Autosomal dominant polycystic kidney disease is one of the mostcommon hereditary disorders, being 10 times more common thansickle cell disease, 15 times more common than cystic fibrosis,and 20 times more common than Huntington's disease. In addition,the disease accounts for 8 to 10 percent of the cases of end-stagerenal disease, for which medical care costs exceed $200 milliona year. The name previously given to the disorder, "adult polycystickidney disease," belies its true scope by focusing on the kidneyand by confining the disorder to adults. In fact, autosomaldominant polycystic kidney disease is a . . . [Full Text of this Article]
Genetics
Pathogenesis
Epidemiology and Methods of Diagnosis
Renal Manifestations
Complications
Extrarenal Manifestations
Conclusions
Source Information
From the Department of Medicine, Box C-283, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Denver, CO 80262, where reprint requests should be addressed to Dr. Gabow.
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Alejmi, A., Sayer, J. A.
(2008). Multiple thyroid cysts as an extra-renal manifestation of ADPKD. NDT Plus
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[Full Text]
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(2008). Morphological and Functional Features of Hepatic Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease. Am. J. Pathol.
172: 321-332
[Abstract][Full Text]
Yu, S., Hackmann, K., Gao, J., He, X., Piontek, K., Garcia-Gonzalez, M. A., Menezes, L. F., Xu, H., Germino, G. G., Zuo, J., Qian, F.
(2007). Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure. Proc. Natl. Acad. Sci. USA
104: 18688-18693
[Abstract][Full Text]
Huang, K., Diener, D. R., Mitchell, A., Pazour, G. J., Witman, G. B., Rosenbaum, J. L.
(2007). Function and dynamics of PKD2 in Chlamydomonas reinhardtii flagella. J. Cell Biol.
179: 501-514
[Abstract][Full Text]
Boca, M., D'Amato, L., Distefano, G., Polishchuk, R. S., Germino, G. G., Boletta, A.
(2007). Polycystin-1 Induces Cell Migration by Regulating Phosphatidylinositol 3-kinase-dependent Cytoskeletal Rearrangements and GSK3beta-dependent Cell Cell Mechanical Adhesion. Mol. Biol. Cell
18: 4050-4061
[Abstract][Full Text]
Green, R. F.
(2007). Summary of Workgroup Meeting on Use of Family History Information in Pediatric Primary Care and Public Health. Pediatrics
120: S87-S100
[Abstract][Full Text]
Garcia-Gonzalez, M. A., Menezes, L. F., Piontek, K. B., Kaimori, J., Huso, D. L., Watnick, T., Onuchic, L. F., Guay-Woodford, L. M., Germino, G. G.
(2007). Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet
16: 1940-1950
[Abstract][Full Text]
Wei, W., Hackmann, K., Xu, H., Germino, G., Qian, F.
(2007). Characterization of cis-Autoproteolysis of Polycystin-1, the Product of Human Polycystic Kidney Disease 1 Gene. J. Biol. Chem.
282: 21729-21737
[Abstract][Full Text]
Condac, E., Silasi-Mansat, R., Kosanke, S., Schoeb, T., Towner, R., Lupu, F., Cummings, R. D., Hinsdale, M. E.
(2007). Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis. Proc. Natl. Acad. Sci. USA
104: 9416-9421
[Abstract][Full Text]
Chapman, A. B.
(2007). Autosomal Dominant Polycystic Kidney Disease: Time for a Change?. J. Am. Soc. Nephrol.
18: 1399-1407
[Abstract][Full Text]
Bernhardt, W. M., Wiesener, M. S., Weidemann, A., Schmitt, R., Weichert, W., Lechler, P., Campean, V., Ong, A. C. M., Willam, C., Gretz, N., Eckardt, K.-U.
(2007). Involvement of Hypoxia-Inducible Transcription Factors in Polycystic Kidney Disease. Am. J. Pathol.
170: 830-842
[Abstract][Full Text]
Pereira, T. V., Nunes, A. C. F., Rudnicki, M., Magistroni, R., Albertazzi, A., Pereira, A. C., Krieger, J. E.
(2006). Influence of ACE I/D gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease: a meta-analysis. Nephrol Dial Transplant
21: 3155-3163
[Abstract][Full Text]
Smith, L. A., Bukanov, N. O., Husson, H., Russo, R. J., Barry, T. C., Taylor, A. L., Beier, D. R., Ibraghimov-Beskrovnaya, O.
