P C Harris

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi request reprint Genetic complexity in Joubert syndrome and related disorders
    P C Harris
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Kidney Int 72:1421-3. 2007
  2. ncbi request reprint The Genetics of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
    Sandro Rossetti
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 5590, USA
    Curr Hypertens Rev 9:37-43. 2013
  3. pmc Successful disease-specific induced pluripotent stem cell generation from patients with kidney transplantation
    Tayaramma Thatava
    Department of Molecular Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Stem Cell Res Ther 2:48. 2011
  4. pmc Polycystic kidney disease
    Peter C Harris
    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota 55905, USA
    Annu Rev Med 60:321-37. 2009
  5. ncbi request reprint Molecular genetics of autosomal recessive polycystic kidney disease
    Peter C Harris
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 81:75-85. 2004
  6. doi request reprint 2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery
    Peter C Harris
    Division of Nephrology and Hypertension, Mayo Clinic Rochester, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 20:1188-98. 2009
  7. doi request reprint Molecular diagnostics for autosomal dominant polycystic kidney disease
    Peter C Harris
    Division of Nephrology and Hypertension and Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Nat Rev Nephrol 6:197-206. 2010
  8. pmc Determinants of renal disease variability in ADPKD
    Peter C Harris
    Mayo Clinic, Rochester, MN 55905, USA
    Adv Chronic Kidney Dis 17:131-9. 2010
  9. ncbi request reprint Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1
    Peter C Harris
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
    Curr Opin Nephrol Hypertens 11:309-14. 2002
  10. ncbi request reprint Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease
    Peter C Harris
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Am Soc Nephrol 17:3013-9. 2006

Detail Information

Publications74

  1. ncbi request reprint Genetic complexity in Joubert syndrome and related disorders
    P C Harris
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Kidney Int 72:1421-3. 2007
    ..Three of these are also associated with the lethal Meckel syndrome, and two with Senior-L√łken syndrome; both of these disorders share Joubert syndrome phenotypes, illustrating the genetic complexity of this...
  2. ncbi request reprint The Genetics of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
    Sandro Rossetti
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 5590, USA
    Curr Hypertens Rev 9:37-43. 2013
    ..Identifying strong modifiers of this phenotype will be important for prioritizing patients for presymptomatic screening and interventions. ..
  3. pmc Successful disease-specific induced pluripotent stem cell generation from patients with kidney transplantation
    Tayaramma Thatava
    Department of Molecular Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Stem Cell Res Ther 2:48. 2011
    ..Induced pluripotent stem (iPS) cell technology, which allows derivation of patient-specific pluripotent stem cells, could provide a possible alternative modality for kidney replacement therapy for patients with ESRD...
  4. pmc Polycystic kidney disease
    Peter C Harris
    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota 55905, USA
    Annu Rev Med 60:321-37. 2009
    ..Rare, syndromic forms of PKD also include defects of the eye, central nervous system, digits, and/or neural tube and highlight the role of cilia and pathways such as Wnt and Hh in their pathogenesis...
  5. ncbi request reprint Molecular genetics of autosomal recessive polycystic kidney disease
    Peter C Harris
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 81:75-85. 2004
    ..The complexities of PKHD1, marked allelic heterogeneity and high level of missense changes complicate gene-based diagnostics...
  6. doi request reprint 2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery
    Peter C Harris
    Division of Nephrology and Hypertension, Mayo Clinic Rochester, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 20:1188-98. 2009
    ..A number of agents are now in Phase 3 trials, and many others show promise preclinically, providing hope of effective treatments for ADPKD in the foreseeable future...
  7. doi request reprint Molecular diagnostics for autosomal dominant polycystic kidney disease
    Peter C Harris
    Division of Nephrology and Hypertension and Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Nat Rev Nephrol 6:197-206. 2010
    ..In the future, when effective therapies are developed for ADPKD, molecular testing may become increasingly widespread. Rapid developments in DNA sequencing may also revolutionize testing...
  8. pmc Determinants of renal disease variability in ADPKD
    Peter C Harris
    Mayo Clinic, Rochester, MN 55905, USA
    Adv Chronic Kidney Dis 17:131-9. 2010
    ..Although ADPKD is a simple genetic disease, fully understanding the phenotypic variability requires consideration of influences at the genic, allelic, and genetic background level, and so, ultimately, it is complex...
