Lia Spruit

TL;DR: Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene, and its protein product, tuberin, has a region of homology to the GTPase-activating protein GAP3.

TL;DR: Partial sequence analysis of the PKD1 transcript shows that it encodes a novel protein whose function is at present unknown, and a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in thePKD1 candidate region is identified.

TL;DR: Using highly polymorphic microsatellite DNA markers, a second gene for ADPKD is assigned to chromosome 4 and in eight families with clear evidence against linkage to chromosome 16 markers, linkage analysis with the markers D4S231 andD4S423, demonstrated a multipoint lod score of 22.42.

TL;DR: In Madine Darby canine kidney (MDCK) cells, polycystin-1 was detected in the cytoplasm as well as co-localizing with desmosomes, but not with tight or adherens junctions, and the desmosomal localization was confirmed using confocal laser scanning and immunoelectron microscopy.

TL;DR: The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of Rubinstein-Taybi syndrome was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3 in approximately 25% of the patients as discussed by the authors.