(2006). Development of Polycystic Kidney Disease in Juvenile Cystic Kidney Mice: Insights into Pathogenesis, Ciliary Abnormalities, and Common Features with Human Disease. J. Am. Soc. Nephrol.
17: 2821-2831
[Abstract][Full Text]
Pei, Y.
(2006). Diagnostic Approach in Autosomal Dominant Polycystic Kidney Disease. CJASN
1: 1108-1114
[Abstract][Full Text]
Antiga, L., Piccinelli, M., Fasolini, G., Ene-Iordache, B., Ondei, P., Bruno, S., Remuzzi, G., Remuzzi, A.
(2006). Computed Tomography Evaluation of Autosomal Dominant Polycystic Kidney Disease Progression: A Progress Report. CJASN
1: 754-760
[Abstract][Full Text]
Grantham, J. J., Torres, V. E., Chapman, A. B., Guay-Woodford, L. M., Bae, K. T., King, B. F. Jr., Wetzel, L. H., Baumgarten, D. A., Kenney, P. J., Harris, P. C., Klahr, S., Bennett, W. M., Hirschman, G. N., Meyers, C. M., Zhang, X., Zhu, F., Miller, J. P., the CRISP Investigators,
(2006). Volume Progression in Polycystic Kidney Disease. NEJM
354: 2122-2130
[Abstract][Full Text]
Boca, M., Distefano, G., Qian, F., Bhunia, A. K., Germino, G. G., Boletta, A.
(2006). Polycystin-1 Induces Resistance to Apoptosis through the Phosphatidylinositol 3-Kinase/Akt Signaling Pathway. J. Am. Soc. Nephrol.
17: 637-647
[Abstract][Full Text]
Lin, T.-C., Kuo, H.-L., Huang, C.-C.
(2006). Kimura's disease in a patient with idiopathic dilated cardiomyopathy on ambulatory peritoneal dialysis. Nephrol Dial Transplant
21: 555-555
[Full Text]
Erkoc, R., Sayarlioglu, H., Ceylan, K., Dogan, E., Kara, P. S.
(2006). Gas-forming infection in a renal cyst of a patient with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant
21: 555-556
[Full Text]
Grimm, D. H., Karihaloo, A., Cai, Y., Somlo, S., Cantley, L. G., Caplan, M. J.
(2006). Polycystin-2 Regulates Proliferation and Branching Morphogenesis in Kidney Epithelial Cells. J. Biol. Chem.
281: 137-144
[Abstract][Full Text]
Allen, E., Piontek, K. B., Garrett-Mayer, E., Garcia-Gonzalez, M., Gorelick, K. L., Germino, G. G.
(2006). Loss of polycystin-1 or polycystin-2 results in dysregulated apolipoprotein expression in murine tissues via alterations in nuclear hormone receptors. Hum Mol Genet
15: 11-21
[Abstract][Full Text]
Grantham, J. J., Chapman, A. B., Torres, V. E.
(2006). Volume Progression in Autosomal Dominant Polycystic Kidney Disease: The Major Factor Determining Clinical Outcomes. CJASN
1: 148-157
[Abstract][Full Text]
Zatti, A., Chauvet, V., Rajendran, V., Kimura, T., Pagel, P., Caplan, M. J.
(2005). The C-Terminal Tail of the Polycystin-1 Protein Interacts with the Na,K-ATPase {alpha}-Subunit. Mol. Biol. Cell
16: 5087-5093
[Abstract][Full Text]
Ma, R., Li, W.-P., Rundle, D., Kong, J., Akbarali, H. I., Tsiokas, L.
(2005). PKD2 Functions as an Epidermal Growth Factor-Activated Plasma Membrane Channel. Mol. Cell. Biol.
25: 8285-8298
[Abstract][Full Text]
Mrug, M., Li, R., Cui, X., Schoeb, T. R., Churchill, G. A., Guay-Woodford, L. M.
(2005). Kinesin Family Member 12 Is a Candidate Polycystic Kidney Disease Modifier in the cpk Mouse. J. Am. Soc. Nephrol.
16: 905-916
[Abstract][Full Text]
Veizis, I. E., Cotton, C. U.
(2005). Abnormal EGF-dependent regulation of sodium absorption in ARPKD collecting duct cells. Am. J. Physiol. Renal Physiol.
288: F474-F482
[Abstract][Full Text]
Montell, C.