  9. ncbi request reprint Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1
    Peter C Harris
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
    Curr Opin Nephrol Hypertens 11:309-14. 2002
    ..Fibrocystin may act as a receptor with critical roles in collecting-duct and biliary development...
  10. ncbi request reprint Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease
    Peter C Harris
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Am Soc Nephrol 17:3013-9. 2006
    ..These insights will inform the development of targeted therapies in autosomal dominant PKD...
  11. ncbi request reprint Understanding pathogenic mechanisms in polycystic kidney disease provides clues for therapy
    Peter C Harris
    Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Curr Opin Nephrol Hypertens 15:456-63. 2006
    ..This review explores this pathogenesis and determines the role that this knowledge is playing in the development of potential therapies...
  12. ncbi request reprint Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat
    Xiaofang Wang
    Mayo Foundation, Rochester, Minnesota, USA
    J Am Soc Nephrol 16:846-51. 2005
    ....
  13. pmc Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease
    Xiaofang Wang
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Nephrol Dial Transplant 24:526-34. 2009
    ..By both mechanisms, CaR activation could lower intracellular cAMP and inhibit renal cyst growth...
  14. ncbi request reprint Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate
    Tatyana V Masyuk
    Center for Basic Research in Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Gastroenterology 132:1104-16. 2007
    ....
  15. ncbi request reprint Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
    Magdalena Adeva
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Medicine (Baltimore) 85:1-21. 2006
    ..The current study indicates a broadened spectrum for the ARPKD phenotype and that later presenting cases with predominant liver disease should be considered part of ARPKD...
  16. ncbi request reprint Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia
    Christopher J Ward
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 12:2703-10. 2003
    ..The localization of fibrocystin to cilia further strengthens that correlation and indicates that the primary defect in ARPKD may be linked to ciliary dysfunction...
  17. ncbi request reprint A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation
    J R Woollard
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Kidney Int 72:328-36. 2007
    ..These inbred mice will be useful resources for studying the mechanisms underlying the pathogenesis of ARPKD...
  18. ncbi request reprint Polycystic kidney disease: genes, proteins, animal models, disease mechanisms and therapeutic opportunities
    V E Torres
    Division of Nephrology and Hypertension, Mayo College of Medicine, Rochester, MN 55905, USA
    J Intern Med 261:17-31. 2007
    ..This review summarizes the rationale for these treatments, the results of preclinical trials and the prospects for clinical trials, some already in early phases of implementation...
  19. pmc Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney disease
    Tatyana V Masyuk
    Mayo Medical School, Clinic and Foundation, 200 First St, SW, Rochester, MN 55905, USA
    Am J Pathol 165:1719-30. 2004
    ..Our results suggest that the PCK rat is a useful model for studies of biliary cystogenesis and treatment options of inherited cystic liver disease...
  20. ncbi request reprint A complete mutation screen of the ADPKD genes by DHPLC
    Sandro Rossetti
    Division of Nephrology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Kidney Int 61:1588-99. 2002
    ..However, molecular diagnostics by direct mutation screening has proved difficult in this disorder due to genetic and allelic heterogeneity and complexity of the major locus, PKD1...
  21. ncbi request reprint Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat
    Tatyana V Masyuk
    Division of Gastroenterology and Hepatology, Mayo Medical School, Clinic and Foundation, 200 First Street SW, Rochester, MN 55905, USA
    Gastroenterology 125:1303-10. 2003
    ....
  22. ncbi request reprint Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease
    Sandro Rossetti
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Am Soc Nephrol 18:1374-80. 2007
    ..The information that is now available on both genes is of considerable prognostic value with the prospects from the ongoing genetic revolution that additional risk factors will be revealed...
  23. pmc Autosomal dominant polycystic kidney disease: the last 3 years
    Vicente E Torres
    Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Kidney Int 76:149-68. 2009
    ..The purpose of this review is to update the core of knowledge in this area with recent publications that have appeared during 2006-2009...
  24. pmc Germline PKHD1 mutations are protective against colorectal cancer
    Christopher J Ward
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Genet 129:345-9. 2011
    ..0002). We also show that the carriage rate for PKHD1 mutations in the European population is higher than previous accepted at 3.2% (1:31 genomes)...
