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Journal Articles

PNLIPRP1 Hypermethylation in Exocrine Pancreas Links Type 2 Diabetes and Cholesterol Metabolism

Lucas Maurin, Lorella Marselli, Mathilde Boissel, Lijiao Ning, Raphael Boutry, Justine Fernandes, Mara Suleiman, Carmela De Luca, Audrey Leloire, Vincent Pascat, Bénédicte Toussaint, Souhila Amanzougarene, Mehdi Derhourhi, Anne Jörns, Sigurd Lenzen, François Pattou, Julie Kerr-Conte, Mickaël Canouil, Piero Marchetti, Amélie Bonnefond, Philippe Froguel, Amna Khamis
Journal: Diabetes
Diabetes 2024;73(11):1908–1918
https://doi.org/10.2337/db24-0215
Published: 13 August 2024
View article titled, <em>PNLIPRP1</em> Hypermethylation in Exocrine Pancreas Links Type 2 Diabetes and Cholesterol Metabolism
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Meeting Abstracts

1471-P: Impaired Delta Opioid Receptor Function Protects against Type 2 Diabetes and Results in Enhanced Insulin Secretion—A Functional Genetic Study

AMELIE BONNEFOND, RADIO GROUP, RAPHAEL SCHARFMANN, PIERO MARCHETTI, MIRIAM CNOP, PHILIPPE FROGUEL
Journal: Diabetes
Diabetes 2024;73(Supplement_1):1471-P
https://doi.org/10.2337/db24-1471-P
Published: 14 June 2024
View article titled, 1471-P: Impaired Delta Opioid Receptor Function Protects against Type 2 Diabetes and Results in Enhanced Insulin Secretion—A Functional Genetic Study
Journal Articles

β-Cell–Specific E2f1 Deficiency Impairs Glucose Homeostasis, β-Cell Identity, and Insulin Secretion

Frédérik Oger, Cyril Bourouh, Marika Elsa Friano, Emilie Courty, Laure Rolland, Xavier Gromada, Maeva Moreno, Charlène Carney, Nabil Rabhi, Emmanuelle Durand, Souhila Amanzougarene, Lionel Berberian, Mehdi Derhourhi, Etienne Blanc, Sarah Anissa Hannou, Pierre-Damien Denechaud, Zohra Benfodda, Patrick Meffre, Lluis Fajas, Julie Kerr-Conte, François Pattou, Philippe Froguel, Benoit Pourcet, Amélie Bonnefond, Patrick Collombat, Jean-Sébastien Annicotte
Journal: Diabetes
Diabetes 2023;72(8):1112–1126
https://doi.org/10.2337/db22-0604
Published: 22 May 2023
View article titled, β-Cell–Specific <em>E2f1</em> Deficiency Impairs Glucose Homeostasis, β-Cell Identity, and Insulin Secretion
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Journal Articles

Biallelic Mutations in P4HTM Cause Syndromic Obesity

Sadia Saeed, Lijiao Ning, Alaa Badreddine, Muhammad Usman Mirza, Mathilde Boissel, Roohia Khanam, Jaida Manzoor, Qasim M. Janjua, Waqas I. Khan, Bénédicte Toussaint, Emmanuel Vaillant, Souhila Amanzougarene, Mehdi Derhourhi, John F. Trant, Anna-Maria Siegert, Brian Y.H. Lam, Giles S.H. Yeo, Layachi Chabraoui, Asmae Touzani, Abhishek Kulkarni, I. Sadaf Farooqi, Amélie Bonnefond, Muhammad Arslan, Philippe Froguel
Journal: Diabetes
Diabetes 2023;72(9):1228–1234
https://doi.org/10.2337/db22-1017
Published: 21 April 2023
View article titled, Biallelic Mutations in <em>P4HTM</em> Cause Syndromic Obesity
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Journal Articles

Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan

Sadia Saeed, Qasim M. Janjua, Attiya Haseeb, Roohia Khanam, Emmanuelle Durand, Emmanuel Vaillant, Lijiao Ning, Alaa Badreddine, Lionel Berberian, Mathilde Boissel, Souhila Amanzougarene, Mickaël Canouil, Mehdi Derhourhi, Amélie Bonnefond, Muhammad Arslan, Philippe Froguel
Journal: Diabetes
Diabetes 2022;71(4):694–705
https://doi.org/10.2337/db21-0373
Published: 21 January 2022
View article titled, Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan
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Journal Articles

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan

Sadia Saeed, Muhammad Arslan, Jaida Manzoor, Sadia M. Din, Qasim M. Janjua, Hina Ayesha, Qura-tul Ain, Laraib Inam, Stephane Lobbens, Emmanuel Vaillant, Emmanuelle Durand, Mehdi Derhourhi, Souhila Amanzougarene, Alaa Badreddine, Lionel Berberian, Stefan Gaget, Waqas I. Khan, Taeed A. Butt, Amélie Bonnefond, Philippe Froguel
Journal: Diabetes
Diabetes 2020;69(7):1424–1438
https://doi.org/10.2337/db19-1238
Published: 29 April 2020
View article titled, Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan
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Meeting Abstracts

