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Journal Articles

A Novel Intron-Encoded Neuropilin-1 Isoform in Pancreatic Islets Associated With Very Young Age of Onset of Type 1 Diabetes

Michael J. MacDonald, Israr-ul H. Ansari, Amy S. Riedemann, Scott W. Stoker, Jens C. Eickhoff, Peter J. Chlebeck, Luis A. Fernandez, Melissa J. Longacre
Journal: Diabetes
Diabetes 2022;71(9):2058–2063
https://doi.org/10.2337/db21-1070
Published: 17 June 2022
View article titled, A Novel Intron-Encoded Neuropilin-1 Isoform in Pancreatic Islets Associated With Very Young Age of Onset of Type 1 Diabetes
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Meeting Abstracts

246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY

MARIE H. SOLHEIM, MOJDEH NASROLLAHZADEH KHAKIANI, JANNE MOLNES, INGVILD AUKRUST, PåL RASMUS NJøLSTAD, STEFAN JOHANSSON
Journal: Diabetes
Diabetes 2019;68(Supplement_1):246-LB
https://doi.org/10.2337/db19-246-LB
Published: 01 June 2019
View article titled, 246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY
Journal Articles

Genetic Variation Within the HLA-DRA1 Gene Modulates Susceptibility to Type 1 Diabetes in HLA-DR3 Homozygotes

Özkan Aydemir, Janelle A. Noble, Jeffrey A. Bailey, Åke Lernmark, Patrick Marsh, Agnes Andersson Svärd, Frank Bearoff, Elizabeth P. Blankenhorn, John P. Mordes, Better Diabetes Diagnosis (BDD) Study Group, Martina Persson, Helena Elding Larsson, Gun Forsander, Sten-Anders Ivarsson, Johnny Ludvigsson, Claude Marcus, Annelie Carlsson
Journal: Diabetes
Diabetes 2019;68(7):1523–1527
https://doi.org/10.2337/db18-1128
Published: 08 April 2019
View article titled, Genetic Variation Within the <em>HLA-DRA1</em> Gene Modulates Susceptibility to Type 1 Diabetes in HLA-DR3 Homozygotes
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Includes: Supplementary data
Journal Articles

The Dysregulation of the DLK1-MEG3 Locus in Islets From Patients With Type 2 Diabetes Is Mimicked by Targeted Epimutation of Its Promoter With TALE-DNMT Constructs

Vasumathi Kameswaran, Maria L. Golson, Mireia Ramos-Rodríguez, Kristy Ou, Yue J. Wang, Jia Zhang, Lorenzo Pasquali, Klaus H. Kaestner
Journal: Diabetes
Diabetes 2018;67(9):1807–1815
https://doi.org/10.2337/db17-0682
Published: 03 July 2018
View article titled, The Dysregulation of the <em>DLK1</em>-<em>MEG3</em> Locus in Islets From Patients With Type 2 Diabetes Is Mimicked by Targeted Epimutation of Its Promoter With TALE-DNMT Constructs
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Includes: Supplementary data
Journal Articles

Negative Regulation of DsbA-L Gene Expression by the Transcription Factor Sp1

Qichen Fang, Wenjing Yang, Huating Li, Wenxiu Hu, Lihui Chen, Shan Jiang, Kun Dong, Qianqian Song, Chen Wang, Shuo Chen, Feng Liu, Weiping Jia
Journal: Diabetes
Diabetes 2014;63(12):4165–4171
https://doi.org/10.2337/db14-0182
Published: 13 November 2014
View article titled, Negative Regulation of DsbA-L Gene Expression by the Transcription Factor Sp1
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Journal Articles

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

Lori L. Bonnycastle, Peter S. Chines, Takashi Hara, Jeroen R. Huyghe, Amy J. Swift, Pirkko Heikinheimo, Jana Mahadevan, Sirkku Peltonen, Hanna Huopio, Pirjo Nuutila, Narisu Narisu, Rachel L. Goldfeder, Michael L. Stitzel, Simin Lu, Michael Boehnke, Fumihiko Urano, Francis S. Collins, Markku Laakso
Journal: Diabetes
Diabetes 2013;62(11):3943–3950
https://doi.org/10.2337/db13-0571
Published: 18 October 2013
View article titled, Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
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Journal Articles

