Constantin Polychronakos

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. doi Understanding type 1 diabetes through genetics: advances and prospects
    Constantin Polychronakos
    Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada H3H 1P3 Constantin
    Nat Rev Genet 12:781-92. 2011
  2. ncbi In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
    Hui Qi Qu
    Department of Pediatrics, McGill University, Montreal, QC, Canada H4H 2P4
    Hum Mol Genet 19:2534-8. 2010
  3. pmc Yeast one-hybrid screen of a thymus epithelial library identifies ZBTB7A as a regulator of thymic insulin expression
    Julien R St-Jean
    Laboratory of Endocrine Genetics, Department of Pediatrics, The McGill University Health Center, 4060 Ste Catherine West, Montreal, Quebec, Canada H3Z 2Z3
    Mol Immunol 56:637-42. 2013
  4. doi A cis-acting regulatory variant in the IL2RA locus
    Hui Qi Qu
    Endocrine Genetics Lab, The McGill University Health Center and Montreal Children s Hospital, Montreal, Quebec, Canada
    J Immunol 183:5158-62. 2009
  5. pmc Expression profile of a clonal insulin-expressing epithelial cell in the thymus
    Dina Levi
    Endocrine Genetics, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada
    Mol Immunol 56:804-10. 2013
  6. pmc Genome-wide search for exonic variants affecting translational efficiency
    Quan Li
    Endocrine Genetics Laboratory, The McGill University Health Center, Montreal Children s Hospital, Montreal, Quebec, Canada
    Nat Commun 4:2260. 2013
  7. ncbi Association of the cytotoxic T lymphocyte-associated antigen 4 gene with type 1 diabetes: evidence for independent effects of two polymorphisms on the same haplotype block
    Suzana M Anjos
    Department of Pediatrics, Division of Pediatrics Endocrinology, McGill University Health Center, Montreal, Quebec, Canada
    J Clin Endocrinol Metab 89:6257-65. 2004
  8. ncbi Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes
    Luc Marchand
    Endocrine Genetics Laboratory, McGill University Health Center, Montreal, Quebec, Canada H3H 1P3
    Diabetes 56:709-13. 2007
  9. ncbi Isolation and characterization of proinsulin-producing medullary thymic epithelial cell clones
    Michael O Palumbo
    McGill University Health Center, Montreal Children s Hospital, Research Institute, Montreal, Quebec, Canada H3H 1P3
    Diabetes 55:2595-601. 2006
  10. pmc The TCF7L2 locus and type 1 diabetes
    Hui Qi Qu
    Endocrine Genetics Lab, The McGill University Health Center, Montreal Children s Hospital, Montreal, Quebec, Canada
    BMC Med Genet 8:51. 2007

Collaborators

Detail Information

Publications37

  1. doi Understanding type 1 diabetes through genetics: advances and prospects
    Constantin Polychronakos
    Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada H3H 1P3 Constantin
    Nat Rev Genet 12:781-92. 2011
    ..The triggering of these events by dysregulation of the innate immune system has also been implicated by genetic evidence. Finally, genetic prediction of T1D risk is showing promise of use for preventive strategies...
  2. ncbi In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
    Hui Qi Qu
    Department of Pediatrics, McGill University, Montreal, QC, Canada H4H 2P4
    Hum Mol Genet 19:2534-8. 2010
    ..This study replicated T1D association with at least as many of these novel loci as expected from the power of our sample size, thus supporting the validity of the new discoveries...
  3. pmc Yeast one-hybrid screen of a thymus epithelial library identifies ZBTB7A as a regulator of thymic insulin expression
    Julien R St-Jean
    Laboratory of Endocrine Genetics, Department of Pediatrics, The McGill University Health Center, 4060 Ste Catherine West, Montreal, Quebec, Canada H3Z 2Z3
    Mol Immunol 56:637-42. 2013
    ..Thus, ZBTB7A is identified as a strong candidate for regulation of thymic insulin expression. ..
  4. doi A cis-acting regulatory variant in the IL2RA locus
    Hui Qi Qu
    Endocrine Genetics Lab, The McGill University Health Center and Montreal Children s Hospital, Montreal, Quebec, Canada
    J Immunol 183:5158-62. 2009
    ....