  25. pmc Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease
    Marie C Hogan
    Division of Nephrology and Hypertension, Department of Biomedical STatistics and Informatics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 21:1052-61. 2010
    ..In summary, octreotide slowed the progressive increase in liver volume and total kidney volume, improved health perception among patients with PLD, and had an acceptable side effect profile...
  26. ncbi request reprint Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis
    Carla G Monico
    Mayo Clinic Hyperoxaluria Center and Department of Internal Medicine, Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55902, USA
    J Am Soc Nephrol 18:1905-14. 2007
    ..Also reported here is previously unavailable evidence for the pathogenic basis of all AGXT missense variants, including evolutionary conservation data in a multisequence alignment and use of a normal control population...
  27. ncbi request reprint Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
    Mark B Consugar
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Am J Kidney Dis 45:77-87. 2005
    ..To improve the prospects for molecular diagnostics and to study the origin of some relatively common mutations, the authors have developed a strategy for improved ARPKD haplotyping...
  28. ncbi request reprint Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases
    Vicente E Torres
    Mayo Clinic College of Medicine, Eisenberg S33B, Nephrology, 200 First St SW, Rochester, MN 55905, USA
    Nat Clin Pract Nephrol 2:40-55; quiz 55. 2006
    ..Some of these have proven effective in preclinical studies, and clinical trials have begun...
  29. ncbi request reprint Autosomal dominant polycystic kidney disease
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Lancet 369:1287-301. 2007
    ....
  30. pmc Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
    Sandro Rossetti
    Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA
    Kidney Int 75:848-55. 2009
    ..Our study indicates that the dosage of functional PKD1 protein may be critical for cyst initiation...
  31. ncbi request reprint Genetic studies: a key to understanding pathogenesis in PKD
    Peter C Harris
    Division of Nephrology, Department of Internal Medicine, at the Mayo Clinic in Rochester, Minn, USA
    Nephrol News Issues 20:20-2. 2006
  32. ncbi request reprint [Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotype
    Sertac N Kip
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    Circ Res 96:873-80. 2005
    ..This elevation can also be induced by reducing [Ca2+]i in wild-type VSMCs. The [Ca2+]i reduction and cAMP accumulation can cause an increase in both cellular proliferation and apoptosis, resembling Pkd mutant phenotype...
  33. ncbi request reprint Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats
    Vicente E Torres
    Mayo Foundation, Rochester, Minnesota, USA
    Kidney Int 66:1766-73. 2004
    ....
  34. ncbi request reprint Analysis of the polycystins in aortic vascular smooth muscle cells
    Qi Qian
    Division of Nephrology, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Am Soc Nephrol 14:2280-7. 2003
    ..These observations are consistent with an important role of the polycystins in the development, maintenance, and function of the myoelastic arterial organization and with the vascular phenotype associated with ADPKD...
  35. ncbi request reprint EGF receptor tyrosine kinase inhibition attenuates the development of PKD in Han:SPRD rats
    Vicente E Torres
    Division of Nephrology, Mayo Foundation, Rochester, Minnesota 55905, USA
    Kidney Int 64:1573-9. 2003
    ....
  36. ncbi request reprint Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease
    Vicente E Torres
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Nat Med 10:363-4. 2004
    ....
  37. ncbi request reprint Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells
    Qi Qian
    Department of Medicine, Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 12:1875-80. 2003
    ....
  38. ncbi request reprint A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
    Sandro Rossetti
    Division of Nephrology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Kidney Int 64:391-403. 2003
    ..The ARPKD gene, PKHD1, has recently been identified. Herein we describe an effective method for PKHD1 mutation screening and the results from analysis of a novel ARPKD cohort...
  39. ncbi request reprint Update on autosomal dominant polycystic kidney disease
    V E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Minerva Med 98:669-91. 2007
    ..Increased understanding of the progression of the disease and of its underlying genetic, molecular and cellular mechanisms have laid the foundations for the development of potentially effective therapies and clinical trials...
  40. pmc Vasopressin directly regulates cyst growth in polycystic kidney disease
    Xiaofang Wang
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 19:102-8. 2008
    ..These observations indicate that AVP is a powerful modulator of cystogenesis and provide further support for clinical trials of V2 receptor antagonists in PKD...