Allele-Specific Transcriptional Activity at Type 2 Diabetes–Associated Single Nucleotide Polymorphisms in Regions of Pancreatic Islet Open Chromatin at the JAZF1 Locus

Marie P. Fogarty, Tami M. Panhuis, Swarooparani Vadlamudi, Martin L. Buchkovich, Karen L. Mohlke
Journal: Diabetes
Diabetes 2013;62(5):1756–1762
https://doi.org/10.2337/db12-0972
Published: 16 April 2013
View article titled, Allele-Specific Transcriptional Activity at Type 2 Diabetes–Associated Single Nucleotide Polymorphisms in Regions of Pancreatic Islet Open Chromatin at the <em>JAZF1</em> Locus
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Includes: Supplementary data
Journal Articles

Genetic and Functional Assessment of the Role of the rs13431652-A and rs573225-A Alleles in the G6PC2 Promoter That Are Strongly Associated With Elevated Fasting Glucose Levels

Nabila Bouatia-Naji, Amélie Bonnefond, Devin A. Baerenwald, Marion Marchand, Marco Bugliani, Piero Marchetti, François Pattou, Richard L. Printz, Brian P. Flemming, Obi C. Umunakwe, Nicholas L. Conley, Martine Vaxillaire, Olivier Lantieri, Beverley Balkau, Michel Marre, Claire Lévy-Marchal, Paul Elliott, Marjo-Riitta Jarvelin, David Meyre, Christian Dina, James K. Oeser, Philippe Froguel, Richard M. O'Brien
Journal: Diabetes
Diabetes 2010;59(10):2662–2671
https://doi.org/10.2337/db10-0389
Published: 09 July 2010
View article titled, Genetic and Functional Assessment of the Role of the rs13431652-A and rs573225-A Alleles in the <em>G6PC2</em> Promoter That Are Strongly Associated With Elevated Fasting Glucose Levels
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Includes: Supplementary data
Journal Articles

FTO Genetic Variation and Association With Obesity in West Africans and African Americans

Adebowale Adeyemo, Guanjie Chen, Jie Zhou, Daniel Shriner, Ayo Doumatey, Hanxia Huang, Charles Rotimi
Journal: Diabetes
Diabetes 2010;59(6):1549–1554
https://doi.org/10.2337/db09-1252
Published: 18 March 2010
View article titled, <em>FTO</em> Genetic Variation and Association With Obesity in West Africans and African Americans
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Includes: Supplementary data
Journal Articles

Genetic Variation at the FTO Locus Influences RBL2 Gene Expression

Jeremy B.M. Jowett, Joanne E. Curran, Matthew P. Johnson, Melanie A. Carless, Harald H.H. Göring, Thomas D. Dyer, Shelley A. Cole, Anthony G. Comuzzie, Jean W. MacCluer, Eric K. Moses, John Blangero
Journal: Diabetes
Diabetes 2010;59(3):726–732
https://doi.org/10.2337/db09-1277
Published: 15 December 2009
View article titled, Genetic Variation at the <em>FTO</em> Locus Influences <em>RBL2</em> Gene Expression
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Includes: Supplementary data
Journal Articles

Confirmation of Genetic Associations at ELMO1 in the GoKinD Collection Supports Its Role as a Susceptibility Gene in Diabetic Nephropathy

Marcus G. Pezzolesi, Pisut Katavetin, Masahiko Kure, G. David Poznik, Jan Skupien, Josyf C. Mychaleckyj, Stephen S. Rich, James H. Warram, Andrzej S. Krolewski
Journal: Diabetes
Diabetes 2009;58(11):2698–2702
https://doi.org/10.2337/db09-0641
Published: 03 August 2009
View article titled, Confirmation of Genetic Associations at <em>ELMO1</em> in the GoKinD Collection Supports Its Role as a Susceptibility Gene in Diabetic Nephropathy
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Includes: Supplementary data
Journal Articles

Common Variation in SIM1 Is Reproducibly Associated With BMI in Pi ma Indians

Michael Traurig, Janel Mack, Robert L. Hanson, Maya Ghoussaini, David Meyre, William C. Knowler, Sayuko Kobes, Philippe Froguel, Clifton Bogardus, Leslie J. Baier
Journal: Diabetes
Diabetes 2009;58(7):1682–1689
https://doi.org/10.2337/db09-0028
Published: 28 April 2009
View article titled, Common Variation in <em>SIM1</em> Is Reproducibly Associated With BMI in Pi ma Indians
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Includes: Supplementary data
Journal Articles