  5. pmc Expression profile of a clonal insulin-expressing epithelial cell in the thymus
    Dina Levi
    Endocrine Genetics, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada
    Mol Immunol 56:804-10. 2013
    ..In this study, we compared the insulin expressing cell line to an insulin non-expressing mTEC line by genome-wide expression profiling...
  6. pmc Genome-wide search for exonic variants affecting translational efficiency
    Quan Li
    Endocrine Genetics Laboratory, The McGill University Health Center, Montreal Children s Hospital, Montreal, Quebec, Canada
    Nat Commun 4:2260. 2013
    ..Our results are a proof-of-principle that allelic effects on translation can be detected at a transcriptome-wide scale. ..
  7. ncbi Association of the cytotoxic T lymphocyte-associated antigen 4 gene with type 1 diabetes: evidence for independent effects of two polymorphisms on the same haplotype block
    Suzana M Anjos
    Department of Pediatrics, Division of Pediatrics Endocrinology, McGill University Health Center, Montreal, Quebec, Canada
    J Clin Endocrinol Metab 89:6257-65. 2004
    ..Either the two polymorphisms define a haplotype carrying the (yet unexamined) functional variant or the -319C>T contributes to the genetic association independently, a possibility suggested by the functional evidence we present...
  8. ncbi Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes
    Luc Marchand
    Endocrine Genetics Laboratory, McGill University Health Center, Montreal, Quebec, Canada H3H 1P3
    Diabetes 56:709-13. 2007
    ..We believe that this level would have a minor, if any, biological effect involved in the mechanism of the IDDM2 locus...
  9. ncbi Isolation and characterization of proinsulin-producing medullary thymic epithelial cell clones
    Michael O Palumbo
    McGill University Health Center, Montreal Children s Hospital, Research Institute, Montreal, Quebec, Canada H3H 1P3
    Diabetes 55:2595-601. 2006
    ....
  10. pmc The TCF7L2 locus and type 1 diabetes
    Hui Qi Qu
    Endocrine Genetics Lab, The McGill University Health Center, Montreal Children s Hospital, Montreal, Quebec, Canada
    BMC Med Genet 8:51. 2007
    ..This study aimed to investigate the possibility of genetic association between TCF7L2 and type 1 diabetes (T1D)...
  11. ncbi Toward further mapping of the association between the IL2RA locus and type 1 diabetes
    Hui Qi Qu
    Endocrine Genetics Laboratory, McGill University Health Center Montreal Children s Hospital, Montreal, Quebec, Canada
    Diabetes 56:1174-6. 2007
    ....
  12. pmc Study of transcriptional effects in Cis at the IFIH1 locus
    Hana Zouk
    Endocrine Genetics Laboratory, McGill University Health Center, Montreal Children s Hospital Research Institute, McGill University, Montreal, Quebec, Canada
    PLoS ONE 5:e11564. 2010
    ..The absence of common nsSNPs in the other genes makes the IFIH1 SNP the strongest functional candidate, but it could be merely a marker of association, due to LD with a variant regulating expression levels of IFIH1 or neighboring genes...
  13. doi Self-antigen expression in thymic epithelial cells in Ifn-γ or Tnf-α deficiency
    Dina Levi
    Endocrine Genetics, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada
    Cytokine 62:433-8. 2013
    ..These findings suggest regulation of tissue-specific antigen production in the thymus by these two cytokines that is parallel to that controlled by AIRE...
  14. pmc Association analysis of type 2 diabetes Loci in type 1 diabetes
    Hui Qi Qu
    Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada
    Diabetes 57:1983-6. 2008
    ..To search for a possible association of type 1 diabetes with 10 validated type 2 diabetes loci, i.e., PPARG, KCNJ11, WFS1, HNF1B, IDE/HHEX, SLC30A8, CDKAL1, CDKN2A/B, IGF2BP2, and FTO/RPGRIP1L...
  15. doi Pancreatic islet cell phenotype and endocrine function throughout diabetes development in non-obese diabetic mice
    Mara Kornete
    Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada
    Autoimmunity 46:259-68. 2013
    ..Moreover, we show that CD4(+)T cell-mediated inflammation correlates with the emergence of this insulin-producing beta cell-like cell...
  16. ncbi Proinsulin expression by Hassall's corpuscles in the mouse thymus
    Aziz Alami Chentoufi
    Endocrine Genetics Laboratory, McGill University Health Center Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Diabetes 53:354-9. 2004
    ....