29-OR: High Prevalence of Pathogenic Mutations in Genes Causing Monogenic Diabetes among Patients with Common Type 2 Diabetes

AMELIE BONNEFOND, PHILIPPE FROGUEL, LILLE-D.E.S.I.R. GENETICS STUDY
Journal: Diabetes
Diabetes 2019;68(Supplement_1):29-OR
https://doi.org/10.2337/db19-29-OR
Published: 01 June 2019
View article titled, 29-OR: High Prevalence of Pathogenic Mutations in Genes Causing Monogenic Diabetes among Patients with Common Type 2 Diabetes
Journal Articles

Increased Hepatic PDGF-AA Signaling Mediates Liver Insulin Resistance in Obesity-Associated Type 2 Diabetes

Amar Abderrahmani, Loïc Yengo, Robert Caiazzo, Mickaël Canouil, Stéphane Cauchi, Violeta Raverdy, Valérie Plaisance, Valérie Pawlowski, Stéphane Lobbens, Julie Maillet, Laure Rolland, Raphael Boutry, Gurvan Queniat, Maxime Kwapich, Mathie Tenenbaum, Julien Bricambert, Sophie Saussenthaler, Elodie Anthony, Pooja Jha, Julien Derop, Olivier Sand, Iandry Rabearivelo, Audrey Leloire, Marie Pigeyre, Martine Daujat-Chavanieu, Sabine Gerbal-Chaloin, Tasnim Dayeh, Guillaume Lassailly, Philippe Mathurin, Bart Staels, Johan Auwerx, Annette Schürmann, Catherine Postic, Clemens Schafmayer, Jochen Hampe, Amélie Bonnefond, François Pattou, Philippe Froguel
Journal: Diabetes
Diabetes 2018;67(7):1310–1321
https://doi.org/10.2337/db17-1539
Published: 04 May 2018
View article titled, Increased Hepatic PDGF-AA Signaling Mediates Liver Insulin Resistance in Obesity-Associated Type 2 Diabetes
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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

MTNR1B G24E Variant Associates With BMI and Fasting Plasma Glucose in the General Population in Studies of 22,142 Europeans

Ehm A. Andersson, Birgitte Holst, Thomas Sparsø, Niels Grarup, Karina Banasik, Johan Holmkvist, Torben Jørgensen, Knut Borch-Johnsen, Kristoffer L. Egerod, Torsten Lauritzen, Thorkild I.A. Sørensen, Amélie Bonnefond, David Meyre, Philippe Froguel, Thue W. Schwartz, Oluf Pedersen, Torben Hansen
Journal: Diabetes
Diabetes 2010;59(6):1539–1548
https://doi.org/10.2337/db09-1757
Published: 03 March 2010
View article titled, <em>MTNR1B</em> G24E Variant Associates With BMI and Fasting Plasma Glucose in the General Population in Studies of 22,142 Europeans
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Includes: Supplementary data
Journal Articles

Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention

Gargi Meur, Albane Simon, Nasret Harun, Marie Virally, Aurélie Dechaume, Amélie Bonnefond, Sabrina Fetita, Andrei I. Tarasov, Pierre-Jean Guillausseau, Trine Welløv Boesgaard, Oluf Pedersen, Torben Hansen, Michel Polak, Jean-François Gautier, Philippe Froguel, Guy A. Rutter, Martine Vaxillaire
Journal: Diabetes
Diabetes 2010;59(3):653–661
https://doi.org/10.2337/db09-1091
Published: 10 December 2009
View article titled, Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention
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Includes: Supplementary data
Journal Articles

Genetic Variant in HK1 Is Associated With a Proanemic State and A1C but Not Other Glycemic Control–Related Traits

Amélie Bonnefond, Martine Vaxillaire, Yann Labrune, Cécile Lecoeur, Jean-Claude Chèvre, Nabila Bouatia-Naji, Stéphane Cauchi, Beverley Balkau, Michel Marre, Jean Tichet, Jean-Pierre Riveline, Samy Hadjadj, Yves Gallois, Sébastien Czernichow, Serge Hercberg, Marika Kaakinen, Susanne Wiesner, Guillaume Charpentier, Claire Lévy-Marchal, Paul Elliott, Marjo-Riitta Jarvelin, Fritz Horber, Christian Dina, Oluf Pedersen, Robert Sladek, David Meyre, Philippe Froguel
Journal: Diabetes
Diabetes 2009;58(11):2687–2697
https://doi.org/10.2337/db09-0652
Published: 03 August 2009
View article titled, Genetic Variant in <em>HK1</em> Is Associated With a Proanemic State and A1C but Not Other Glycemic Control–Related Traits
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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