(2005). The TRP Superfamily of Cation Channels. Sci Signal
2005: re3-re3
[Abstract][Full Text]
Murakami, M., Ohba, T., Xu, F., Shida, S., Satoh, E., Ono, K., Miyoshi, I., Watanabe, H., Ito, H., Iijima, T.
(2005). Genomic Organization and Functional Analysis of Murine PKD2L1. J. Biol. Chem.
280: 5626-5635
[Abstract][Full Text]
De Rycke, M., Georgiou, I., Sermon, K., Lissens, W., Henderix, P., Joris, H., Platteau, P., Van Steirteghem, A., Liebaers, I.
(2005). PGD for autosomal dominant polycystic kidney disease type 1. Mol Hum Reprod
11: 65-71
[Abstract][Full Text]
Puri, S., Magenheimer, B. S., Maser, R. L., Ryan, E. M., Zien, C. A., Walker, D. D., Wallace, D. P., Hempson, S. J., Calvet, J. P.
(2004). Polycystin-1 Activates the Calcineurin/NFAT (Nuclear Factor of Activated T-cells) Signaling Pathway. J. Biol. Chem.
279: 55455-55464
[Abstract][Full Text]
Lyons, L. A., Biller, D. S., Erdman, C. A., Lipinski, M. J., Young, A. E., Roe, B. A., Qin, B., Grahn, R. A.
(2004). Feline Polycystic Kidney Disease Mutation Identified in PKD1. J. Am. Soc. Nephrol.
15: 2548-2555
[Abstract][Full Text]
Cano, D. A., Murcia, N. S., Pazour, G. J., Hebrok, M.
(2004). orpk mouse model of polycystic kidney disease reveals essential role of primary cilia in pancreatic tissue organization. Development
131: 3457-3467
[Abstract][Full Text]
Babich, V., Zeng, W.-Z., Yeh, B.-I., Ibraghimov-Beskrovnaya, O., Cai, Y., Somlo, S., Huang, C.-L.
(2004). The N-terminal Extracellular Domain Is Required for Polycystin-1-dependent Channel Activity. J. Biol. Chem.
279: 25582-25589
[Abstract][Full Text]
Cantiello, H. F.
(2004). Regulation of calcium signaling by polycystin-2. Am. J. Physiol. Renal Physiol.
286: F1012-F1029
[Abstract][Full Text]
Venglarik, C. J., Gao, Z., Lu, X.
(2004). Evolutionary Conservation of Drosophila Polycystin-2 as a Calcium-Activated Cation Channel. J. Am. Soc. Nephrol.
15: 1168-1177
[Abstract][Full Text]
Gao, Z., Joseph, E., Ruden, D. M., Lu, X.
(2004). Drosophila Pkd2 Is Haploid-insufficient for Mediating Optimal Smooth Muscle Contractility. J. Biol. Chem.
279: 14225-14231
[Abstract][Full Text]
Patel, H. P., Lu, L., Blaszak, R. T., Bissler, J. J.
(2004). PKD1 intron 21: triplex DNA formation and effect on replication. Nucleic Acids Res
32: 1460-1468
[Abstract][Full Text]
Wilson, P. D.
(2004). Polycystic Kidney Disease. NEJM
350: 151-164
[Full Text]
Nunes, A., Roisenberg, I., Picolli, E., Weber, R., Satler, F., Grasselli, F., Wainberg, F., Bohn, F., Barros, E.
(2003). Adult polycystic kidney disease in patients on haemodialysis in the south of Brazil. Nephrol Dial Transplant
18: 2686-2687
[Full Text]
Guay-Woodford, L. M.
(2003). Murine models of polycystic kidney disease: molecular and therapeutic insights. Am. J. Physiol. Renal Physiol.
285: F1034-F1049
[Abstract][Full Text]
Yu, H., Pretot, R. F., Burglin, T. R., Sternberg, P. W.
(2003). Distinct roles of transcription factors EGL-46 and DAF-19 in specifying the functionality of a polycystin-expressing sensory neuron necessary for C. elegans male vulva location behavior. Development
130: 5217-5227
[Abstract][Full Text]
Grimm, D. H., Cai, Y., Chauvet, V., Rajendran, V., Zeltner, R., Geng, L., Avner, E. D., Sweeney, W., Somlo, S., Caplan, M. J.
