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1. Full Text Fine points in mapping autoimmunity
by Polychronakos, Constantin
Nature Genetics, ISSN 1061-4036, 12/2011, Volume 43, Issue 12, pp. 1173 - 1174
An efficient way to design genotyping arrays for fine mapping is to group phenotypes with common biology. The first application of the Immunochip to celiac... 
DISEASES | GENETICS & HEREDITY | Celiac Disease - genetics | Humans | Polymorphism, Single Nucleotide | Autoimmunity | Celiac disease | Genetic aspects | Research | Single nucleotide polymorphisms | Risk factors | Studies | Genomes | Disease | Index Medicus
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2. Full Text Public funding for genomics: where does Canada stand?
by Polychronakos, Constantin
Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 481 - 482
  The terms of reference made it clear that this is a call for proposals with a very strong utilitarian angle, 'capable of concrete deliverables by the end of... 
GENETICS & HEREDITY | Canada | Decision Making, Organizational | Genomics - organization & administration | Humans | Precision Medicine - economics | Genomics - economics | Genome, Human | National Health Programs | Public Health - economics | Health Policy - economics | Research Support as Topic | Usage | Expenditures, Public | Genomics | Finance | Science | Genomes | Funding | Index Medicus
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3. Full Text Diabetes in the post-GWAS era
by Polychronakos, Constantin and Alriyami, Maha
Nature Genetics, ISSN 1061-4036, 12/2015, Volume 47, Issue 12, pp. 1373 - 1374
Large sample sizes, high-resolution arrays and comprehensive imputation are pushing genetic fine-mapping of complex trait loci to its limits without, in most... 
VARIANTS | GENETICS & HEREDITY | Receptor, Melatonin, MT2 - genetics | Genetic Predisposition to Disease | Hepatocyte Nuclear Factor 3-beta - genetics | Diabetes Mellitus, Type 2 - genetics | Humans | Polymorphism, Single Nucleotide - genetics | Chromosome Mapping | Genetic Loci | Type 2 diabetes | Genome-wide association studies | Development and progression | Genetic aspects | Single nucleotide polymorphisms | Identification and classification | Health aspects | Methods | Insulin resistance | Genomes | Diabetes | Metabolism | Genes | Binding sites | Index Medicus
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4. Full Text Unique author identifier; what are we waiting for?
by Polychronakos, Constantin
Journal of Medical Genetics, ISSN 0022-2593, 02/2012, Volume 49, Issue 2, pp. 75 - 75
GENETICS & HEREDITY | Authorship | Humans | Index Medicus
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5. Full Text Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus
by Lenet, Stephanie and Polychronakos, Constantin
BMJ Case Reports, ISSN 1757-790X, 06/2019, Volume 12, Issue 6, p. e229032
A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures.... 
endocrine system | congenital disorders | genetics | pituitary disorders | endocrinology | Urine | Puberty | Pediatrics | Medical imaging | Kinases | Proteins | Case studies | Testosterone | Ostomy | Cell cycle | Growth hormones | Diabetes | Mutation | Physical growth | Drug dosages | Endocrinology
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6. Full Text Special issue on structural genomic alterations: Ready for prime time
by Polychronakos, Constantin
Journal of Medical Genetics, ISSN 0022-2593, 05/2011, Volume 48, Issue 5, pp. 289 - 289
GENETICS & HEREDITY | Genomic Structural Variation - genetics | Humans | Chromosome Aberrations | Index Medicus
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7. Full Text Self-antigen expression in thymic epithelial cells in Ifn-[gamma] or Tnf-[alpha] deficiency
by Levi, Dina and Polychronakos, Constantin
Cytokine, ISSN 1043-4666, 06/2013, Volume 62, Issue 3, p. 433
acents Expression of insulin in thymus is needed for self-tolerance. acents In vitro, we have shown that Ifn-[gamma] or Tnf-[alpha] upregulate this expression.... 