  17. ncbi RFX6 is needed for the development and maintenance of the β-cell phenotype
    Nadine Taleb
    Departments of Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada
    Islets 3:291-3. 2011
    ..Extensive research is needed to specify this role and explore its significance in the efforts to treat diabetes with medications, or more importantly, through β-cell replacement...
  18. ncbi Cell culture-induced aberrant methylation of the imprinted IG DMR in human lymphoblastoid cell lines
    Aabida Saferali
    Department of Human Genetics, McGill University, Montreal, QC, Canada
    Epigenetics 5:50-60. 2010
    ..We conclude that non-transformed primary cells may be less susceptible to epigenetic anomalies and therefore may provide a more accurate reflection of gene expression in vivo...
  19. pmc Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas
    Hui Qi Qu
    Montreal Children s Hospital, 2300 Tupper, Montreal, Que, Canada, H3H 1P3
    Neuro Oncol 12:153-63. 2010
    ..It further shows that, despite commonalities in a few CNAs, pGBM and aGBMs are two different diseases...
  20. ncbi Parental genomic imprinting in endocrinopathies
    Constantin Polychronakos
    Division of Endocrinology, Department of Pediatrics, McGill University, Montreal, Quebec, Canada
    Eur J Endocrinol 147:561-9. 2002
    ..Involvement of imprinted genes affecting birth weight and causing susceptibility to type 1 diabetes is under investigation. Recent knowledge about the varied molecular mechanisms involved will be outlined...
  21. ncbi Safety profile of frequent short courses of oral glucocorticoids in acute pediatric asthma: impact on bone metabolism, bone density, and adrenal function
    Francine M Ducharme
    Department of Pediatrics and Epidemiology, Montreal Children s Hospital, McGill University Health Centre, Montreal, Quebec, Canada
    Pediatrics 111:376-83. 2003
    ..Our study was designed to establish in children with asthma the safety profile of repeated short courses of oral glucocorticoids on bone mineralization and metabolism and adrenal function...
  22. ncbi Impact of the human genome project on pediatric endocrinology
    Constantin Polychronakos
    Department of Pediatrics, McGill University Health Center, Montreal, Canada
    Horm Res 59:55-65. 2003
    ..Finally, the question is raised of social and ethical issues that these developments are generating...
  23. ncbi New insights into the genetics of neonatal diabetes
    Constantin Polychronakos
    Department of Pediatrics, McGill University Health Center, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3
    Rev Endocr Metab Disord 4:19-22. 2003
  24. ncbi Genetic variation and health; towards individualized medicine
    Constantin Polychronakos
    Department of Pediatrics, Division of Endocrinology, McGill University Health Center, Canada
    Pediatr Endocrinol Rev 1:540-4. 2004
    ....
  25. ncbi Mechanisms of genetic susceptibility to type I diabetes: beyond HLA
    Suzana Anjos
    Endocrine Genetics Laboratory, Department of Pediatrics, Division of Pediatric Endocrinology, McGill University Health Sciences Center, Montreal, Quebec, Canada
    Mol Genet Metab 81:187-95. 2004
    ..This review details the latest efforts in elucidating the functional mechanisms that explain the genetic association of the INS-VNTR and CTLA-4 genes with T1D...
  26. doi Functional characterization of the Thr946Ala SNP at the type 1 diabetes IFIH1 locus
    Hana Zouk
    Endocrine Genetics Laboratory, McGill University Health Center, Montreal Children s Hospital Research Institute, McGill University, Montreal, Canada
    Autoimmunity 47:40-5. 2014
    ..Additionally, the possibility that this nsSNP recognizes viral dsRNA specificities cannot be ruled out. Thus, the mechanism of the observed association of this SNP with T1D remains to be determined...
  27. ncbi Animal models of spontaneous autoimmune diabetes: notes on their relevance to the human disease
    Constantin Polychronakos
    Departments of Pediatrics and Human Genetics, McGill University Health Center, 2300 1 Tupper Street, Montreal, Quebec H3H 1P3, Canada
    Curr Diab Rep 4:151-4. 2004
    ..Research strategies to address this problem will require more attention to immune subphenotypes or their corresponding subgenotypes in the human and, possibly, the generation of additional mouse models of spontaneous disease...
