Genetics and pathogenesis of polycystic kidney disease.
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[1] B. G. Ockenden,et al. Polycystic disease of kidney and liver presenting in childhood. , 1971, Journal of medical genetics.
[2] R. Bulger,et al. Scanning and transmission electron microscopy of the rat kidney. , 1974, The American journal of anatomy.
[3] K. Porter,et al. A scanning electron microscopic study of the nephron. , 1974, The American journal of anatomy.
[4] W. Webber,et al. Fine structure of mammalian renal cilia , 1975, The Anatomical record.
[5] L. Baert,et al. Hereditary polycystic kidney disease (adult form): a microdissection study of two cases at an early stage of the disease. , 1978, Kidney international.
[6] P. Kaplan,et al. Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. , 1988, American journal of medical genetics.
[7] P. Gabow,et al. Linkage heterogeneity of autosomal dominant polycystic kidney disease. , 1988, The New England journal of medicine.
[8] C. Rieder,et al. Flexible-substratum technique for viewing cells from the side: some in vivo properties of primary (9+0) cilia in cultured kidney epithelia. , 1988, Journal of cell science.
[9] F. Brunelle,et al. Cystic renal diseases in children. , 1989, Advances in nephrology from the Necker Hospital.
[10] P. Rust,et al. Intrafamilial phenotypic expression of autosomal dominant polycystic kidney disease. , 1992, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[11] L. Sandkuijl,et al. Genetic heterogeneity of polycystic kidney disease in Europe. , 1992, Contributions to nephrology.
[12] Sobel Bj. Extrarenal manifestations of autosomal dominant polycystic kidney disease. , 1992 .
[13] J. Grantham. 1992 Homer Smith Award. Fluid secretion, cellular proliferation, and the pathogenesis of renal epithelial cysts. , 1993, Journal of the American Society of Nephrology : JASN.
[14] A. Woolf,et al. Taxol inhibits progression of congenital polycystic kidney disease , 1994, Nature.
[15] J. Calvet. Injury and development in polycystic kidney disease. , 1994, Current opinion in nephrology and hypertension.
[16] Siep Thomas,et al. THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16 , 1994 .
[17] W E Sweeney,et al. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. , 1994, Science.
[18] B. Wirth,et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen , 1994, Nature Genetics.
[19] K. Georgopoulos,et al. A dominant mutation in the Ikaros gene leads to rapid development of leukemia and lymphoma , 1995, Cell.
[20] D. Wheatley. Primary cilia in normal and pathological tissues. , 1995, Pathobiology : journal of immunopathology, molecular and cellular biology.
[21] J. Hughes,et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains , 1995, Nature Genetics.
[22] E. Avner,et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. , 1995, American journal of human genetics.
[23] K. Blick,et al. Proliferative activity of cyst epithelium in human renal cystic diseases. , 1995, Journal of the American Society of Nephrology.
[24] K. Zerres,et al. Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships , 1995, Clinical genetics.
[25] P. Bork,et al. Polycystic kidney disease: The complete structure of the PKD1 gene and its protein , 1995, Cell.
[26] Y. Pei,et al. Identification and localization of polycystin, the PKD1 gene product. , 1996, The Journal of clinical investigation.
[27] M. Mclaughlin,et al. Characterization and Cell Distribution of Polycystin, the Product of Autosomal Dominant Polycystic Kidney Disease Gene 1 , 1996, Molecular medicine.
[28] G. Germino,et al. The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I , 1996, Cell.
[29] K. Zerres,et al. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender , 1996, Acta paediatrica.
[30] Patricia A. Gabow,et al. PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein , 1996, Science.
[31] W. Swanson,et al. The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1 , 1996, The Journal of cell biology.
[32] E. Avner,et al. Efficacy of taxol in the orpk mouse model of polycystic kidney disease , 1997, Pediatric Nephrology.
[33] A. P. Tabancay,et al. Microtubule active taxanes inhibit polycystic kidney disease progression in cpk mice. , 1997, Kidney international.
[34] P. Wilson. Epithelial cell polarity and disease. , 1997, The American journal of physiology.
[35] G. Germino,et al. PKD1 interacts with PKD2 through a probable coiled-coil domain , 1997, Nature Genetics.
[36] Weining Lu,et al. Distribution and developmentally regulated expression of murine polycystin. , 1997, The American journal of physiology.
[37] K. Klinger,et al. Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[38] Richard S. Trompeter,et al. Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors , 1997, Pediatric Nephrology.
[39] S. Brenner,et al. Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. , 1997, Human molecular genetics.
[40] V. Sukhatme,et al. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[41] Weining Lu,et al. Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation , 1997, Nature Genetics.
[42] E. Henske,et al. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. , 1997, The Journal of clinical investigation.
[43] E. A. Schwartz,et al. Analysis and modeling of the primary cilium bending response to fluid shear. , 1997, The American journal of physiology.