Autoimmunity | Tumor necrosis factor | Autoantigens | Interferon
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8. Full Text Insulin expression levels in the thymus modulate insulin-specific autoreactive T-cell tolerance: The mechanism by which the IDDM2 locus may predispose to diabetes
by Chentoufi, Aziz Alami and Polychronakos, Constantin
Diabetes, ISSN 0012-1797, 2002, Volume 51, Issue 5, pp. 1383 - 1390
Type 1 diabetes results from autoimmune destruction of the insulin-producing pancreatic P-cells. Evidence from our laboratory and others has suggested that the... 
MYELIN BASIC-PROTEIN | VIRUS-INFECTION | GENES | ENDOCRINOLOGY & METABOLISM | AUTOANTIGEN | MICE | MELLITUS | PROINSULIN | MODEL | SELECTION | ANTIGEN | Genetic Predisposition to Disease | Insulin - immunology | Thymus Gland - cytology | Diabetes Mellitus, Type 1 - genetics | Islets of Langerhans - immunology | Proinsulin - genetics | Gene Dosage | Mice, Knockout | Animals | Immune Tolerance - immunology | Immune Tolerance - genetics | T-Lymphocytes - immunology | Thymus Gland - immunology | Mice | Diabetes Mellitus, Type 1 - immunology | Insulin - genetics | Disease Models, Animal | Proinsulin - immunology | Type 1 diabetes | Disease susceptibility | Research | Index Medicus | Abridged Index Medicus
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9. Full Text Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
by Froguel, Philippe and Lobbens, Stéphane and Elliott, Paul and Sladek, Rob and Levy-Marchal, Claire and Balkau, Beverley and Polychronakos, Constantin and Gallina, Sophie and Proença, Christine and Meyre, David and Vatin, Vincent and Delplanque, Jérôme and Potoczna, Natascha and Kovacs, Peter and Tauber, Maithé and Järvelin, Marjo-Riitta and Marre, Michel and Weill, Jacques and Walley, Andrew and Degraeve, Franck and Horber, Fritz and Hercberg, Serge and Tichet, Jean and Coin, Lachlan J M and Dina, Christian and Körner, Antje and Lecoeur, Cécile and Hartikainen, Anna-Liisa and Asher, Julian and McCarthy, Mark I and Montpetit, Alexandre and Gaget, Stefan and Durand, Emmanuelle and Balding, David and Heude, Barbara and Blakemore, Alexandra I F and Kiess, Wieland and Pattou, François and Chèvre, Jean-Claude and Visvikis-Siest, Sophie
Nature Genetics, ISSN 1061-4036, 02/2009, Volume 41, Issue 2, pp. 157 - 159
We analyzed genome-wide association data from 1,380 Europeans with early-onset and morbid adult obesity and 1,416 age-matched normal-weight controls.... 
