Publications by authors named "Constantin Polychronakos"

100Publications

tRNA methyltransferase 10 homologue A () mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly.

BMJ Open Diabetes Res Care 2020 10;8(1)

Department of Endocrinology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang Province, China

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October 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sebire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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October 2020

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.

Diabetes 2020 04 31;69(4):784-795. Epub 2020 Jan 31.

Centre for Clinical Epidemiology, Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, Quebec, Canada

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April 2020

Clonal copy-number mosaicism in autoreactive T lymphocytes in diabetic NOD mice.

Genome Res 2019 12 6;29(12):1951-1961. Epub 2019 Nov 6.

The Endocrine Genetics Laboratory, Child Health and Human Development Program and Department of Pediatrics, McGill University Health Centre Research Institute, Montreal, Quebec H3H 1P3, Canada.

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December 2019

The common, autoimmunity-predisposing 620Arg > Trp variant of PTPN22 modulates macrophage function and morphology.

J Autoimmun 2017 May 22;79:74-83. Epub 2017 Feb 22.

Research Institute of McGill University Health Centre, Child Health and Human Development Program, 1001 Decarie Boulevard, Montreal, QC H4A 3J1, Canada. Electronic address:

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May 2017

Effect of autoimmunity risk loci on the honeymoon phase in type 1 diabetes.

Pediatr Diabetes 2017 Sep 9;18(6):459-462. Epub 2016 Aug 9.

Department of Pediatrics, McGill University, Montreal, Canada.

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September 2017

Diabetes in the post-GWAS era.

Nat Genet 2015 Dec;47(12):1373-4

The Endocrine Genetics Laboratory, Child Health and Human Development Program and Department of Pediatrics, McGill University Health Centre Research Institute, Montreal, Quebec, Canada.

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December 2015

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

CMAJ 2015 Feb 19;187(2):E68-E73. Epub 2015 Jan 19.

Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children's Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children's Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.

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February 2015

One year remission of type 1 diabetes mellitus in a patient treated with sitagliptin.

Endocrinol Diabetes Metab Case Rep 2014 1;2014:140072. Epub 2014 Sep 1.

Departments of Paediatrics and Human Genetics , McGill University Health Centre , Montreal, Quebec , Canada.

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October 2014

Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes.

PLoS One 2014 19;9(8):e104452. Epub 2014 Aug 19.

Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, The University of Texas School of Public Health, Houston, Texas, United States of America.

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October 2015

Somatic point mutations occurring early in development: a monozygotic twin study.

J Med Genet 2014 Jan 11;51(1):28-34. Epub 2013 Oct 11.

Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, Quebec, Canada.

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January 2014

Functional characterization of the Thr946Ala SNP at the type 1 diabetes IFIH1 locus.

Autoimmunity 2014 Feb 14;47(1):40-5. Epub 2013 Oct 14.

Endocrine Genetics Laboratory, McGill University Health Center, Montreal Children's Hospital Research Institute, McGill University , Montreal , Canada .

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February 2014

Expression profile of a clonal insulin-expressing epithelial cell in the thymus.

Mol Immunol 2013 Dec 23;56(4):804-10. Epub 2013 Aug 23.

Endocrine Genetics, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada.

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December 2013

Yeast one-hybrid screen of a thymus epithelial library identifies ZBTB7A as a regulator of thymic insulin expression.

Mol Immunol 2013 Dec 1;56(4):637-42. Epub 2013 Aug 1.

Laboratory of Endocrine Genetics, Department of Pediatrics, The McGill University Health Center, 4060 Ste-Catherine West, Montreal, Quebec, Canada H3Z 2Z3.

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December 2013

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Hum Genet 2013 Oct 3;132(10):1077-130. Epub 2013 Jul 3.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK,

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October 2013

Self-antigen expression in thymic epithelial cells in Ifn-γ or Tnf-α deficiency.

Cytokine 2013 Jun 15;62(3):433-8. Epub 2013 Apr 15.

Endocrine Genetics, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada.

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June 2013

Pancreatic islet cell phenotype and endocrine function throughout diabetes development in non-obese diabetic mice.

