York Pei

Summary

Affiliation: University of Toronto
Country: Canada

Publications

  1. pmc Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease
    Y Pei
    Division of Genomic Medicine, Department of Medicine, University Health Network, Toronto, Ontario, Canada
    Am J Hum Genet 68:355-63. 2001
  2. ncbi request reprint Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease
    Andrew D Paterson
    Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Kidney Dis 40:16-20. 2002
  3. 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
  4. ncbi request reprint Molecular genetics of autosomal dominant polycystic kidney disease
    York Pei
    Division of Nephrology, University Health Network, University of Toronto, Toronto, Ont
    Clin Invest Med 26:252-8. 2003
  5. ncbi request reprint Diagnostic approach in autosomal dominant polycystic kidney disease
    York 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
  6. doi request reprint Diagnosis of autosomal dominant polycystic kidney disease
    York 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
  7. doi request reprint A missense mutation in PKD1 attenuates the severity of renal disease
    York Pei
    Division of Nephrology, University of Toronto, Toronto, Ontario, Canada
    Kidney Int 81:412-7. 2012
  8. doi request reprint Practical genetics for autosomal dominant polycystic kidney disease
    York Pei
    Divisions of Nephrology and Genomic Medicine, University Health Network and University of Toronto, Toronto, Ontario, Canada
    Nephron Clin Pract 118:c19-30. 2011
  9. pmc Diagnosis and screening of autosomal dominant polycystic kidney disease
    York Pei
    University Health Network and University of Toronto, Ontario, Canada
    Adv Chronic Kidney Dis 17:140-52. 2010
  10. pmc Unified criteria for ultrasonographic diagnosis of ADPKD
    York Pei
    Division of Nephrology, University of Toronto, 8N838, 585 University Avenue, Toronto, Ontario, Canada
    J Am Soc Nephrol 20:205-12. 2009

Collaborators

Detail Information

Publications34

  1. pmc Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease
    Y 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...
  2. ncbi request reprint Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease
    Andrew D Paterson
    Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Kidney Dis 40:16-20. 2002
    ..Mutations in one of two genes, PKD1 and PKD2, account for the disease in most ADPKD families. Despite the relative high frequency of PKD1 mutant alleles, compound heterozygotes or diseased homozygotes have not been described...
  3. 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...
  4. ncbi request reprint Molecular genetics of autosomal dominant polycystic kidney disease
    York 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...
  5. ncbi request reprint Diagnostic approach in autosomal dominant polycystic kidney disease
    York 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
    ....
  6. doi request reprint Diagnosis of autosomal dominant polycystic kidney disease
    York 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...
  7. doi request reprint A missense mutation in PKD1 attenuates the severity of renal disease
    York 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...
  8. doi request reprint Practical genetics for autosomal dominant polycystic kidney disease
    York 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...
  9. pmc Diagnosis and screening of autosomal dominant polycystic kidney disease
    York 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...
  10. pmc Unified criteria for ultrasonographic diagnosis of ADPKD
    York 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...
  11. ncbi request reprint 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...
  12. pmc Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease
    Kiarong 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...
  13. ncbi request reprint Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease
    Riccardo 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...
  14. ncbi request reprint Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease
    Andrew 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...
  15. pmc Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease
    Miguel 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...
  16. pmc Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations
    Xiao 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...
  17. ncbi request reprint Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36
    Andrew 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...
  18. pmc Family history of renal disease severity predicts the mutated gene in ADPKD
    Moumita 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...
  19. pmc IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy
    Xiao 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...
  20. ncbi request reprint Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis
    Ning 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...
  21. ncbi request reprint Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease
    Y 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...
  22. pmc Genetic variation of DKK3 may modify renal disease severity in ADPKD
    Michelle 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...
  23. doi request reprint Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks
    Xuewen 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...
  24. doi request reprint Diagnosis of autosomal-dominant polycystic kidney disease: an integrated approach
    Moumita 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...
  25. doi request reprint The impact of sex in primary glomerulonephritis
    Daniel 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...
  26. ncbi request reprint Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
    Alireza 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...
  27. ncbi request reprint A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene
    Y Pei
    Department of Medicine, Toronto Hospital, Ontario, Canada
    Kidney Int 53:1127-32. 1998
    ....
  28. pmc The natural history of the non-nephrotic membranous nephropathy patient
    Michelle 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...
  29. pmc Mice overexpressing BAFF develop a commensal flora-dependent, IgA-associated nephropathy
    Douglas 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...
  30. pmc Polycystin-1 C-terminal tail associates with beta-catenin and inhibits canonical Wnt signaling
    Mark 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...
  31. ncbi request reprint Incident renal events and risk factors in autosomal dominant polycystic kidney disease: a population and family-based cohort followed for 22 years
    Elizabeth 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...
  32. ncbi request reprint Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2
    Xiaogang 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...
  33. ncbi request reprint Nature and nurture on phenotypic variability of autosomal dominant polycystic kidney disease
    York Pei
    Kidney Int 67:1630-1. 2005
  34. pmc Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots
    Piotr 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...