MICE | PROTEIN | C-DISEASE | EXPRESSION | GENETICS & HEREDITY | CHOLESTEROL TRAFFICKING | Genetic Predisposition to Disease | Genome-Wide Association Study | Gene Frequency | Humans | Proto-Oncogene Proteins c-maf - genetics | Risk Factors | Europe - epidemiology | Alpha-Ketoglutarate-Dependent Dioxygenase FTO | Receptor, Melanocortin, Type 4 - genetics | Case-Control Studies | Membrane Glycoproteins - genetics | Proteins - genetics | Carrier Proteins - genetics | Obesity, Morbid - genetics | Age of Onset | Adult | Population | Polymorphism, Single Nucleotide | Quantitative Trait Loci | Child | Obesity, Morbid - epidemiology | Obesity | Genetic aspects | Adults | Research | Single nucleotide polymorphisms | Health aspects | Risk factors | Gene loci | Genetic testing | Index Medicus | Life Sciences
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10. Full Text Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia
by Elliott, Paul and Järvelin, Marjo-Riitta and Charpentier, Guillaume and Lauritzen, Torsten and Poulsen, Pernille and Polychronakos, Constantin and Wojtaszewski, Jørgen F P and Belisle, Alexandre and Hadjadj, Samy and Durand, Emmanuelle and Rocheleau, Ghislain and Ribel-Madsen, Rasmus and Cauchi, Stéphane and Dina, Christian and Tichet, Jean and Sladek, Robert and Mazur, Alexander and Borch-Johnsen, Knut and Rung, Johan and Bacot, François and Froguel, Philippe and Meyre, David and Ruokonen, Aimo and Pedersen, Oluf and Pisinger, Charlotta and Prentki, Marc and Albrechtsen, Anders and Sandbaek, Anelli and Posner, Barry and Vaag, Allan and Marre, Michel and Laitinen, Jaana and Montpetit, Alexandre and Shen, Lishuang and Vaxillaire, Martine and Hansen, Torben and Pouta, Anneli and Balkau, Beverley and Serre, David and Cavalcanti-Proença, Christine
Nature Genetics, ISSN 1061-4036, 10/2009, Volume 41, Issue 10, pp. 1110 - 1115
Genome-wide association studies have identified common variants that only partially explain the genetic risk for type 2 diabetes (T2D). Using genome-wide... 
RISK LOCI | DISRUPTION | PROSTATE-CANCER | GENETICS & HEREDITY | MUSCLE GLYCOGEN-SYNTHASE | SUSCEPTIBILITY LOCI | BETA-CELL | MICE | MELLITUS | GENOME-WIDE ASSOCIATION | RECEPTOR SUBSTRATE-1 GENE | Hyperinsulinism - metabolism | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Hyperinsulinism - complications | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Insulin Resistance | Male | Muscle, Skeletal - metabolism | Phosphatidylinositol 3-Kinases - metabolism | Diabetes Mellitus, Type 2 - metabolism | Hyperinsulinism - pathology | Biopsy | Alleles | Hyperinsulinism - genetics | Adult | Female | Polymorphism, Single Nucleotide | Diabetes Mellitus, Type 2 - pathology | Muscle, Skeletal - pathology | Genome, Human | Insulin Receptor Substrate Proteins - genetics | Diabetes Mellitus, Type 2 - complications | Type 2 diabetes | Phosphatidylinositol | Physiological aspects | Insulin resistance | Genetic aspects | Research | Single nucleotide polymorphisms | Risk factors | Genetics | Hyperglycemia | Hospitals | Bank management | Grants | Metabolic disorders | Index Medicus
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11. Full Text Effect of autoimmunity risk loci on the honeymoon phase in type 1 diabetes
by Moosavi, Mandana and Séguin, Jade and Polychronakos, Constantin
Pediatric Diabetes, ISSN 1399-543X, 09/2017, Volume 18, Issue 6, pp. 459 - 462
Objective: To analyze the correlation between duration and depth of honeymoon phase in patients with type 1 diabetes (T1DM) and autoimmunity risk loci.... 