(2003). Polycystin-1 Distribution Is Modulated by Polycystin-2 Expression in Mammalian Cells. J. Biol. Chem.
278: 36786-36793
[Abstract][Full Text]
Qian, Q., Hunter, L. W., Li, M., Marin-Padilla, M., Prakash, Y.S., Somlo, S., Harris, P. C., Torres, V. E., Sieck, G. C.
(2003). Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells. Hum Mol Genet
12: 1875-1880
[Abstract][Full Text]
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.
(2003). Genotype-Renal Function Correlation in Type 2 Autosomal Dominant Polycystic Kidney Disease. J. Am. Soc. Nephrol.
14: 1164-1174
[Abstract][Full Text]
Rohatgi, R., Greenberg, A., Burrow, C. R., Wilson, P. D., Satlin, L. M.
(2003). Na Transport in Autosomal Recessive Polycystic Kidney Disease (ARPKD) Cyst Lining Epithelial Cells. J. Am. Soc. Nephrol.
14: 827-836
[Abstract][Full Text]
Gogusev, J., Murakami, I., Doussau, M., Telvi, L., Stojkoski, A., Lesavre, P., Droz, D.
(2003). Molecular Cytogenetic Aberrations in Autosomal Dominant Polycystic Kidney Disease Tissue. J. Am. Soc. Nephrol.
14: 359-366
[Abstract][Full Text]
Cai, S., Everitt, J. I., Kugo, H., Cook, J., Kleymenova, E., Walker, C. L.
(2003). Polycystic Kidney Disease as a Result of Loss of the Tuberous Sclerosis 2 Tumor Suppressor Gene During Development. Am. J. Pathol.
162: 457-468
[Abstract][Full Text]
Lu, J., Bankovic-Calic, N., Ogborn, M., Saboorian, M. H., Aukema, H. M.
(2003). Detrimental Effects of a High Fat Diet in Early Renal Injury Are Ameliorated by Fish Oil in Han:SPRD-cy Rats. J. Nutr.
133: 180-186
[Abstract][Full Text]
Qian, F., Boletta, A., Bhunia, A. K., Xu, H., Liu, L., Ahrabi, A. K., Watnick, T. J., Zhou, F., Germino, G. G.
(2002). Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. Proc. Natl. Acad. Sci. USA
99: 16981-16986
[Abstract][Full Text]
Yoder, B. K., Hou, X., Guay-Woodford, L. M.
(2002). The Polycystic Kidney Disease Proteins, Polycystin-1, Polycystin-2, Polaris, and Cystin, Are Co-Localized in Renal Cilia. J. Am. Soc. Nephrol.
13: 2508-2516
[Abstract][Full Text]
Muto, S., Aiba, A., Saito, Y., Nakao, K., Nakamura, K., Tomita, K., Kitamura, T., Kurabayashi, M., Nagai, R., Higashihara, E., Harris, P. C., Katsuki, M., Horie, S.
(2002). Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant. Hum Mol Genet
11: 1731-1742
[Abstract][Full Text]
Alehan, F. K., Gurakan, B., Agildere, M.
(2002). Familial Arachnoid Cysts in Association With Autosomal Dominant Polycystic Kidney Disease. Pediatrics
110: e13-13
[Abstract][Full Text]
Burtey, S, Lossi, A M, Bayle, J, Berland, Y, Fontes, M
(2002). Mutation screening of the PKD1 transcript by RT-PCR. J. Med. Genet.
39: 422-429
[Full Text]
Delmas, P., Nomura, H., Li, X., Lakkis, M., Luo, Y., Segal, Y., Fernandez-Fernandez, J. M., Harris, P., Frischauf, A.-M., Brown, D. A., Zhou, J.
(2002). Constitutive Activation of G-proteins by Polycystin-1 Is Antagonized by Polycystin-2. J. Biol. Chem.
277: 11276-11283
[Abstract][Full Text]
Yoder, B. K., Tousson, A., Millican, L., Wu, J. H., Bugg, C. E. Jr., Schafer, J. A., Balkovetz, D. F.
(2002). Polaris, a protein disrupted in orpk mutant mice, is required for assembly of renal cilium. Am. J. Physiol. Renal Physiol.
282: F541-F552
[Abstract][Full Text]
Chauvet, V., Qian, F., Boute, N., Cai, Y., Phakdeekitacharoen, B., Onuchic, L. F., Attie-Bitach, T., Guicharnaud, L., Devuyst, O., Germino, G. G., Gubler, M.-C.