Autoimmunity 2013 Jun 4;46(4):259-68. Epub 2013 Feb 4.

Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada.

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June 2013

Gene expression as a quantitative trait: what about translation?

J Med Genet 2012 Sep;49(9):554-7

The Endocrine Genetics Laboratory, Departments of Pediatrics and Human Genetics, the Research Institute of the McGill University Health Centre, The Montreal Children's Hospital, Montréal, Québec, Canada.

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September 2012

Public funding for genomics: where does Canada stand?

J Med Genet 2012 Aug;49(8):481-2

Department of Pediatrics/Human Genetics, The McGill University Health Centre, 2300 Tupper Street, Montreal QC H3H 1P3, Canada.

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August 2012

Overexpression of ZAC impairs glucose-stimulated insulin translation and secretion in clonal pancreatic beta-cells.

Diabetes Metab Res Rev 2012 Nov;28(8):645-53

Division of Pediatric Endocrinology, McGill University Health Center Research Institute (Children's Hospital), Montreal, QC, Canada.

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November 2012

The effect of type 2 diabetes risk loci on insulin requirements in type 1 diabetes.

Horm Res Paediatr 2012 15;77(5):305-8. Epub 2012 May 15.

Departments of Paediatrics and Human Genetics, McGill University Health Centre, Montreal, Que., Canada.

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November 2012

Screening for novel lead compounds increasing insulin expression in medullary thymic epithelial cells.

Eur J Pharmacol 2012 Aug 3;688(1-3):84-9. Epub 2012 Apr 3.

Beijing Key Laboratory of Drug Targets Identification and Drug Screening, Institute of Materia Medica, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

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August 2012

Exome sequencing: dual role as a discovery and diagnostic tool.

Ann Neurol 2012 Jan;71(1):5-14

Cancer Science Institute of Singapore, National University of Singapore, Singapore.

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January 2012

Unique author identifier; what are we waiting for?

J Med Genet 2012 Feb;49(2):75

Endocrine Genetics Laboratory, McGill University health Centre, Montreal, Quebec, Canada.

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February 2012

Fine points in mapping autoimmunity.

Nat Genet 2011 Nov 28;43(12):1173-4. Epub 2011 Nov 28.

Endocrine Genetics Laboratory, Research Institute of the McGill University Health Centre, The Montreal Children’s Hospital, Québec, Canada.

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November 2011

Understanding type 1 diabetes through genetics: advances and prospects.

Nat Rev Genet 2011 Oct 18;12(11):781-92. Epub 2011 Oct 18.

Departments of Pediatrics and Human Genetics, McGill University, Montreal, Québec, Canada H3H 1P3. Constantin.

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October 2011

RFX6 is needed for the development and maintenance of the β-cell phenotype.

Islets 2011 Sep-Oct;3(5):291-3. Epub 2011 Sep 1.

Departments of Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada.

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January 2012

Differential expression pattern of ZAC in developing mouse and human pancreas.

J Mol Histol 2011 Apr 9;42(2):129-36. Epub 2011 Feb 9.

Division of Pediatric Endocrinology, McGill University Health Centre Research Institute, Children's Hospital, 4060 St. Catherine west, PT-414, Montreal, QC, H3Z 2Z3, Canada.

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April 2011

Study of transcriptional effects in Cis at the IFIH1 locus.

PLoS One 2010 Jul 13;5(7):e11564. Epub 2010 Jul 13.

Endocrine Genetics Laboratory, McGill University Health Center, Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada.

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July 2010

Zeroing in on the target.

Pediatr Diabetes 2010 Feb;11(1):2-3

Department of Paediatrics and Human, McGill University Health Center (Children's Hospital), Montréal, QC, Canada, H3H 1P3.

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February 2010

A cis-acting regulatory variant in the IL2RA locus.

J Immunol 2009 Oct 30;183(8):5158-62. Epub 2009 Sep 30.

Endocrine Genetics Lab, The McGill University Health Center and Montreal Children's Hospital, Montréal, Québec, Canada.

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October 2009

Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans.

Hum Genet 2009 Apr 29;125(3):305-18. Epub 2009 Jan 29.

