Gene Review:
PKD1 - polycystic kidney disease 1 (autosomal...
Homo sapiens
Synonyms:
Autosomal dominant polycystic kidney disease 1 protein, PBP, Pc-1, Polycystin-1, TRPP1
Sandford,
Burrow,
Wilson,
McFann,
Kugoh,
Harris,
Taylor,
Rinkel,
Biddolph,
Reed,
Arlene B. Chapman,
Lu,
Spiegel,
Schrier,
Klemm,
Watnick,
Delmas,
Kariuki,
Landes,
Everitt,
San Millán,
Pérez-Oller,
Grantham,
Sgotto,
Winterpacht,
Chissoe,
Butler,
Fain,
Buskens,
Laass,
Harris,
Brenner,
Zabel,
Soto,
Hahn,
Wilson,
Tison,
Chothia,
Spangenberg,
Badenas,
Jauch,
Huebner,
Vaudin,
Torra,
Harris,
Kiguchi,
Hyink,
Zhou,
Ruigrok,
Enklaar,
Ward,
Aparicio,
Gärtner,
Torra,
Harris,
Pei,
Xu,
Ibraghimov-Beskrovnaya,
Zhou,
Bartsch,
Prawitt,
Pelletier,
Estivill,
Higgins,
Darnell,
Wilson,
Germino,
Walker,
Hughes,
Bateman,
Pepin,
Amsler,
Johnson,
Kleymenova,
Vogelberg,
Rupprecht,
Calvet,
Nauli,
Bowker,
Li,
Ong,
Loghman-Adham,
- Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Brook-Carter, P.T., Peral, B., Ward, C.J., Thompson, P., Hughes, J., Maheshwar, M.M., Nellist, M., Gamble, V., Harris, P.C., Sampson, J.R. Nat. Genet. (1994)
- The polycystin-1 C-terminal fragment triggers branching morphogenesis and migration of tubular kidney epithelial cells. Nickel, C., Benzing, T., Sellin, L., Gerke, P., Karihaloo, A., Liu, Z.X., Cantley, L.G., Walz, G. J. Clin. Invest. (2002)
- Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. Nomura, H., Turco, A.E., Pei, Y., Kalaydjieva, L., Schiavello, T., Weremowicz, S., Ji, W., Morton, C.C., Meisler, M., Reeders, S.T., Zhou, J. J. Biol. Chem. (1998)
- Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue. Ong, A.C., Ward, C.J., Butler, R.J., Biddolph, S., Bowker, C., Torra, R., Pei, Y., Harris, P.C. Am. J. Pathol. (1999)
- Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. Magistroni, R., He, N., Wang, K., Andrew, R., Johnson, A., Gabow, P., Dicks, E., Parfrey, P., Torra, R., San-Millan, J.L., Coto, E., Van Dijk, M., Breuning, M., Peters, D., Bogdanova, N., Ligabue, G., Albertazzi, A., Hateboer, N., Demetriou, K., Pierides, A., Deltas, C., St George-Hyslop, P., Ravine, D., Pei, Y. J. Am. Soc. Nephrol. (2003)
- Autosomal dominant polycystic kidney disease: time for a change? Chapman, A.B. J. Am. Soc. Nephrol. (2007)
- Is there evidence for anticipation in autosomal-dominant polycystic kidney disease? Fick, G.M., Johnson, A.M., Gabow, P.A. Kidney Int. (1994)
- Effect of enalapril on blood pressure, renal function, and the renin-angiotensin-aldosterone system in cats with autosomal dominant polycystic kidney disease. Miller, R.H., Lehmkuhl, L.B., Smeak, D.D., DiBartola, S.P., Radin, J. Am. J. Vet. Res. (1999)
- Right not to know or duty to know? Prenatal screening for polycystic renal disease. Kielstein, R., Sass, H.M. The Journal of medicine and philosophy. (1992)
- Attributable risk of common and rare determinants of subarachnoid hemorrhage. Ruigrok, Y.M., Buskens, E., Rinkel, G.J. Stroke (2001)
- Epithelial transport in polycystic kidney disease. Sullivan, L.P., Wallace, D.P., Grantham, J.J. Physiol. Rev. (1998)
- Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. Watnick, T., He, N., Wang, K., Liang, Y., Parfrey, P., Hefferton, D., St George-Hyslop, P., Germino, G., Pei, Y. Nat. Genet. (2000)
- Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Wu, G., Markowitz, G.S., Li, L., D'Agati, V.D., Factor, S.M., Geng, L., Tibara, S., Tuchman, J., Cai, Y., Park, J.H., van Adelsberg, J., Hou, H., Kucherlapati, R., Edelmann, W., Somlo, S. Nat. Genet. (2000)
- Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. Sandford, R., Sgotto, B., Aparicio, S., Brenner, S., Vaudin, M., Wilson, R.K., Chissoe, S., Pepin, K., Bateman, A., Chothia, C., Hughes, J., Harris, P. Hum. Mol. Genet. (1997)
- Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression. Prawitt, D., Enklaar, T., Klemm, G., Gärtner, B., Spangenberg, C., Winterpacht, A., Higgins, M., Pelletier, J., Zabel, B. Hum. Mol. Genet. (2000)
- Modifier genes play a significant role in the phenotypic expression of PKD1. Fain, P.R., McFann, K.K., Taylor, M.R., Tison, M., Johnson, A.M., Reed, B., Schrier, R.W. Kidney Int. (2005)
- Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease. Baboolal, K., Ravine, D., Daniels, J., Williams, N., Holmans, P., Coles, G.A., Williams, J.D. Kidney Int. (1997)
- Proliferative activity of cyst epithelium in human renal cystic diseases. Nadasdy, T., Laszik, Z., Lajoie, G., Blick, K.E., Wheeler, D.E., Silva, F.G. J. Am. Soc. Nephrol. (1995)
- A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans. Barr, M.M., Sternberg, P.W. Nature (1999)
- Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Pei, Y., Paterson, A.D., Wang, K.R., He, N., Hefferton, D., Watnick, T., Germino, G.G., Parfrey, P., Somlo, S., St George-Hyslop, P. Am. J. Hum. Genet. (2001)
- A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. Torra, R., Badenas, C., San Millán, J.L., Pérez-Oller, L., Estivill, X., Darnell, A. Am. J. Hum. Genet. (1999)
- A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Pritchard, L., Sloane-Stanley, J.A., Sharpe, J.A., Aspinwall, R., Lu, W., Buckle, V., Strmecki, L., Walker, D., Ward, C.J., Alpers, C.E., Zhou, J., Wood, W.G., Harris, P.C. Hum. Mol. Genet. (2000)
- The mouse homologue of the polycystic kidney disease gene (Pkd1) is a single-copy gene. Olsson, P.G., Löhning, C., Horsley, S., Kearney, L., Harris, P.C., Frischauf, A. Genomics (1996)
- Polycystins: polymodal receptor/ion-channel cellular sensors. Delmas, P. Pflugers Arch. (2005)
- Molecular basis of autosomal dominant polycystic kidney disease. Al-Bhalal, L., Akhtar, M. Advances in anatomic pathology. (2005)
- Type identification of autosomal dominant polycystic kidney disease by analysis of fluorescent short tandem repeat markers. Lin, W.D., Wu, J.Y., Tsai, F.J., Gau, M.T., Lee, C.C. J. Formos. Med. Assoc. (2002)
- Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. Chauvet, V., Qian, F., Boute, N., Cai, Y., Phakdeekitacharoen, B., Onuchic, L.F., Attié-Bitach, T., Guicharnaud, L., Devuyst, O., Germino, G.G., Gubler, M.C. Am. J. Pathol. (2002)
- Molecular basis of autosomal dominant polycystic kidney disease. Watnick, T., Germino, G.G. Semin. Nephrol. (1999)
- Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene. Kleymenova, E., Ibraghimov-Beskrovnaya, O., Kugoh, H., Everitt, J., Xu, H., Kiguchi, K., Landes, G., Harris, P., Walker, C. Mol. Cell (2001)
- The genetics and physiology of polycystic kidney disease. Calvet, J.P., Grantham, J.J. Semin. Nephrol. (2001)
- Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1. Koptides, M., Constantinides, R., Kyriakides, G., Hadjigavriel, M., Patsalis, P.C., Pierides, A., Deltas, C.C. Hum. Genet. (1998)
- Specific association of the gene product of PKD2 with the TRPC1 channel. Tsiokas, L., Arnould, T., Zhu, C., Kim, E., Walz, G., Sukhatme, V.P. Proc. Natl. Acad. Sci. U.S.A. (1999)
