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The polycystin complex (PKD1 and PKD2 encoding polycystin-1 and polycystin-2, respectively) is implicated in the regulation of the cell cycle and holds the key in the pathogenesis of ADPKD.
Witzgall, "The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton," Proceedings of the National Academy of Sciences of the United States of America, vol.
University of London and Kingston University London used a simple, single-celled amoeba to identify that naringenin regulates the PKD2 protein responsible for polycystic kidney disease and as a result, blocks formation of cysts.
The team of scientists from Royal Holloway University, St George's, University of London and Kingston University London used a simple, single-celled amoeba to identify that naringenin regulates the PKD2 protein responsible for polycystic kidney disease and as a result, blocks formation of cysts.
PKD1 and PKD2 genes that are mutated in Polycystic Kidney Disease (PKD) are likely to play a role in vessel biology and their dysfunction lead to aneurysm formation.
At least there are descriptions of 3 genetic variants of the disease;4 85% of cases (PKD1) are due to an abnormality at chromosome 16q13.3, while 15% (PKD2) are due to an abnormality at chromosome 4q21-23.
Boletta et al., "PKD1 induces p21waf1 and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2," Cell, vol.
La forma autosomica dominante la causan mutaciones en dos genes diferentes (PKD1 y PKD2).
When the genes were discovered in the 1990s, they were named for the disease: PKD1 and PKD2. But no one knew what role their protein products played.
Linkage analysis excludes the involvement of the canine PKD2 homologue in bull terrier polycystic kidney disease.
Within this region, there are only four known human genes: IBSP, MEPE, OPN and PKD2 (Http://genome.ucsc.edu).
A lot of detailed work has been done with polycystins 1 and 2 (PC-1, PC-2) the gene products of PKD1 and PKD2 that are mutated in ADPKD.
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- PKC-delta-interacting protein kinase
- PKE protein kinase