  41. ncbi request reprint The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    Christopher J Ward
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
    Nat Genet 30:259-69. 2002
    ..Fibrocystin may be a receptor protein that acts in collecting-duct and biliary differentiation...
  42. ncbi request reprint The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease
    Sandro Rossetti
    Division of Nephrology and Section of Biostatistics, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Am Soc Nephrol 13:1230-7. 2002
    ..9% and 39.7%, respectively). This study has shown that the position of the PKD1 mutation is significantly associated with earlier ESRD and questions whether PKD1 mutations simply inactivate all products of the gene...
  43. ncbi request reprint Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3
    Mark B Consugar
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Hum Genet 121:591-9. 2007
    ..This study is consistent with further genetic heterogeneity of MKS, but underlines the value of molecular diagnostics of the known genes to aid family planning decisions...
  44. pmc Cyclic nucleotide signaling in polycystic kidney disease
    Xiaofang Wang
    Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Kidney Int 77:129-40. 2010
    ..This may account, in part, for increased cyclic nucleotide signaling in polycystic kidney disease and contribute substantially to disease progression...
  45. ncbi request reprint The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1
    Denise Walker
    Division of Nephrology and Section of Biostatistics, Mayo Clinic, Rochester, MN, USA
    Am J Kidney Dis 41:90-4. 2003
    ..Previously, a glutamic acid to aspartic acid polymorphism at residue 298 (E/D298) of the endothelial nitric oxide synthase (eNOS) gene ENOS was associated with disease severity in males with ADPKD...
  46. pmc Characterization of PKD protein-positive exosome-like vesicles
    Marie C Hogan
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 20:278-88. 2009
    ..These data suggest that PKD proteins are shed in membrane particles in the urine, and these particles interact with primary cilia...
  47. ncbi request reprint Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype
    Sandro Rossetti
    Division of Nephrology, Mayo Clinic, Rochester, MN 55905, USA
    Lancet 361:2196-201. 2003
    ..Familial clustering of intracranial aneurysms suggests that genetic factors are important in the aetiology. We tested whether the germline mutation predisposes to this vascular phenotype...
  48. ncbi request reprint Treatment prospects for autosomal-dominant polycystic kidney disease
    Q Qian
    Mayo Clinic/Mayo Foundation, Rochester, Minnesota 55905, USA
    Kidney Int 59:2005-22. 2001
    ..This review summarizes the observations that already have been made and discusses therapies for PKD that deserve investigation...
  49. pmc Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications
    S Rossetti
    Division of Nephrology, Mayo Clinic, Rochester, MN 55901, USA
    Am J Hum Genet 68:46-63. 2001
    ..The mutation detection rate, in this study, of >50% is comparable to that achieved for other large multiexon genes and shows the feasibility of genetic diagnosis in this disorder...
  50. ncbi request reprint Autosomal dominant polycystic kidney disease
    V E Torres
    Division of Nephrology, Mayo Clinic, Rochester, MN, USA
    Nefrologia 23:14-22. 2003
  51. ncbi request reprint PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression
    Marie C Hogan
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 12:685-98. 2003
    ..Low level expression was detected in many primary immune cell subtypes but up-regulated specifically in T lymphocytes, following activation signals, suggesting a role in cellular immunity...
  52. pmc Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
    Rachaneekorn Tammachote
    Department of Biochemistry Molecular Biology, Mayo Clinic, Rochester, MN, USA
    Hum Mol Genet 18:3311-23. 2009
    ..MKS1 and MKS3 functions are required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication...
  53. pmc Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
    Mark B Consugar
    Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Kidney Int 74:1468-79. 2008
    ..Our assay improves detection levels and the reliability of molecular testing of patients with ADPKD...
  54. ncbi request reprint Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease
    Sandro Rossetti
    Division of Nephrology, Mayo Clinic, Rochester, MN 55905, USA
    J Am Soc Nephrol 18:2143-60. 2007
    ..Although nondefinite mutation data must be treated with care in the clinical setting, this study shows the potential for molecular diagnostics in ADPKD that is likely to become increasingly important as therapies become available...