- Inhibition of HER-2(neu/ErbB2) restores normal function and structure to polycystic kidney disease (PKD) epithelia. Wilson, S.J., Amsler, K., Hyink, D.P., Li, X., Lu, W., Zhou, J., Burrow, C.R., Wilson, P.D. Biochim. Biophys. Acta (2006)
- Tuberous sclerosis complex and early-onset autosomal dominant polycystic kidney disease as a 'contiguous gene' syndrome: report of a case. Mancino, C., Balducci, A. Contributions to nephrology. (1997)
- Coexpression of extracellular matrix glycoproteins undulin and tenascin in human autosomal dominant polycystic kidney disease. Klingel, R., Ramadori, G., Schuppan, D., Knittel, T., Meyer zum Büschenfelde, K.H., Köhler, H. Nephron (1993)
- Ouabain Binds with High Affinity to the Na,K-ATPase in Human Polycystic Kidney Cells and Induces Extracellular Signal-Regulated Kinase Activation and Cell Proliferation. Nguyen, A.N., Wallace, D.P., Blanco, G. J. Am. Soc. Nephrol. (2007)
- Regulation of cardiac stress signaling by protein kinase d1. Harrison, B.C., Kim, M.S., van Rooij, E., Plato, C.F., Papst, P.J., Vega, R.B., McAnally, J.A., Richardson, J.A., Bassel-Duby, R., Olson, E.N., McKinsey, T.A. Mol. Cell. Biol. (2006)
- E-cadherin phosphorylation by protein kinase D1/protein kinase C{mu} is associated with altered cellular aggregation and motility in prostate cancer. Jaggi, M., Rao, P.S., Smith, D.J., Wheelock, M.J., Johnson, K.R., Hemstreet, G.P., Balaji, K.C. Cancer Res. (2005)
- Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Tsiokas, L., Kim, E., Arnould, T., Sukhatme, V.P., Walz, G. Proc. Natl. Acad. Sci. U.S.A. (1997)
- Depletion of PKD1 by an antisense oligodeoxynucleotide induces premature G1/S-phase transition. Kim, H., Bae, Y., Jeong, W., Ahn, C., Kang, S. Eur. J. Hum. Genet. (2004)
- Basolateral chloride transporters in autosomal dominant polycystic kidney disease. Lebeau, C., Hanaoka, K., Moore-Hoon, M.L., Guggino, W.B., Beauwens, R., Devuyst, O. Pflugers Arch. (2002)
- Impaired formation of desmosomal junctions in ADPKD epithelia. Russo, R.J., Husson, H., Joly, D., Bukanov, N.O., Patey, N., Knebelmann, B., Ibraghimov-Beskrovnaya, O. Histochem. Cell Biol. (2005)
- Ets factors regulate the polycystic kidney disease-1 promoter. Puri, S., Rodova, M., Islam, M.R., Magenheimer, B.S., Maser, R.L., Calvet, J.P. Biochem. Biophys. Res. Commun. (2006)
- Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Hanaoka, K., Qian, F., Boletta, A., Bhunia, A.K., Piontek, K., Tsiokas, L., Sukhatme, V.P., Guggino, W.B., Germino, G.G. Nature (2000)
- Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1. Harris, P.C. Curr. Opin. Nephrol. Hypertens. (2002)
- Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Laass, M.W., Spiegel, M., Jauch, A., Hahn, G., Rupprecht, E., Vogelberg, C., Bartsch, O., Huebner, A. Pediatr. Nephrol. (2004)
- Immortalized epithelial cells from human autosomal dominant polycystic kidney cysts. Loghman-Adham, M., Nauli, S.M., Soto, C.E., Kariuki, B., Zhou, J. Am. J. Physiol. Renal Physiol. (2003)
- The polycystins: a novel class of membrane-associated proteins involved in renal cystic disease. Sandford, R., Mulroy, S., Foggensteiner, L. Cell. Mol. Life Sci. (1999)
- Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. Inoue, S., Inoue, K., Utsunomiya, M., Nozaki, J., Yamada, Y., Iwasa, T., Mori, E., Yoshinaga, T., Koizumi, A. Hum. Mutat. (2002)