G-allele of Intronic rs10830963 in MTNR1B Confers Increased Risk of Impaired Fasting Glycemia and Type 2 Diabetes Through an Impaired Glucose-Stimulated Insulin Release: Studies Involving 19,605 Europeans

Thomas Sparsø, Amélie Bonnefond, Ehm Andersson, Nabila Bouatia-Naji, Johan Holmkvist, Lise Wegner, Niels Grarup, Anette P. Gjesing, Karina Banasik, Christine Cavalcanti-Proença, Marion Marchand, Martine Vaxillaire, Guillaume Charpentier, Marjo-Riitta Jarvelin, Jean Tichet, Beverley Balkau, Michel Marre, Claire Lévy-Marchal, Kristine Færch, Knut Borch-Johnsen, Torben Jørgensen, Sten Madsbad, Pernille Poulsen, Allan Vaag, Christian Dina, Torben Hansen, Oluf Pedersen, Philippe Froguel
Journal: Diabetes
Diabetes 2009;58(6):1450–1456
https://doi.org/10.2337/db08-1660
Published: 26 March 2009
View article titled, G-allele of Intronic rs10830963 in <em>MTNR1B</em> Confers Increased Risk of Impaired Fasting Glycemia and Type 2 Diabetes Through an Impaired Glucose-Stimulated Insulin Release: <subtitle>Studies Involving 19,605 Europeans</subtitle>
Open the PDF for G-allele of Intronic rs10830963 in <em>MTNR1B</em> Confers Increased Risk of Impaired Fasting Glycemia and Type 2 Diabetes Through an Impaired Glucose-Stimulated Insulin Release: <subtitle>Studies Involving 19,605 Europeans</subtitle> in another window
Includes: Supplementary data
Journal Articles

Common Variants of Hepatocyte Nuclear Factor 1β Are Associated With Type 2 Diabetes in a Chinese Population

Congrong Wang, Cheng Hu, Rong Zhang, Yuqian Bao, Xiaojing Ma, Jingyi Lu, Wen Qin, Xinyu Shao, Junxi Lu, Jing Xu, Huijuan Lu, Kunsan Xiang, Weiping Jia
Journal: Diabetes
Diabetes 2009;58(4):1023–1027
https://doi.org/10.2337/db08-1064
Published: 23 January 2009
View article titled, Common Variants of Hepatocyte Nuclear Factor 1β Are Associated With Type 2 Diabetes in a Chinese Population
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Includes: Supplementary data
Journal Articles

G/T Substitution in Intron 1 of the UNC13B Gene Is Associated With Increased Risk of Nephropathy in Patients With Type 1 Diabetes

David-Alexandre Trégouet, Per-Henrik Groop, Steven McGinn, Carol Forsblom, Samy Hadjadj, Michel Marre, Hans-Henrik Parving, Lise Tarnow, Ralph Telgmann, Tiphaine Godefroy, Viviane Nicaud, Rachel Rousseau, Maikki Parkkonen, Anna Hoverfält, Ivo Gut, Simon Heath, Fumihiko Matsuda, Roger Cox, Gbenga Kazeem, Martin Farrall, Dominique Gauguier, Stefan-Martin Brand-Herrmann, François Cambien, Mark Lathrop, Nathalie Vionnet, for the EURAGEDIC Consortium
Journal: Diabetes
Diabetes 2008;57(10):2843–2850
https://doi.org/10.2337/db08-0073
Published: 01 October 2008
View article titled, G/T Substitution in Intron 1 of the <em>UNC13B</em> Gene Is Associated With Increased Risk of Nephropathy in Patients With Type 1 Diabetes
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Includes: Supplementary data
Journal Articles

Association of the Distal Region of the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Gene With Type 2 Diabetes in an African-American Population Enriched for Nephropathy