[44] T. Okamoto,et al. The Polycystic Kidney Disease-1 Protein, Polycystin-1, Binds and Activates Heterotrimeric G-Proteinsin Vitro , 1998 .
[45] K. Klinger,et al. Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. , 1998, Molecular cell.
[46] R. Kucherlapati,et al. Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease , 1998, Cell.
[47] Paul A. Overbeek,et al. Cloning of inv, a gene that controls left/right asymmetry and kidney development , 1998, Nature.
[48] T. Okamoto,et al. The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro. , 1998, Biochemical and biophysical research communications.
[49] A. Paterson,et al. A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. , 1998, Journal of the American Society of Nephrology : JASN.
[50] K. Zerres,et al. Autosomal recessive polycystic kidney disease. , 1998, Journal of molecular medicine.
[51] E. Avner,et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. , 1998, American journal of medical genetics.
[52] G. Walz,et al. The Polycystic Kidney Disease 1 Gene Product Mediates Protein Kinase C α-dependent and c-Jun N-terminal Kinase-dependent Activation of the Transcription Factor AP-1* , 1998, The Journal of Biological Chemistry.
[53] V. D’Agati,et al. Polycystin-2 expression is developmentally regulated , 1999 .
[54] A. Bateman,et al. The PLAT domain: a new piece in the PKD1 puzzle , 1999, Current Biology.
[55] S. Somlo,et al. Identification and Characterization of Polycystin-2, the PKD2 Gene Product* , 1999, The Journal of Biological Chemistry.
[56] J. Hughes,et al. Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein. , 1999, Human molecular genetics.
[57] Thierry Arnould,et al. The Polycystic Kidney Disease 1 Gene Product Modulates Wnt Signaling* , 1999, The Journal of Biological Chemistry.
[58] Paul W. Sternberg,et al. A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans , 1999, Nature.
[59] R. Fossdal,et al. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. , 1999, Journal of the American Society of Nephrology : JASN.
[60] E. Avner,et al. New insights into the molecular pathophysiology of polycystic kidney disease. , 1999, Kidney international.
[61] V. D’Agati,et al. Polycystin-2 expression is developmentally regulated. , 1999, The American journal of physiology.
[62] P. S. St George-Hyslop,et al. Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. , 1999, Journal of the American Society of Nephrology : JASN.
[63] N. Rifai,et al. Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes , 1999, Nature Genetics.
[64] A. Pierides,et al. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. , 1999, Human molecular genetics.
[65] R. Torra,et al. Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis. , 1999, Radiology.
[66] K. Hofmann,et al. A latrophilin/CL-1-like GPS domain in polycystin-1 , 1999, Current Biology.
[67] The rat pkd2 protein assumes distinct subcellular distributions in different organs. , 1999, The American journal of physiology.
[68] T. Benzing,et al. Interaction between RGS7 and polycystin. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[69] E. Coto,et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2 , 1999, The Lancet.
[70] A. N. Goncharuk,et al. A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. , 1999, Genomics.
[71] Y Huan,et al. Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins. , 1999, The Journal of clinical investigation.
[72] N. Hirokawa,et al. Abnormal nodal flow precedes situs inversus in iv and inv mice. , 1999, Molecular cell.
[73] Angela Wandinger-Ness,et al. Compromised Cytoarchitecture and Polarized Trafficking in Autosomal Dominant Polycystic Kidney Disease Cells , 2000, The Journal of cell biology.
[74] W. Richards,et al. The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination. , 2000, Development.
[75] K. Klinger,et al. Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene. , 2000, Journal of the American Society of Nephrology : JASN.
[76] G. Pazour,et al. Chlamydomonas IFT88 and Its Mouse Homologue, Polycystic Kidney Disease Gene Tg737, Are Required for Assembly of Cilia and Flagella , 2000, The Journal of cell biology.
[77] D Ravine,et al. Location of mutations within the PKD2 gene influences clinical outcome. , 2000, Kidney international.
[78] G. Germino,et al. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents , 2000, Nature.
[79] M. Breuning,et al. Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells. , 2000, Human molecular genetics.
[80] G. Germino,et al. Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells. , 2000, Molecular cell.
[81] P. George-Hyslop,et al. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations , 2000, Nature Genetics.
[82] K. Klinger,et al. Polycystin 1 is required for the structural integrity of blood vessels. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[83] E. Avner,et al. Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease. , 2000, Journal of the American Society of Nephrology : JASN.
[84] R. Torra,et al. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. , 2000, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[85] Lin Geng,et al. Cardiac defects and renal failure in mice with targeted mutations in Pkd2 , 2000, Nature Genetics.
[86] A. Pierides,et al. Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. , 2000, Human molecular genetics.
[87] A. Paterson,et al. Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. , 2001, American journal of human genetics.
[88] M. Arnaout,et al. Polycystin-1 Interacts with Intermediate Filaments* , 2001, The Journal of Biological Chemistry.
