Polycystin: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein

O Ibraghimov-Beskrovnaya… - Proceedings of the …, 1997 - National Acad Sciences
The primary structure of polycystin predicts a large integral membrane protein with multiple
cell recognition motifs, but its function remains unknown. Insight into polycystin's normal …

Distribution and developmentally regulated expression of murine polycystin

L Geng, Y Segal, A Pavlova… - American Journal …, 1997 - journals.physiology.org
PKD1, the gene that is mutated in approximately 85% of autosomal dominant polycystic
kidney disease (ADPKD) cases in humans, has recently been identified (Eur. PKD …

Biochemical characterization of bona fide polycystin-1 in vitro and in vivo

A Boletta, F Qian, LF Onuchic, A Bragonzi… - American journal of …, 2001 - Elsevier
The most common form of autosomal dominant polycystic kidney disease (PKD) results from
mutation of the PKD1 gene on chromosome 16p13. 3. The gene encodes a 14-kb …

Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex

LJ Newby, AJ Streets, Y Zhao, PC Harris… - Journal of Biological …, 2002 - ASBMB
The functions of the two proteins defective in autosomal dominant polycystic kidney disease,
polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that …

Characterization and cell distribution of polycystin, the product of autosomal dominant polycystic kidney disease gene 1

R Palsson, CP Sharma, K Kim, M McLaughlin… - Molecular …, 1996 - Springer
Background In a majority of cases, autosomal dominant polycystic kidney disease (ADPKD)
is caused by mutations within a putative open reading frame of the PKD1 gene. The …

Polycystin-1 distribution is modulated by polycystin-2 expression in mammalian cells

DH Grimm, Y Cai, V Chauvet, V Rajendran… - Journal of Biological …, 2003 - ASBMB
Mutations in PKD1 and PKD2, the genes that encode polycystin-1 and polycystin-2
respectively, account for almost all cases of autosomal dominant polycystic kidney disease …

Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene

L Foggensteiner, AP Bevan, R Thomas… - Journal of the …, 2000 - journals.lww.com
Mutations in the PKD1 and PKD2 genes account for 85 and 15% of cases of autosomal
dominant polycystic kidney disease, respectively. Polycystin-2, the product of the PKD2 …

Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.

CJ Ward, H Turley, AC Ong… - Proceedings of the …, 1996 - National Acad Sciences
Polycystic kidney disease 1 (PKD1) is the major locus of the common genetic disorder
autosomal dominant polycystic kidney disease. We have studied PKD1 mRNA, with an …

[HTML][HTML] The structure of a PKD domain from polycystin‐1: implications for polycystic kidney disease

M Bycroft, A Bateman, J Clarke, SJ Hamill… - The EMBO …, 1999 - embopress.org
Most cases of autosomal dominant polycystic kidney disease (ADPKD) are the result of
mutations in the PKD1 gene. The PKD1 gene codes for a large cell‐surface glycoprotein …

Autosomal dominant polycystic kidney disease: molecular analysis

PC Harris, CJ Ward, B Peral… - Human molecular …, 1995 - academic.oup.com
Using a positional cloning approach the major autosomal dominant polycystic kidney
disease (ADPKD) gene (PKD1) has been identified on chromosome 16: a disease …