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Genomes and Genes | York PeiSummaryAffiliation: University of Toronto Country: Canada Publications
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Publications
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney diseaseY Pei
Division of Genomic Medicine, Department of Medicine, University Health Network, Toronto, Ontario, Canada
Am J Hum Genet 68:355-63. 2001..The presence of bilineal disease as a confounder needs to be considered seriously in the search for the elusive PKD3 locus...
Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney diseaseAndrew D Paterson
Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ontario, Canada
Am J Kidney Dis 40:16-20. 2002..CONCLUSION: Given a 25% chance for mutant homozygosity in the offspring of this family, our findings suggest that homozygosity of PKD1 mutations in humans is embryonically lethal, as recently documented in Pkd1 knockout mice...- 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... - Molecular genetics of autosomal dominant polycystic kidney diseaseYork Pei
Division of Nephrology, University Health Network, University of Toronto, Toronto, Ont
Clin Invest Med 26:252-8. 2003..A thorough knowledge of these determinants will allow better patient risk assessment and development of mechanism-based therapy in ADPKD... - Diagnostic approach in autosomal dominant polycystic kidney diseaseYork Pei
Division of Nephrology, Department of Medicine, University Health Network and University of Toronto, Toronto, Ontario, Canada M5G2N2
Clin J Am Soc Nephrol 1:1108-14. 2006.... 
Diagnosis of autosomal dominant polycystic kidney diseaseYork Pei
University Health Network and University of Toronto, Divisons of Nephrology and Genomic Medicine, Department of Medicine, 8N838, 585 University Avenue, Toronto, Ontario, M5G2N2, Canada 1 416 340 4257 1 416 340 4999
Expert Opin Med Diagn 2:763-72. 2008..Therefore, it is likely that there will be an increased demand for accurate and early diagnosis of ADPKD in the not so distant future...- A missense mutation in PKD1 attenuates the severity of renal diseaseYork Pei
Division of Nephrology, University of Toronto, Toronto, Ontario, Canada
Kidney Int 81:412-7. 2012..Thus, Y528C functions as a hypomorphic PKD1 allele. These findings have important implications for pathogenic mechanisms and molecular diagnostics of ADPKD... - Diagnosis and screening of autosomal dominant polycystic kidney diseaseYork Pei
University Health Network and University of Toronto, Ontario, Canada
Adv Chronic Kidney Dis 17:140-52. 2010..Here, we review the clinical utilities and limitations of both imaging- and molecular-based diagnostic tests and outline our approach for the evaluation of individuals suspected to have ADPKD... - Practical genetics for autosomal dominant polycystic kidney diseaseYork Pei
Divisions of Nephrology and Genomic Medicine, University Health Network and University of Toronto, Toronto, Ontario, Canada
Nephron Clin Pract 118:c19-30. 2011..This review will highlight the utility and limitations of clinical predictors of gene types, imaging- and molecular-based diagnostic tests, and present an integrated approach for evaluating individuals suspected to have ADPKD... - Unified criteria for ultrasonographic diagnosis of ADPKDYork Pei
Division of Nephrology, University of Toronto, 8N838, 585 University Avenue, Toronto, Ontario, Canada
J Am Soc Nephrol 20:205-12. 2009..These unified diagnostic criteria will be useful for testing individuals who are at risk for autosomal dominant polycystic kidney disease in the usual clinical setting in which molecular genotyping is seldom performed... - A "two-hit" model of cystogenesis in autosomal dominant polycystic kidney disease?Y Pei
Divisions of Nephrology and Genomic Medicine Dept of Medicine, University Health Network, Toronto, Ontario, Canada M5G 2C4
Trends Mol Med 7:151-6. 2001..This article highlights key findings of these recent studies and discusses the controversies and implications of the "two-hit" model in ADPKD... - Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney diseaseKiarong Wang
Divisions of Nephrology and Genomic Medicine, University Health Network and University of Toronto, Toronto, Ontario Canada
Clin J Am Soc Nephrol 4:442-9. 2009..5% to 5% of ADPKD. We evaluated the role of bioinformatic prediction of atypical splice mutations and determined the pathogenicity of an atypical PKD2 splice variant from a multiplex ADPKD (TOR101) family... - Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney diseaseRiccardo Magistroni
Division of Nephrology and Genomic Medicine, University Health Network, 200 Elizabeth Street, Toronto, Canada M5G 2C4
J Am Soc Nephrol 14:1164-74. 2003..This variability can confound the determination of allelic effects and supports the notion that additional genetic and/or environmental factors may modulate the renal disease severity in ADPKD... - Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney diseaseAndrew D Paterson
Division of Nephrology, University Health Network, 13 EN-228, 200 Elizabeth Street, Toronto, Ontario, Canada M5G 2C4
J Am Soc Nephrol 16:755-62. 2005..78; P = 0.00009) in these latter patients. None of the above covariates influenced the heritability of this trait. It is concluded that a significant modifier gene effect influences the progression of renal disease in type 1 ADPKD... - Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitationsXiao Zhao
Division of Nephrology, University Health Network, Toronto, Ontario, Canada
Clin J Am Soc Nephrol 3:146-52. 2008..This study illustrates its utility and limitations in the clinical setting... - Evaluating the clinical utility of a molecular genetic test for polycystic kidney diseaseMiguel A Garcia-Gonzalez
Johns Hopkins University School of Medicine, Department of Medicine, Division of Nephrology, Baltimore, MD 21205, USA, and Laboratorio de Investigación en Nefroloxía, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain
Mol Genet Metab 92:160-7. 2007..We conclude that a significant fraction of ADPKD mutations are caused by amino acid substitutions that need to be interpreted carefully when utilized in clinical decision-making... - Family history of renal disease severity predicts the mutated gene in ADPKDMoumita Barua