(2002). Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development. Am. J. Pathol.
160: 973-983
[Abstract][Full Text]
Basora, N., Nomura, H., Berger, U. V., Stayner, C., Guo, L., Shen, X., Zhou, J.
(2002). Tissue and Cellular Localization of a Novel Polycystic Kidney Disease-Like Gene Product, Polycystin-L. J. Am. Soc. Nephrol.
13: 293-301
[Abstract][Full Text]
Ding, L., Zhang, S., Qiu, W., Xiao, C., Wu, S., Zhang, G., Cheng, L., Zhang, S.
(2002). Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant
17: 75-80
[Abstract][Full Text]
Malhas, A. N., Abuknesha, R. A., Price, R. G.
(2002). Interaction of the Leucine-Rich Repeats of Polycystin-1 with Extracellular Matrix Proteins: Possible Role in Cell Proliferation. J. Am. Soc. Nephrol.
13: 19-26
[Abstract][Full Text]
Lane, P., Hao, G., Gross, S. S.
(2001). S-Nitrosylation Is Emerging as a Specific and Fundamental Posttranslational Protein Modification: Head-to-Head Comparison with O-Phosphorylation. Sci Signal
2001: re1-re1
[Abstract][Full Text]
ECDER, T., SCHRIER, R. W.
(2001). Hypertension in Autosomal-Dominant Polycystic Kidney Disease: Early Occurrence and Unique Aspects. J. Am. Soc. Nephrol.
12: 194-200
[Full Text]
Lipschutz, J. H., Guo, W., O'Brien, L. E., Nguyen, Y. H., Novick, P., Mostov, K. E.
(2000). Exocyst Is Involved in Cystogenesis and Tubulogenesis and Acts by Modulating Synthesis and Delivery of Basolateral Plasma Membrane and Secretory Proteins. Mol. Biol. Cell
11: 4259-4275
[Abstract][Full Text]
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.
(2000). A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Hum Mol Genet
9: 2617-2627
[Abstract][Full Text]
HANAOKA, K., GUGGINO, W. B.
(2000). cAMP Regulates Cell Proliferation and Cyst Formation in Autosomal Polycystic Kidney Disease Cells. J. Am. Soc. Nephrol.
11: 1179-1187
[Abstract][Full Text]
GUAY-WOODFORD, L. M., WRIGHT, C. J., WALZ, G., CHURCHILL, G. A.
(2000). Quantitative Trait Loci Modulate Renal Cystic Disease Severity in the Mouse bpk Model. J. Am. Soc. Nephrol.
11: 1253-1260
[Abstract][Full Text]
Sperandio, M., Weber, L., Jauch, A., Janssen, B., Mehls, O., Schaefer, F.
(2000). Cutaneous white spots in a child with polycystic kidneys: a clue to TSC2/PKD1 gene mutation. Nephrol Dial Transplant
15: 909-912
[Full Text]
FOGGENSTEINER, L., BEVAN, A. P., THOMAS, R., COLEMAN, N., BOULTER, C., BRADLEY, J., IBRAGHIMOV-BESKROVNAYA, O., KLINGER, K., SANDFORD, R.
(2000). Cellular and Subcellular Distribution of Polycystin-2, the Protein Product of the PKD2 Gene. J. Am. Soc. Nephrol.
11: 814-827
[Abstract][Full Text]
Gallagher, A. R., Cedzich, A., Gretz, N., Somlo, S., Witzgall, R.
(2000). The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proc. Natl. Acad. Sci. USA
97: 4017-4022
[Abstract][Full Text]
Ali, S. M., Wong, V. Y., Kikly, K., Fredrickson, T. A., Keller, P. M., DeWolf, W. E. Jr., Lee, D., Brooks, D. P.
(2000). Apoptosis in polycystic kidney disease: involvement of caspases. Am. J. Physiol. Regul. Integr. Comp. Physiol.
278: R763-R769
[Abstract][Full Text]
Kim, K., Drummond, I., Ibraghimov-Beskrovnaya, O., Klinger, K., Arnaout, M. A.
(2000). Polycystin 1 is required for the structural integrity of blood vessels. Proc. Natl. Acad. Sci. USA
97: 1731-1736
[Abstract][Full Text]
Koptides, M., Mean, R., Demetriou, K., Pierides, A., Deltas, C. C.
