Abstract Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated
by genomic rearrangements on chromosome 16. We have used an exon linking strategy…

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of
collecting ducts and by biliary dysgenesis and is an important cause of renal-and liver-related …

Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic
kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to …

DNA methyltransferase 1 (DNMT1) is crucial for maintenance of methylation, gene
regulation and chromatin stability 1 , 2 , 3 . DNA mismatch repair, cell cycle regulation in post-mitotic …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations to PKD1 or
PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease …

Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of renal failure
and is characterized by the formation of many fluid-filled cysts in the kidneys. It is a systemic …

Autosomal recessive polycystic kidney disease (ARPKD) is an infantile form of PKD
characterized by fusiform dilation of collecting ducts and congenital hepatic fibrosis. The ARPKD …

Proteins associated with autosomal dominant and autosomal recessive polycystic kidney
disease (polycystin-1, polycystin-2, and fibrocystin) localize to various subcellular …

Exosomes are small extracellular vesicles that are thought to participate in intercellular
communication. Recent work from our laboratory suggests that, in normal and cystic liver, …

Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized
by bilateral renal cystic dysplasia, developmental defects of the central nervous system (…