  55. ncbi request reprint Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis
    Nancy Xu
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Nephrol 19:529-34. 2006
    ....
  56. ncbi request reprint Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease
    Gordon F Gibbs
    Department of Diagnostic Radiology, Mayo Foundation, Rochester, Minnesota 55905, USA
    Kidney Int 65:1621-7. 2004
    ..The risk of growth and rupture of those discovered by presymptomatic screening is key to the feasibility and success of a screening program. This study was initiated to ascertain this risk...
  57. ncbi request reprint Quantitative assessment of hepatic fibrosis in an animal model with magnetic resonance elastography
    Meng Yin
    Department of Radiology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Magn Reson Med 58:346-53. 2007
    ..In conclusion, MRE has the potential not only for assessing liver stiffness, but also for monitoring potential therapies for hepatic fibrosis...
  58. ncbi request reprint Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome
    Audrey C Woerner
    Genet Med 8:197-8. 2006
  59. ncbi request reprint Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction
    Surya M Nauli
    Harvard Institutes of Medicine, Suite 520, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
    J Am Soc Nephrol 17:1015-25. 2006
    ..This report proposes that calcium response to fluid-flow shear stress can be used as a readout of polycystin function and that loss of mechanosensation in the renal tubular epithelia is a feature of PKD cysts...
  60. ncbi request reprint Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex
    Linda J Newby
    Sheffield Kidney Institute, University Section of Medicine, Division of Clinical Sciences, University of Sheffield, Sheffield S5 7AU, United Kingdom
    J Biol Chem 277:20763-73. 2002
    ....
  61. pmc A polycystin-1 multiprotein complex is disrupted in polycystic kidney disease cells
    Tamara Roitbak
    Department of Pathology, University of New Mexico, Health Science Center, Albuquerque, New Mexico 87131, USA
    Mol Biol Cell 15:1334-46. 2004
    ....
  62. ncbi request reprint PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Hum Mutat 23:453-63. 2004
    ..A constantly updated list of mutations is available online (www.humgen.rwth-aachen.de) and investigators are invited to submit their novel data to this PKHD1 mutation database...
  63. ncbi request reprint Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C
    Thomas Hiesberger
    Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, 75390, USA
    J Biol Chem 281:34357-64. 2006
    ..These results identify a novel Ca2+-dependent pathway that signals from fibrocystin located in the cell membrane to the nucleus...
  64. ncbi request reprint Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant
    Satoru Muto
    Department of Urology, The University of Tokyo, Tokyo 113 8655, Japan
    Hum Mol Genet 11:1731-42. 2002
    ..Pathways activated by thiazolidinediones may provide new therapeutic targets in ADPKD...
  65. ncbi request reprint The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
    Ursula M Smith
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
    Nat Genet 38:191-6. 2006
    ..It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin...
  66. ncbi request reprint Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist
    Vincent H Gattone
    Anatomy and Cell Biology, Indiana University School of Medicine, 635 Barnhill Drive, Indianapolis, Indiana 46202, USA
    Nat Med 9:1323-6. 2003
    ..These results indicate that OPC31260 may be an effective treatment for these disorders and that clinical trials should be considered...
  67. ncbi request reprint Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells
    Gianluca Aguiari
    Department of Biochemistry and Molecular Biology, University of Ferrara, Ferrara, Italy
    FASEB J 18:884-6. 2004
    ..Therefore, PC2 and PC1 are functionally expressed in LCLs, which provide a model, easily obtainable from ADPKD patients, to study PKD gene expression and function...
  68. ncbi request reprint Development of multiorgan pathology in the wpk rat model of polycystic kidney disease
    Vincent H Gattone
    Department of Anatomy and Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    Anat Rec A Discov Mol Cell Evol Biol 277:384-95. 2004
    ..The wpk gene lies within a chromosomal region known to harbor a PKD modifier locus. In summary, the types of renal and cerebral pathology seen in the Wistar wpk rat are a unique combination seen only in this rodent model...
  69. pmc Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling
    Chang Xu
    Molecular and Vascular Medicine Unit and Renal Division, Beth Israel Deaconess Medical Center E RW763, Boston, MA 02215, USA
    Am J Physiol Renal Physiol 292:F930-45. 2007
    ..7-PKD1(115-226) expression to accelerate decay of the flow-induced Ca(2+) signal in NK cells. These data provide evidence for ciliary dysfunction and polycystin mislocalization in human ADPKD cells with normal levels of PC1...