Keith L. Keene, Josyf C. Mychaleckyj, Shelly G. Smith, Tennille S. Leak, Peter S. Perlegas, Carl D. Langefeld, Barry I. Freedman, Stephen S. Rich, Donald W. Bowden, Michèle M. Sale
Journal: Diabetes
Diabetes 2008;57(4):1057–1062
https://doi.org/10.2337/db07-0886
Published: 01 April 2008
View article titled, Association of the Distal Region of the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Gene With Type 2 Diabetes in an African-American Population Enriched for Nephropathy
Open the PDF for Association of the Distal Region of the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Gene With Type 2 Diabetes in an African-American Population Enriched for Nephropathy in another window
Includes: Supplementary data
Journal Articles

Long-Range Enhancers Are Required to Maintain Expression of the Autoantigen Islet-Specific Glucose-6-Phosphatase Catalytic Subunit–Related Protein in Adult Mouse Islets In Vivo

Yingda Wang, Brian P. Flemming, Cyrus C. Martin, Shelley R. Allen, Jay Walters, James K. Oeser, John C. Hutton, Richard M. O'Brien
Journal: Diabetes
Diabetes 2008;57(1):133–141
https://doi.org/10.2337/db07-0092
Published: 01 January 2008
View article titled, Long-Range Enhancers Are Required to Maintain Expression of the Autoantigen Islet-Specific Glucose-6-Phosphatase Catalytic Subunit–Related Protein in Adult Mouse Islets In Vivo
Open the PDF for Long-Range Enhancers Are Required to Maintain Expression of the Autoantigen Islet-Specific Glucose-6-Phosphatase Catalytic Subunit–Related Protein in Adult Mouse Islets In Vivo in another window
Includes: Supplementary data
Journal Articles

Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene Are Associated With Type 2 Diabetes in an African-American Population Enriched for Nephropathy

Michèle M. Sale, Shelly G. Smith, Josyf C. Mychaleckyj, Keith L. Keene, Carl D. Langefeld, Tennille S. Leak, Pamela J. Hicks, Donald W. Bowden, Stephen S. Rich, Barry I. Freedman
Journal: Diabetes
Diabetes 2007;56(10):2638–2642
https://doi.org/10.2337/db07-0012
Published: 01 October 2007
View article titled, Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene Are Associated With Type 2 Diabetes in an African-American Population Enriched for Nephropathy
Open the PDF for Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene Are Associated With Type 2 Diabetes in an African-American Population Enriched for Nephropathy in another window
Includes: Supplementary data
Journal Articles

Association of the Estrogen Receptor-α Gene With the Metabolic Syndrome and Its Component Traits in African-American Families: The Insulin Resistance Atherosclerosis Family Study

Carla J. Gallagher, Carl D. Langefeld, Candace J. Gordon, Joel K. Campbell, Josyf C. Mychalecky, Michael Bryer-Ash, Stephen S. Rich, Donald W. Bowden, Michèle M. Sale
Journal: Diabetes
Diabetes 2007;56(8):2135–2141
https://doi.org/10.2337/db06-1017
Published: 01 August 2007
View article titled, Association of the Estrogen Receptor-α Gene With the Metabolic Syndrome and Its Component Traits in African-American Families: <subtitle>The Insulin Resistance Atherosclerosis Family Study</subtitle>
Open the PDF for Association of the Estrogen Receptor-α Gene With the Metabolic Syndrome and Its Component Traits in African-American Families: <subtitle>The Insulin Resistance Atherosclerosis Family Study</subtitle> in another window
Includes: Supplementary data
Journal Articles

Investigation of the Estrogen Receptor-α Gene With Type 2 Diabetes and/or Nephropathy in African-American and European-American Populations

Carla J. Gallagher, Keith L. Keene, Josyf C. Mychaleckyj, Carl D. Langefeld, Joel N. Hirschhorn, Brian E. Henderson, Candace J. Gordon, Barry I. Freedman, Stephen S. Rich, Donald W. Bowden, Michèle M. Sale
Journal: Diabetes
Diabetes 2007;56(3):675–684
https://doi.org/10.2337/db06-0303
Published: 01 March 2007
View article titled, Investigation of the Estrogen Receptor-α Gene With Type 2 Diabetes and/or Nephropathy in African-American and European-American Populations
Open the PDF for Investigation of the Estrogen Receptor-α Gene With Type 2 Diabetes and/or Nephropathy in African-American and European-American Populations in another window
Includes: Supplementary data