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Genomes and Genes | P C HarrisSummaryAffiliation: Mayo Clinic Country: USA Publications
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Publications
Genetic complexity in Joubert syndrome and related disordersP 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-Løken syndrome; both of these disorders share Joubert syndrome phenotypes, illustrating the genetic complexity of this...
Successful disease-specific induced pluripotent stem cell generation from patients with kidney transplantationTayaramma 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...
2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discoveryPeter 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...- Polycystic kidney diseasePeter 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... - Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney diseasePeter 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... - Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1Peter 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... - Understanding pathogenic mechanisms in polycystic kidney disease provides clues for therapyPeter 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... - Molecular diagnostics for autosomal dominant polycystic kidney diseasePeter 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... - Determinants of renal disease variability in ADPKDPeter 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... - Molecular genetics of autosomal recessive polycystic kidney diseasePeter 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... - Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK ratXiaofang Wang
Mayo Foundation, Rochester, Minnesota, USA
J Am Soc Nephrol 16:846-51. 2005.... - Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney diseaseXiaofang 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... - 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... - Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary ciliaChristopher 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... - Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphateTatyana 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.... - Polycystic kidney disease: genes, proteins, animal models, disease mechanisms and therapeutic opportunitiesV 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... - A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatationJ 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... - Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK ratTatyana 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.... - Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney diseaseSandro 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... - Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney diseaseTatyana 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... - A complete mutation screen of the ADPKD genes by DHPLCSandro Rossetti
Division of Nephrology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
Kidney Int 61:1588-99. 2002..Differentiating missense mutations and polymorphisms remains a challenge, but family-based segregation analysis is helpful... - [Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotypeSertac 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... - Germline PKHD1 mutations are protective against colorectal cancerChristopher 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)... - Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver diseaseMarie 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... - Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney diseaseSandro 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... - Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseasesVicente 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... - Autosomal dominant polycystic kidney disease: the last 3 yearsVicente 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... - Genetic studies: a key to understanding pathogenesis in PKDPeter C Harris
Division of Nephrology, Department of Internal Medicine, at the Mayo Clinic in Rochester, Minn, USA
Nephrol News Issues 20:20-2. 2006 - Autosomal dominant polycystic kidney diseaseVicente E Torres
Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Lancet 369:1287-301. 2007.... - Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosisCarla 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... - Effective treatment of an orthologous model of autosomal dominant polycystic kidney diseaseVicente E Torres
Division of Nephrology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
Nat Med 10:363-4. 2004.... - Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney diseaseMark B Consugar
Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Am J Kidney Dis 45:77-87. 2005..The common mutation, T36M, was found to have a single European origin, about 1,225 years ago. CONCLUSION: Improved haplotype analysis of ARPKD complements mutation-based diagnostics and helps trace the history of common PKHD1 mutations... - Analysis of the polycystins in aortic vascular smooth muscle cellsQi 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... - Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK ratsVicente E Torres
Mayo Foundation, Rochester, Minnesota, USA
Kidney Int 66:1766-73. 2004.... - EGF receptor tyrosine kinase inhibition attenuates the development of PKD in Han:SPRD ratsVicente E Torres
Division of Nephrology, Mayo Foundation, Rochester, Minnesota 55905, USA
Kidney Int 64:1573-9. 2003.... - Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cellsQi Qian
Department of Medicine, Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Hum Mol Genet 12:1875-80. 2003.... - A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigreesSandro 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... - Update on autosomal dominant polycystic kidney diseaseV 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... - Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3Mark 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... - Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotypeSandro 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... - Characterization of PKD protein-positive exosome-like vesiclesMarie 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... - The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1Denise 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... - The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal diseaseSandro 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... - The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like proteinChristopher 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... - Vasopressin directly regulates cyst growth in polycystic kidney diseaseXiaofang 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... - Cyclic nucleotide signaling in polycystic kidney diseaseXiaofang 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... - Autosomal dominant polycystic kidney diseaseV E Torres
Division of Nephrology, Mayo Clinic, Rochester, MN, USA
Nefrologia 23:14-22. 2003 - Treatment prospects for autosomal-dominant polycystic kidney diseaseQ 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... - Mutation analysis of the entire PKD1 gene: genetic and diagnostic implicationsS 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... - PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expressionMarie 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... - Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3Rachaneekorn 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... - Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndromeMark 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... - Comprehensive molecular diagnostics in autosomal dominant polycystic kidney diseaseSandro 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... - Autosomal dominant polycystic kidney disease coexisting with cystic fibrosisNancy Xu
Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
J Nephrol 19:529-34. 2006.... - Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney diseaseGordon F Gibbs
Department of Diagnostic Radiology, Mayo Foundation, Rochester, Minnesota 55905, USA
Kidney Int 65:1621-7. 2004..These data do not support widespread screening for intracranial aneurysms in the ADPKD population... - Quantitative assessment of hepatic fibrosis in an animal model with magnetic resonance elastographyMeng 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... - Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndromeAudrey C Woerner
Genet Med 8:197-8. 2006 - Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunctionSurya 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... - The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk ratUrsula 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... - Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutantSatoru 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... - Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complexLinda 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.... - 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... - Molecular pathogenesis of ADPKD: the polycystin complex gets complexAlbert 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.... - 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+ signalingChang 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... - A polycystin-1 multiprotein complex is disrupted in polycystic kidney disease cellsTamara Roitbak
Department of Pathology, University of New Mexico, Health Science Center, Albuquerque, New Mexico 87131, USA
Mol Biol Cell 15:1334-46. 2004.... - Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonistVincent 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... - Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cellsGianluca 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... - Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase CThomas 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... - Development of multiorgan pathology in the wpk rat model of polycystic kidney diseaseVincent 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... - Molecular diagnostics of ADPKD coming of agePeter C Harris
Clin J Am Soc Nephrol 3:1-2. 2008 - Functional characterization of PKDREJ, a male germ cell-restricted polycystinKeith 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... - Progress and prospects in rat genetics: a community viewTimothy 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... - Volume progression in polycystic kidney diseaseJared 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...
Research Grants
- Identifying genetic modifiers of severity in ADPKDPeter C Harris; Fiscal Year: 2010..Positive results will be of prognostic importance and identify targets for therapeutic intervention. ..
- Characterizing the Funtion of Fibbrocystin and Fibbrocystin-LPeter 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. ..
- ADPKD: Disease Spectrum & Genotype-Phenotype CorrelationsPeter 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. ..
- Characterizing the Funtion of Fibbrocystin and Fibbrocystin-LPeter 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. ..
- ADPKD: Disease Spectrum & Genotype-Phenotype CorrelationsPeter 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. ..
- Characterizing the Funtion of Fibbrocystin and Fibbrocystin-LPeter 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. ..
- ADPKD: Disease Spectrum & Genotype-Phenotype CorrelationsPeter 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. ..
- Transgenic and Knockout Models of ADPKDPeter 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. ..
- ADPKD:Disease Spectrum & Genotype-Phenotype CorrelationsPeter Harris; Fiscal Year: 2005....