polymorphism | insulin | diabetes | quantitative trait | DEFINITION | PTGER4 | DISEASE | PERIOD | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | EXPRESSION | CHILDREN | Hypoglycemic Agents - therapeutic use | Humans | Diabetes Mellitus, Type 1 - genetics | Diabetes Mellitus, Type 1 - immunology | Child | Remission Induction | Insulin - therapeutic use | Diabetes Mellitus, Type 1 - drug therapy | Autoimmunity | Single nucleotide polymorphisms | Type 1 diabetes | Gastrointestinal diseases | Genomics | NF-κB protein | Inflammatory bowel diseases | Diabetes mellitus | Genomes | Single-nucleotide polymorphism | Chromosome 5 | Beta cells | Quantitative trait loci | Genotyping | Intestine | Diabetes | Gene mapping | Autoimmune diseases | Polymorphism | Index Medicus
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12. Full Text Effect of autoimmunity risk loci on the honeymoon phase in type 1 diabetes
: Moosavi et al
by Moosavi, Mandana and Séguin, Jade and Polychronakos, Constantin
Pediatric Diabetes, ISSN 1399-543X, 09/2017, Volume 18, Issue 6, pp. 459 - 462
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13. Full Text Rfx6 directs islet formation and insulin production in mice and humans
by Weill, Jacques and Hansen, Inger and Wang, Rennian and Grabs, Rosemary and Miyatsuka, Takeshi and Désir, Julie and Renard, Marie-Ève and Johnson, Jeffrey D and Gentile, Mattia and Lu, Yang and Hattersley, Andrew T and Scheel, David W and German, Michael S and Seerke, Rina and Lynn, Francis C and Wilson, Maria E and Eijnden, Serge Vanden and Wang, Juehu and Kacet, Nadine and Abramowicz, Marc and Mitchell, John and Dewar, Ken and Polychronakos, Constantin and Smith, Stuart B and Qu, Hui-Qi and Kishimoto, Nina Y and Patch, Ann-Marie and Taleb, Nadine
Nature, ISSN 0028-0836, 02/2010, Volume 463, Issue 7282, pp. 775 - 780
Insulin from the beta-cells of the pancreatic islets of Langerhans controls energy homeostasis in vertebrates, and its deficiency causes diabetes mellitus.... 
ENDOCRINE PANCREAS | AUTOSOMAL RECESSIVE SYNDROME | DNA-BINDING | MULTIDISCIPLINARY SCIENCES | CONGENITAL MALABSORPTIVE DIARRHEA | MUTANT NEUROGENIN-3 | CELL-DIFFERENTIATION | EXPRESSION | GENOME-WIDE ASSOCIATION | PRIMARY CILIA | REVEALS | Diabetes Mellitus - pathology | NIH 3T3 Cells | Genetic Testing | Diabetes Mellitus - genetics | Genes, Recessive - genetics | Humans | Nerve Tissue Proteins - deficiency | Transcription Factors - deficiency | Fetus - metabolism | Male | Gene Expression Profiling | Insulin - biosynthesis | DNA-Binding Proteins - deficiency | Embryo, Mammalian - metabolism | DNA-Binding Proteins - metabolism | Basic Helix-Loop-Helix Transcription Factors - metabolism | DNA Mutational Analysis | Gene Expression Regulation, Developmental | Islets of Langerhans - metabolism | Islets of Langerhans - cytology | Female | Cell Differentiation | Basic Helix-Loop-Helix Transcription Factors - deficiency | Infant, Newborn | Basic Helix-Loop-Helix Transcription Factors - genetics | Diabetes Mellitus - congenital | Diabetes Mellitus - metabolism | Islets of Langerhans - embryology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Organ Specificity | Nerve Tissue Proteins - genetics | Regulatory Factor X Transcription Factors | Syndrome | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Animals | Mice | Causes of | Embryonic development | Care and treatment | Genetic aspects | Diabetes | Binding proteins | Human subjects | Proteins | Stem cells | Artificial chromosomes | Mutation | Gene expression | Index Medicus
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14. Full Text A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci
by Bradfield, Jonathan P and Qu, Hui-Qi and Wang, Kai and Zhang, Haitao and Sleiman, Patrick M and Kim, Cecilia E and Mentch, Frank D and Qiu, Haijun and Glessner, Joseph T and Thomas, Kelly A and Frackelton, Edward C and Chiavacci, Rosetta M and Imielinski, Marcin and Monos, Dimitri S and Pandey, Rahul and Bakay, Marina and Grant, Struan F. A and Polychronakos, Constantin and Hakonarson, Hakon
PLoS Genetics, ISSN 1553-7390, 09/2011, Volume 7, Issue 9, pp. e1002293 - e1002293
Diabetes impacts approximately 200 million people worldwide, of whom approximately 10% are affected by type 1 diabetes (T1D). The application of genome-wide... 