Laval Hospital Research Center, Laval University, Pavillon Margeritte-d'Youville, chemin Sainte-Foy, Quebec, QC, Canada.

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April 2009

Insulin auto-immunity: implications for the prevention of Type 1 diabetes mellitus.

Expert Rev Clin Immunol 2009 Jan;5(1):55-62

Department of Pediatrics, Division of Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Center, 2300 rue Tupper, Montreal, QC H3H1P3, Canada.

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January 2009

Common and rare alleles as causes of complex phenotypes.

Curr Atheroscler Rep 2008 Jun;10(3):194-200

Montreal Children's Hospital, 2300 Tupper Street, Suite C244, Montreal, Quebec, H3H 1P3, Canada.

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June 2008

The molecular genetics of type 1 diabetes: new genes and emerging mechanisms.

Trends Mol Med 2008 Jun 14;14(6):268-75. Epub 2008 May 14.

Endocrine Genetics Laboratory, McGill University Health Center, Montreal Children's Hospital Research Institute, 2300 Tupper, Montréal, Québec H3H 1P3, Canada.

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June 2008

Association analysis of type 2 diabetes Loci in type 1 diabetes.

Diabetes 2008 Jul 21;57(7):1983-6. Epub 2008 Apr 21.

Departments of Pediatrics and Human Genetics, McGill University, Montreal, Québec, Canada.

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July 2008

The TCF7L2 locus and type 1 diabetes.

BMC Med Genet 2007 Aug 3;8:51. Epub 2007 Aug 3.

Endocrine Genetics Lab, The McGill University Health Center, Montreal Children's Hospital, Montréal, Québec, Canada.

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August 2007

Toward further mapping of the association between the IL2RA locus and type 1 diabetes.

Diabetes 2007 Apr;56(4):1174-6

Endocrine Genetics Laboratory, McGill University Health Center (Montréal Children's Hospital), Montréal, Québec, Canada.

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April 2007

Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes.

Diabetes 2007 Mar;56(3):709-13

Endocrine Genetics Laboratory, McGill University Health Center, Montreal, Quebec, Canada H3H 1P3.

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March 2007

No association of type 1 diabetes with a functional polymorphism of the LRAP gene.

Mol Immunol 2007 Mar 28;44(8):2135-8. Epub 2006 Nov 28.

Endocrine Genetics Laboratory, The McGill University Health Center, Montreal Children's Hospital, 2300 Tupper, Montréal, Que. H3H 1P3, Canada.

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March 2007

Genetic testing in clinical endocrinology.

Hormones (Athens) 2003 Oct-Dec;2(4):201-10

Endocrine Genetics Laboratory, McGill University Health Center, Children's Hospital, Montréal, Québec, Canada.

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June 2007

Isolation and characterization of proinsulin-producing medullary thymic epithelial cell clones.

Diabetes 2006 Sep;55(9):2595-601

McGill University Health Center, Montreal Children's Hospital, Research Institute, Montreal, Quebec, Canada H3H 1P3.

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September 2006

Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms.

BMC Genomics 2006 Aug 17;7:213. Epub 2006 Aug 17.

Endocrine Genetics Laboratory, The McGill University Health Center, Montreal Children's Hospital, Montréal, Québec, Canada.

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August 2006

Functional evaluation of the autoimmunity-associated CTLA4 gene: the effect of the (AT) repeat in the 3'untranslated region (UTR).

J Autoimmun 2006 Sep 7;27(2):105-9. Epub 2006 Aug 7.

Department of Pediatrics, Division of Pediatric Endocrinology, McGill University Health Center, Montreal Children's Hospital, 2300 Tupper, Montreal, QC, Canada H3H 1P3.

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September 2006

Genetic variation and health; towards individualized medicine.

Pediatr Endocrinol Rev 2004 Aug;1 Suppl 3:540-4

Department of Pediatrics, Division of Endocrinology, McGill University Health Center, Canada.

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August 2004

Monogenic and other unusual causes of diabetes mellitus.

Pediatr Clin North Am 2005 Dec;52(6):1637-50

Department of Pediatrics, Division of Pediatric Endocrinology, McGill University Health Center, Montreal Children's Hospital, 2300 Tupper, Suite C-244, Montréal, Québec H3H 1P3, Canada.