  70. ncbi request reprint Molecular pathogenesis of ADPKD: the polycystin complex gets complex
    Albert C M Ong
    Academic Nephrology Unit, Sheffield Kidney Institute, Division of Clinical Sciences North, University of Sheffield, Sheffield, United Kingdom
    Kidney Int 67:1234-47. 2005
    ....
  71. ncbi request reprint Volume progression in polycystic kidney disease
    Jared J Grantham
    Kidney Institute and the Department of Internal Medicine, Kansas University Medical Center, Kansas City, KS 66160, USA
    N Engl J Med 354:2122-30. 2006
    ..Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive enlargement of cyst-filled kidneys...
  72. ncbi request reprint Functional characterization of PKDREJ, a male germ cell-restricted polycystin
    Keith A Sutton
    Department of Cell Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA
    J Cell Physiol 209:493-500. 2006
    ..These interactions, as well as polycystin-2 association with TRPC channels, are consistent with a role of this protein in the regulation of the acrosome reaction and in other aspects of sperm physiology...
  73. doi request reprint Progress and prospects in rat genetics: a community view
    Timothy J Aitman
    Medical Research Council Clinical Sciences Centre and Imperial College London, Du Cane Road, London W12 0NN, UK
    Nat Genet 40:516-22. 2008
    ..Finally, we present a set of principles that justify continuing and strengthening genetic studies in the rat model, and further development of genomic infrastructure for rat research...
  74. doi request reprint Molecular diagnostics of ADPKD coming of age
    Peter C Harris
    Clin J Am Soc Nephrol 3:1-2. 2008

Research Grants20

  1. Identifying genetic modifiers of severity in ADPKD
    Peter C Harris; Fiscal Year: 2010
    ..Positive results will be of prognostic importance and identify targets for therapeutic intervention. ..
  2. Characterizing the Funtion of Fibbrocystin and Fibbrocystin-L
    Peter Harris; Fiscal Year: 2007
    ..Overall the project will reveal functional information about the roles of the fibrocystin protein family and identify signaling/developmental pathways involving these molecules. ..
  3. ADPKD: Disease Spectrum & Genotype-Phenotype Correlations
    Peter Harris; Fiscal Year: 2007
    ..The expression, localization and complexing functions of these aberrant molecules will be assayed by western blotting, immunofluorescence and immunoprecipitation to judge possible dominant negative mechanisms of mutation. ..
  4. Characterizing the Funtion of Fibbrocystin and Fibbrocystin-L
    Peter Harris; Fiscal Year: 2009
    ..Overall the project will reveal functional information about the roles of the fibrocystin protein family and identify signaling/developmental pathways involving these molecules. ..
  5. ADPKD: Disease Spectrum & Genotype-Phenotype Correlations
    Peter Harris; Fiscal Year: 2009
    ..The expression, localization and complexing functions of these aberrant molecules will be assayed by western blotting, immunofluorescence and immunoprecipitation to judge possible dominant negative mechanisms of mutation. ..
  6. Characterizing the Funtion of Fibbrocystin and Fibbrocystin-L
    Peter C Harris; Fiscal Year: 2010
    ..Overall the project will reveal functional information about the roles of the fibrocystin protein family and identify signaling/developmental pathways involving these molecules. ..
  7. ADPKD: Disease Spectrum & Genotype-Phenotype Correlations
    Peter C Harris; Fiscal Year: 2010
    ..Finally, revolutionary new DNA characterization methods will be utilized. The results from this study will improve diagnostics and prognostics for ADPKD, plus provide a better animal model for testing potential therapies. ..
  8. Transgenic and Knockout Models of ADPKD
    Peter Harris; Fiscal Year: 2006
    ..This system will allow temporal and spatial control of Pkd1 inactivation and allow the post- developmental role of polycystin-1 to be investigated in different organs and cell types. ..
  9. ADPKD:Disease Spectrum & Genotype-Phenotype Correlations
    Peter Harris; Fiscal Year: 2005
    ....