the biological processes of protein transport and regulation of cell motion.
Polycystic liver disease: ductal plate malformation and the primary cilium.
Nijmegen, Netherlands. In Trends Mol Med, 2014
Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63.
Management of polycystic liver disease.
Denver, United States. In Curr Gastroenterol Rep, 2005
Mutations in two distinct genes predispose to renal and liver cysts (PKD1 and PKD2), and mutations in two different genes yield isolated liver cysts (PRKCSH and SEC63).
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
New Haven, United States. In Nat Genet, 2004
Mutations in SEC63 cause autosomal dominant polycystic liver disease, suggesting a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicating noncilial ER proteins in human polycystic disease.