  28. ncbi The insulin-like growth factor-II receptor gene is associated with type 1 diabetes: evidence of a maternal effect
    Jennifer A McCann
    Department of Pediatrics, McGill University Health Center Children s Hospital, 2300 Tupper, Suite C244, Montreal, Quebec, Canada H3H 1P3
    J Clin Endocrinol Metab 89:5700-6. 2004
    ..Thus, we present evidence that maternal alleles at an IGF2R polymorphism are associated with T1D. It is thus possible that at some tissue or developmental stage not yet examined, IGF2R is universally imprinted...
  29. doi Compensatory beliefs about glucose testing are associated with low adherence to treatment and poor metabolic control in adolescents with type 1 diabetes
    Marjorie A Rabiau
    Department of Psychology, McGill University, Montreal, Quebec, Canada
    Health Educ Res 24:890-6. 2009
    ..Addressing CBs in diabetes education, in particular targeting those concerning glucose testing, could improve the adherence to treatment and thereby the long-term health of people with diabetes...
  30. pmc Functional evaluation of the role of C-type lectin domain family 16A at the chromosome 16p13 locus
    H Zouk
    Endocrine Genetics Laboratory, McGill University Health Center, Montreal Children s Hospital Research Institute, McGill University, QC, Montreal, Canada Department of Human Genetics, McGill University, QC, Montreal, Canada
    Clin Exp Immunol 175:485-97. 2014
    ..In conclusion, CLEC16A may not be involved in T cell co-stimulation. Additional studies on CLEC16A, accounting for its ER localization, are needed to uncover its biological role. ..
  31. ncbi New applications of microarray data analysis: integrating genetics with 'Omics'. Organized by the Cambridge Healthtech Institute, 15-17 August 2007, Washington DC, USA
    Constantin Polychronakos
    McGill University Health Centre, 2300 Tupper, Montreal, Quebec, H3H 1P3, Canada
    Pharmacogenomics 9:15-7. 2008
  32. ncbi Common and rare alleles as causes of complex phenotypes
    Constantin Polychronakos
    Montreal Children s Hospital, 2300 Tupper Street, Suite C244, Montreal, Quebec, H3H 1P3, Canada
    Curr Atheroscler Rep 10:194-200. 2008
    ..Because the models are not mutually exclusive, the question should be not which model is correct, but rather what is the relative contribution of each, which is something that may vary dramatically among traits...
  33. ncbi Evaluation of conventional blood glucose monitoring as an indicator of integrated glucose values using a continuous subcutaneous sensor
    Samara R Zavalkoff
    Department of Pediatrics, Division of Pediatric Endocrinology, McGill University Health Center, Montreal Children s Hospital, Montreal, Quebec, Canada
    Diabetes Care 25:1603-6. 2002
    ....
  34. doi Somatic point mutations occurring early in development: a monozygotic twin study
    Rui Li
    Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, Quebec, Canada
    J Med Genet 51:28-34. 2014
    ....
  35. doi Gene expression as a quantitative trait: what about translation?
    Constantin Polychronakos
    The Endocrine Genetics Laboratory, Departments of Pediatrics and Human Genetics, The Research Institute of the McGill University Health Centre, The Montreal Children s Hospital, Montreal, Quebec, Canada
    J Med Genet 49:554-7. 2012
    ..However, mRNA is only a proxy for what matters in phenotypic variation, which is protein level. We set out to review the evidence for exonic polymorphisms that affect translation of mRNA...
  36. pmc Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms
    Hui Qi Qu
    Endocrine Genetics Laboratory, The McGill University Health Center, Montreal Children s Hospital, Montreal, Quebec, Canada
    BMC Genomics 7:213. 2006
    ..Here we studied asymmetry of human synonymous SNPs (sSNPs) in the fourfold degenerate (FFD) sites as compared to intronic SNPs (iSNPs)...
  37. ncbi Insulin expression levels in the thymus modulate insulin-specific autoreactive T-cell tolerance: the mechanism by which the IDDM2 locus may predispose to diabetes
    Aziz Alami Chentoufi
    Endocrine Genetics Laboratory, McGill University Health Center, Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Diabetes 51:1383-90. 2002
    ..We conclude that thymic insulin levels play a pivotal role in insulin-specific T-cell self-tolerance, a relation that provides an explanation for the mechanism by which the IDDM2 locus predisposes to or protects from diabetes...