HUMAN HEIGHT | RISK LOCI | REPLICATION | INSULIN GENE | GENETICS & HEREDITY | FOLLOW-UP | FUNCTIONAL VARIANT | BETA-CELL | SUSCEPTIBILITY LOCUS | LYMPHOID TYROSINE PHOSPHATASE | AUTOIMMUNE-DISEASE | DNA, Intergenic | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Diabetes Mellitus, Type 1 - genetics | Male | Genetic Loci | Transcription Factors - genetics | Linkage Disequilibrium | Sequence Homology | Polymorphism, Single Nucleotide - genetics | Female | LIM Domain Proteins - genetics | Cohort Studies | Complications and side effects | Type 1 diabetes | Genetic aspects | Single nucleotide polymorphisms | Research | Cardiovascular diseases | Risk factors | Index Medicus | Disease | Genomics | Genetics | Genomes | Diabetes | Kidney diseases | Chromosomes | Meta-analysis
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15. Full Text Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases
by Li, Yun R and Li, Jin and Zhao, Sihai D and Bradfield, Jonathan P and Mentch, Frank D and Maggadottir, S Melkorka and Hou, Cuiping and Abrams, Debra J and Chang, Diana and Gao, Feng and Guo, Yiran and Wei, Zhi and Connolly, John J and Cardinale, Christopher J and Bakay, Marina and Glessner, Joseph T and Li, Dong and Kao, Charlly and Thomas, Kelly A and Qiu, Haijun and Chiavacci, Rosetta M and Kim, Cecilia E and Wang, Fengxiang and Snyder, James and Richie, Marylyn D and Flatø, Berit and Førre, øystein and Denson, Lee A and Thompson, Susan D and Becker, Mara L and Guthery, Stephen L and Latiano, Anna and Perez, Elena and Resnick, Elena and Russell, Richard K and Wilson, David C and Silverberg, Mark S and Annese, Vito and Lie, Benedicte A and Punaro, Marilynn and Dubinsky, Marla C and Monos, Dimitri S and Strisciuglio, Caterina and Staiano, Annamaria and Miele, Erasmo and Kugathasan, Subra and Ellis, Justine A and Munro, Jane E and Sullivan, Kathleen E and Wise, Carol A and Chapel, Helen and Cunningham-Rundles, Charlotte and Grant, Struan F.A and Orange, Jordan S and Sleiman, Patrick M.A and Behrens, Edward M and Griffiths, Anne M and Satsangi, Jack and Finkel, Terri H and Keinan, Alon and Prak, Eline T Luning and Polychronakos, Constantin and Baldassano, Robert N and Li, Hongzhe and Keating, Brendan J and Hakonarson, Hakon
Nature Medicine, ISSN 1078-8956, 09/2015, Volume 21, Issue 9, pp. 1018 - 1027
Genome-wide association studies (GWASs) have identified hundreds of susceptibility genes, including shared associations across clinically distinct autoimmune... 
RHEUMATOID-ARTHRITIS | MEDICINE, RESEARCH & EXPERIMENTAL | SYSTEMIC-LUPUS-ERYTHEMATOSUS | CROHNS-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | JUVENILE IDIOPATHIC ARTHRITIS | SUSCEPTIBILITY LOCI | ELECTRONIC MEDICAL-RECORDS | ONSET ANKYLOSING-SPONDYLITIS | CELL BIOLOGY | RISK LOCI | GENOTYPE IMPUTATION | GENOME-WIDE ASSOCIATION | Autoimmune Diseases - genetics | Genome-Wide Association Study | Humans | Risk Factors | Polymorphism, Single Nucleotide | Autoimmune Diseases - etiology | Quantitative Trait Loci | Child | Genomics | Analysis | Genetic aspects | Research | Single nucleotide polymorphisms | Children | Risk factors | Diseases | Pediatrics | Genetics | Autoimmune diseases | Meta-analysis | Index Medicus
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