(2000). Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. Hum Mol Genet
9: 447-452
[Abstract][Full Text]
Demetriou, K., Tziakouri, C., Anninou, K., Eleftheriou, A., Koptides, M., Nicolaou, A., Deltas, C. C., Pierides, A.
(2000). Autosomal dominant polycystic kidney disease--type 2. Ultrasound, genetic and clinical correlations. Nephrol Dial Transplant
15: 205-211
[Abstract][Full Text]
Obermuller, N., Gallagher, A. R., Cai, Y., Gassler, N., Gretz, N., Somlo, S., Witzgall, R.
(1999). The rat Pkd2 protein assumes distinct subcellular distributions in different organs. Am. J. Physiol. Renal Physiol.
277: F914-F925
[Abstract][Full Text]
Cai, Y., Maeda, Y., Cedzich, A., Torres, V. E., Wu, G., Hayashi, T., Mochizuki, T., Park, J. H., Witzgall, R., Somlo, S.
(1999). Identification and Characterization of Polycystin-2, the PKD2 Gene Product. J. Biol. Chem.
274: 28557-28565
[Abstract][Full Text]
Neumann, H. P. H.
(1999). The spectrum of renal cysts in adulthood—discussion of eight cases. Nephrol Dial Transplant
14: 2234-2244
[Full Text]
Markowitz, G. S., Cai, Y., Li, L., Wu, G., Ward, L. C., Somlo, S., D'Agati, V. D.
(1999). Polycystin-2 expression is developmentally regulated. Am. J. Physiol. Renal Physiol.
277: F17-F25
[Abstract][Full Text]
VALERO, F. A., MARTINEZ-VEA, A., BARDAJÍ, A., GUTIERREZ, C., GARCIA, C., RICHART, C., OLIVER, J. A.
(1999). Ambulatory Blood Pressure and Left Ventricular Mass in Normotensive Patients with Autosomal Dominant Polycystic Kidney Disease. J. Am. Soc. Nephrol.
10: 1020-1026
[Abstract][Full Text]
Tsiokas, L., Arnould, T., Zhu, C., Kim, E., Walz, G., Sukhatme, V. P.
(1999). Specific association of the gene product of PKD2 with the TRPC1 channel. Proc. Natl. Acad. Sci. USA
96: 3934-3939
[Abstract][Full Text]
Muller, U, Brandli, A.
(1999). Cell adhesion molecules and extracellular-matrix constituents in kidney development and disease. J. Cell Sci.
112: 3855-3867
[Abstract]
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.
(1998). Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects. J. Biol. Chem.
273: 25967-25973
[Abstract][Full Text]
Malka, D, Hammel, P, Vilgrain, V, Flejou, J-F, Belghiti, J, Bernades, P
(1998). Chronic obstructive pancreatitis due to a pancreatic cyst in a patient with autosomal dominant polycystic kidney disease. Gut
42: 131-134
[Abstract][Full Text]
Litchfield, W. R., Anderson, B. F., Weiss, R. J., Lifton, R. P., Dluhy, R. G.
(1998). Intracranial Aneurysm and Hemorrhagic Stroke in Glucocorticoid-remediable Aldosteronism. Hypertension
31: 445-450
[Abstract][Full Text]
Gillis, D., Picard, E., Herz, A., Bar-Ziv, J.
(1997). Tuberous Sclerosis wlith Polycystic Kidneys in an Infant. CLIN PEDIATR
36: 603-605
Ibraghimov-Beskrovnaya, O., Dackowski, W. R., Foggensteiner, L., Coleman, N., Thiru, S., Petry, L. R., Burn, T. C., Connors, T. D., Van Raay, T., Bradley, J., Qian, F., Onuchic, L. F., Watnick, T. J., Piontek, K., Hakim, R. M., Landes, G. M., Germino, G. G., Sandford, R., Klinger, K. W.
(1997). Polycystin: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein. Proc. Natl. Acad. Sci. USA
94: 6397-6402
[Abstract][Full Text]
Williams, A. J., Khachigian, L. M., Shows, T., Collins, T.
(1995). Isolation and Characterization of a Novel Zinc-finger Protein with Transcriptional Repressor Activity. J. Biol. Chem.
270: 22143-22152
[Abstract][Full Text]
Woo, D.
(1995). Apoptosis and Loss of Renal Tissue in Polycystic Kidney Diseases. NEJM
333: 18-25
[Abstract][Full Text]