Division of Nephrology and Genomic Medicine, Department of Medicine, University of Toronto and University Health Network, Toronto, Ontario, Canada
J Am Soc Nephrol 20:1833-8. 2009..These data suggest that close attention to the family history of renal disease severity in ADPKD may provide a simple means of predicting the mutated gene, which has prognostic implications... - Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36Andrew D Paterson
Hospital for Sick Children, University of Toronto, Ontario, Canada M5G 2N2
J Am Soc Nephrol 18:2408-15. 2007..Taken together, these data provide strong evidence for a novel disease susceptibility locus for familial IgAN... - IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathyXiao Qing Liu
Program in Genetics and Genome Biology, Hospital for Sick Children, University Health, Network and University of Toronto, Toronto, Ontario, Canada
J Am Soc Nephrol 19:1025-33. 2008..Pending replication, these data suggest that variants of IL5RA and TNFRSF6B may predispose to sporadic IgAN... - Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosisNing He
Division of Nephrology, Toronto General Hospital, University Health Network and University of Toronto, Toronto, Ontario, Canada
Clin J Am Soc Nephrol 2:31-7. 2007..These data do not support R229Q as a disease-causing mutation for steroid-resistant FSGS... - Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney diseaseY Pei
Department of Medicine, Toronto Hospital and University of Toronto, Ontario, Canada
J Am Soc Nephrol 10:1524-9. 1999..In this model, the requirement of a somatic mutation as the rate-limiting step for individual cyst formation has potential therapeutic implications... - Genetic variation of DKK3 may modify renal disease severity in ADPKDMichelle Liu
Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada
J Am Soc Nephrol 21:1510-20. 2010..DKK3 antagonizes Wnt/beta-catenin signaling, which may modulate renal cyst growth. Pending replication, our study suggests that genetic variation of DKK3 may modify severity of ADPKD resulting from PKD1 mutations... - Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networksXuewen Song
Division of Nephrology, University Health Network, McMaster University, Hamilton, Ontario, Canada
Hum Mol Genet 18:2328-43. 2009..Pharmacological modulation of some of these signaling pathways may provide a potential therapeutic strategy for ADPKD... - Diagnosis of autosomal-dominant polycystic kidney disease: an integrated approachMoumita Barua
Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
Semin Nephrol 30:356-65. 2010..Here, we review the clinical utilities and limitations of these imaging- and molecular-based diagnostic tests, and outline our approach for the evaluation of individuals suspected to have ADPKD... - The impact of sex in primary glomerulonephritisDaniel C Cattran
Department of Nephrology, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada
Nephrol Dial Transplant 23:2247-53. 2008..Studies comparing the impact of sex in primary glomerular disease have reported conflicting results... - Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndromeAlireza Zahirieh
Department of Nephrology, University Health Network, Toronto, Ontario, Canada M5G2C4
J Clin Endocrinol Metab 90:2445-50. 2005..These results are consistent with the predicted functions of human GATA3-ZnF1 from three-dimensional molecular modeling and with HDR being a result of GATA3 haploinsufficiency... - A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) geneY Pei
Department of Medicine, Toronto Hospital, Ontario, Canada
Kidney Int 53:1127-32. 1998.... - The natural history of the non-nephrotic membranous nephropathy patientMichelle A Hladunewich
University Health Network, University of Toronto, Toronto, Ontario, Canada
Clin J Am Soc Nephrol 4:1417-22. 2009..Although early studies suggest that patients with idiopathic membranous nephropathy (MGN) and subnephrotic range proteinuria overall do well, these studies were small and follow-up was short or difficult to discern... - Mice overexpressing BAFF develop a commensal flora-dependent, IgA-associated nephropathyDouglas D McCarthy
Department of Immunology, University of Toronto, Toronto, Ontario, Canada
J Clin Invest 121:3991-4002. 2011..These parallels between BAFF-Tg mice and human IgA nephropathy may provide a new framework to explore connections between mucosal environments and renal pathology... - Polycystin-1 C-terminal tail associates with beta-catenin and inhibits canonical Wnt signalingMark Lal
Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, CT 06510, USA
Hum Mol Genet 17:3105-17. 2008..Our results suggest a novel mechanism through which PC1 cleavage may impact upon Wnt-dependent signaling and thereby modulate both developmental processes and cystogenesis... - Incident renal events and risk factors in autosomal dominant polycystic kidney disease: a population and family-based cohort followed for 22 yearsElizabeth Dicks
Clinical Epidemiology Unit and Division of Nephrology, Memorial University of Newfoundland, St. John's, Newfoundland, Canada
Clin J Am Soc Nephrol 1:710-7. 2006..Gender, gender of parent who transmitted PKD, family history of essential hypertension, multiparity, and use of the oral contraceptive pill were not identified as risk factors for renal events in ADPKD... - Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2Xiaogang Li
Renal Division, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Nat Cell Biol 7:1202-12. 2005..Inhibition of Id2 expression by RNA interference corrects the hyperproliferative phenotype of PC1 mutant cells. We propose that Id2 has a crucial role in cell-cycle regulation that is mediated by PC1 and PC2... - Nature and nurture on phenotypic variability of autosomal dominant polycystic kidney diseaseYork Pei
Kidney Int 67:1630-1. 2005 - Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spotsPiotr Kozlowski
Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
Genomics 91:203-8. 2008..Analysis of 15 tuberous sclerosis patient samples in which deletions in TSC2 extended into PKD1 showed no evidence of clustering of breakpoints near the polypyrimidine tract...