[89] B. Yoder,et al. Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia. , 2001, Molecular biology of the cell.
[90] D. Hall,et al. The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway , 2001, Current Biology.
[91] P. Harris,et al. Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects. , 2001, Human molecular genetics.
[92] B. Dworniczak,et al. Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. , 2001, Genomics.
[93] M. Barr,et al. An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons , 2001, Current Biology.
[94] X. Chen,et al. Vascular expression of polycystin-2. , 1997, Journal of the American Society of Nephrology : JASN.
[95] H. Cantiello,et al. Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel. , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[96] J. Grantham,et al. Polycystic kidney disease: from the bedside to the gene and back , 2001, Current opinion in nephrology and hypertension.
[97] K. R. Spring,et al. Bending the MDCK Cell Primary Cilium Increases Intracellular Calcium , 2001, The Journal of Membrane Biology.
[98] G. Germino,et al. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. , 2001, Journal of the American Society of Nephrology : JASN.
[99] D. Chauveau,et al. Autosomal recessive polycystic kidney disease in adulthood. , 2001, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[100] J. Thomas,et al. The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms. , 2001, Development.
[101] E. Brown,et al. Polycystin-2 is a novel cation channel implicated in defective intracellular Ca(2+) homeostasis in polycystic kidney disease. , 2001, Biochemical and biophysical research communications.
[102] C. Deltas. Mutations of the human polycystic kidney disease 2 (PKD2) gene , 2001, Human mutation.
[103] K. Brindle,et al. Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[104] P. Courtoy,et al. Biochemical characterization of bona fide polycystin-1 in vitro and in vivo. , 2001, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[105] A. Bakkaloğlu,et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. , 2001, American journal of human genetics.
[106] Alessandra 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 , 2002, Cell.
[107] B. Ehrlich,et al. Signaling Microdomains InsP3 Receptor Localization Takes on New Meaning , 2002, Neuron.
[108] Gregory R Pond,et al. The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. , 2002, Journal of the American Society of Nephrology : JASN.
[109] Vicente E. Torres,et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein , 2002, Nature Genetics.
[110] Z. Zhao,et al. A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. , 2002, Genomics.
[111] Jing Zhou,et al. Constitutive Activation of G-proteins by Polycystin-1 Is Antagonized by Polycystin-2* , 2002, The Journal of Biological Chemistry.
[112] M. Emond,et al. The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[113] P. D’Eustachio,et al. Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. , 2002, The Journal of clinical investigation.
[114] V. Vacquier,et al. suREJ3, a Polycystin-1 Protein, Is Cleaved at the GPS Domain and Localizes to the Acrosomal Region of Sea Urchin Sperm* , 2002, The Journal of Biological Chemistry.
[115] C. Bugg,et al. Polaris, a protein disrupted in orpk mutant mice, is required for assembly of renal cilium. , 2002, American journal of physiology. Renal physiology.
[116] Hongyu Zhao,et al. Trans-heterozygous Pkd 1 and Pkd 2 mutations modify expression of polycystic kidney disease , 2002 .
[117] S. Somlo,et al. Polycystin-2 is an intracellular calcium release channel , 2002, Nature Cell Biology.
[118] M. Breuning,et al. Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells. , 2002, Human molecular genetics.
[119] P. Harris,et al. Identification, Characterization, and Localization of a Novel Kidney Polycystin-1-Polycystin-2 Complex* , 2002, The Journal of Biological Chemistry.
[120] E. Avner,et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. , 2002, American journal of human genetics.
[121] M. R. Islam,et al. The Polycystic Kidney Disease-1 Promoter Is a Target of the β-Catenin/T-cell Factor Pathway* , 2002, The Journal of Biological Chemistry.
[122] B. Dworniczak,et al. The Ion Channel Polycystin-2 Is Required for Left-Right Axis Determination in Mice , 2002, Current Biology.
[123] K. Klinger,et al. Functional polycystin-1 expression is developmentally regulated during epithelial morphogenesis in vitro: downregulation and loss of membrane localization during cystogenesis. , 2002, Human molecular genetics.
[124] James P Calvet,et al. Polycystin-1 Activation of c-Jun N-terminal Kinase and AP-1 Is Mediated by Heterotrimeric G Proteins* , 2002, The Journal of Biological Chemistry.
[125] E. Avner,et al. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. , 2002, Journal of the American Society of Nephrology : JASN.
[126] G. Pazour,et al. Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease , 2002, Current Biology.
[127] Kenji Nakamura,et al. Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant. , 2002, Human molecular genetics.
[128] L. Guay-Woodford,et al. The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. , 2002, Journal of the American Society of Nephrology : JASN.
[129] V. Torres,et al. A complete mutation screen of the ADPKD genes by DHPLC. , 2002, Kidney international.
[130] E. Avner,et al. Congenital murine polycystic kidney disease , 1987, Pediatric Nephrology.
[131] The European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 , 2004, Pediatric Nephrology.