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December 2005

Immunogenetics of type 1 diabetes.

Horm Res 2005 24;64(4):180-8. Epub 2005 Oct 24.

Division of Pediatric Endocrinology, McGill University Health Center, Montreal, Canada.

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December 2005

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.

J Clin Endocrinol Metab 2004 Dec;89(12):6257-65

Department of Pediatrics, Division of Pediatrics Endocrinology, McGill University Health Center, Montréal, Québec, Canada.

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December 2004

The insulin-like growth factor-II receptor gene is associated with type 1 diabetes: evidence of a maternal effect.

J Clin Endocrinol Metab 2004 Nov;89(11):5700-6

Department of Pediatrics, McGill University Health Center (Children's Hospital), 2300 Tupper, Suite C244, Montréal, Québec, Canada H3H 1P3.

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November 2004

Animal models of spontaneous autoimmune diabetes: notes on their relevance to the human disease.

Curr Diab Rep 2004 Apr;4(2):151-4

Departments of Pediatrics and Human Genetics, McGill University Health Center, 2300 1 Tupper Street, Montreal, Quebec H3H 1P3, Canada.

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April 2004

Mechanisms of genetic susceptibility to type I diabetes: beyond HLA.

Mol Genet Metab 2004 Mar;81(3):187-95

Endocrine Genetics Laboratory, Department of Pediatrics, Division of Pediatric Endocrinology, McGill University Health Sciences Center, Montréal, Québec, Canada.

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March 2004

Proinsulin expression by Hassall's corpuscles in the mouse thymus.

Diabetes 2004 Feb;53(2):354-9

Endocrine Genetics Laboratory, McGill University Health Center (Montreal Children's Hospital-Research Institute), Montreal, Quebec, Canada.

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February 2004

Prednisolone in the treatment of adrenal insufficiency: a re-evaluation of relative potency.

J Pediatr 2003 Sep;143(3):402-5

Endocrinology and Metabolism, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

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September 2003

New insights into the genetics of neonatal diabetes.

Rev Endocr Metab Disord 2003 Mar;4(1):19-22

Department of Pediatrics, McGill University Health Center, 2300 Tupper, Montréal, Québec, Canada H3H 1P3.

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March 2003

Impact of the human genome project on pediatric endocrinology.

Horm Res 2003 ;59(2):55-65

Department of Pediatrics, McGill University Health Center, Montréal, Canada.

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September 2003

Safety profile of frequent short courses of oral glucocorticoids in acute pediatric asthma: impact on bone metabolism, bone density, and adrenal function.

Pediatrics 2003 Feb;111(2):376-83

Department of Pediatrics and Epidemiology, Montreal Children's Hospital, McGill University Health Centre, Montreal, Québec, Canada.

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February 2003

Parental genomic imprinting in endocrinopathies.

Eur J Endocrinol 2002 Nov;147(5):561-9

Division of Endocrinology, Department of Pediatrics, McGill University, Montreal, Quebec, Canada.

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November 2002

A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele.

J Biol Chem 2002 Nov 19;277(48):46478-86. Epub 2002 Sep 19.

Endocrine Genetics Laboratory, Department of Pediatrics, Division of Pediatric Endocrinology, McGill University Health Center, 2300 Tupper, Montréal, Québec H3H 1P3, Canada.

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November 2002

Evaluation of conventional blood glucose monitoring as an indicator of integrated glucose values using a continuous subcutaneous sensor.

Diabetes Care 2002 Sep;25(9):1603-6

Department of Pediatrics, Division of Pediatric Endocrinology, McGill University Health Center, Montreal Children's Hospital, Montréal, Québec, Canada.

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September 2002

Insulin expression levels in the thymus modulate insulin-specific autoreactive T-cell tolerance: the mechanism by which the IDDM2 locus may predispose to diabetes.

Diabetes 2002 May;51(5):1383-90

Endocrine Genetics Laboratory, McGill University Health Center, Montreal Children's Hospital-Research Institute, Montreal, Quebec, Canada.

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May 2002