Mechanism of KATP hyperactivity and sulfonylurea tolerance due to a diabetogenic mutation in L0 helix of sulfonylurea receptor 1 (ABCC8)

Tekijä Babenko, Andrey P., Vaxillaire, Martine
Julkaistu 2011

Transcription factor-dependent regulation of CBP and P/CAF histone acetyltransferase activity

Tekijä Soutoglou, Evi, Viollet, Benoit, Vaxillaire, Martine, Yaniv, Moshe, Pontoglio, Marco, Talianidis, Iannis
Julkaistu 2001

The Common P446L Polymorphism in GCKR Inversely Modulates Fasting Glucose and Triglyceride Levels and Reduces Type 2 Diabetes Risk in the DESIR Prospective General French Populatio...

Tekijä Vaxillaire, Martine, Cavalcanti-Proença, Christine, Dechaume, Aurélie, Tichet, Jean, Marre, Michel, Balkau, Beverley, Froguel, Philippe
Julkaistu 2008

Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population

Tekijä Cheyssac, Claire, Lecoeur, Cécile, Dechaume, Aurélie, Bibi, Amina, Charpentier, Guillaume, Balkau, Beverley, Marre, Michel, Froguel, Philippe, Gibson, Fernando, Vaxillaire, Martine
Julkaistu 2006

Conserved Intramolecular Disulfide Bond Is Critical to Trafficking and Fate of ATP-binding Cassette (ABC) Transporters ABCB6 and Sulfonylurea Receptor 1 (SUR1)/ABCC8

Tekijä Fukuda, Yu, Aguilar-Bryan, Lydia, Vaxillaire, Martine, Dechaume, Aurelie, Wang, Yao, Dean, Michael, Moitra, Karobi, Bryan, Joseph, Schuetz, John D.
Julkaistu 2011

Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profiling

Tekijä Yengo, Loic, Arredouani, Abdelilah, Marre, Michel, Roussel, Ronan, Vaxillaire, Martine, Falchi, Mario, Haoudi, Abdelali, Tichet, Jean, Balkau, Beverley, Bonnefond, Amélie, Froguel, Philippe
Julkaisussa Mol Metab (2016)

Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study

Tekijä Ezzidi, Intissar, Mtiraoui, Nabil, Cauchi, Stéphane, Vaillant, Emmanuel, Dechaume, Aurélie, Chaieb, Molka, Kacem, Maha, Almawi, Wassim Y, Froguel, Philippe, Mahjoub, Touhami, Vaxillaire, Martine
Julkaistu 2009

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

Tekijä Philippe, Julien, Derhourhi, Mehdi, Durand, Emmanuelle, Vaillant, Emmanuel, Dechaume, Aurélie, Rabearivelo, Iandry, Dhennin, Véronique, Vaxillaire, Martine, De Graeve, Franck, Sand, Olivier, Froguel, Philippe, Bonnefond, Amélie
Julkaisussa PLoS One (2015)

Predicting Diabetes: Clinical, Biological, and Genetic Approaches: Data from the Epidemiological Study on the Insulin Resistance Syndrome (DESIR)

Tekijä Balkau, Beverley, Lange, Céline, Fezeu, Leopold, Tichet, Jean, de Lauzon-Guillain, Blandine, Czernichow, Sebastien, Fumeron, Frederic, Froguel, Philippe, Vaxillaire, Martine, Cauchi, Stephane, Ducimetière, Pierre, Eschwège, Eveline
Julkaistu 2008

Clinical and Metabolic Features of Adult-Onset Diabetes Caused by ABCC8 Mutations

Tekijä Riveline, Jean-Pierre, Rousseau, Elise, Reznik, Yves, Fetita, Sabrina, Philippe, Julien, Dechaume, Aurélie, Hartemann, Agnès, Polak, Michel, Petit, Catherine, Charpentier, Guillaume, Gautier, Jean-François, Froguel, Philippe, Vaxillaire, Martine
Julkaistu 2012

Functional and genetic analysis in type 2 diabetes of Liver X receptor alleles – a cohort study

Tekijä Dahlman, Ingrid, Nilsson, Maria, Gu, Harvest F, Lecoeur, Cecile, Efendic, Suad, Östenson, Claes G, Brismar, Kerstin, Gustafsson, Jan-Åke, Froguel, Philippe, Vaxillaire, Martine, Dahlman-Wright, Karin, Steffensen, Knut R
Julkaistu 2009

A rare mutation in ABCC8/SUR1 leading to altered K(ATP) channel activity and β-cell glucose sensing is associated with type 2 diabetes mellitus in adults

Tekijä Tarasov, Andrei I., Nicolson, Tamara, Riveline, Jean-Pierre, Taneja, Tarvinder K., Baldwin, Stephen A., Baldwin, Jocelyn M., Charpentier, Guillaume, Gautier, Jean-François, Froguel, Philippe, Vaxillaire, Martine, Rutter, Guy A.
Julkaisussa Diabetes (2008)

Human Mutation within Per-Arnt-Sim (PAS) Domain-containing Protein Kinase (PASK) Causes Basal Insulin Hypersecretion

Tekijä Semplici, Francesca, Vaxillaire, Martine, Fogarty, Sarah, Semache, Meriem, Bonnefond, Amélie, Fontés, Ghislaine, Philippe, Julien, Meur, Gargi, Diraison, Frederique, Sessions, Richard B., Rutter, Jared, Poitout, Vincent, Froguel, Philippe, Rutter, Guy A.
Julkaistu 2011

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Tekijä Bonnefond, Amélie, Durand, Emmanuelle, Sand, Olivier, De Graeve, Franck, Gallina, Sophie, Busiah, Kanetee, Lobbens, Stéphane, Simon, Albane, Bellanné-Chantelot, Christine, Létourneau, Louis, Scharfmann, Raphael, Delplanque, Jérôme, Sladek, Robert, Polak, Michel, Vaxillaire, Martine, Froguel, Philippe
Julkaistu 2010

Glucose-Dependent Regulation of NR2F2 Promoter and Influence of SNP-rs3743462 on Whole Body Insulin Sensitivity

Tekijä Boutant, Marie, Ramos, Oscar Henrique Pereira, Lecoeur, Cécile, Vaillant, Emmanuel, Philippe, Julien, Zhang, Pili, Perilhou, Anaïs, Valcarcel, Beatriz, Sebert, Sylvain, Jarvelin, Mario-Ritta, Balkau, Beverley, Scott, Donald, Froguel, Philippe, Vaxillaire, Martine, Vasseur-Cognet, Mireille
Julkaistu 2012

Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

Tekijä Bonnefond, Amélie, Philippe, Julien, Durand, Emmanuelle, Dechaume, Aurélie, Huyvaert, Marlène, Montagne, Louise, Marre, Michel, Balkau, Beverley, Fajardy, Isabelle, Vambergue, Anne, Vatin, Vincent, Delplanque, Jérôme, Le Guilcher, David, De Graeve, Franck, Lecoeur, Cécile, Sand, Olivier, Vaxillaire, Martine, Froguel, Philippe
Julkaistu 2012

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

Tekijä Meur, Gargi, Simon, Albane, Harun, Nasret, Virally, Marie, Dechaume, Aurélie, Bonnefond, Amélie, Fetita, Sabrina, Tarasov, Andrei I., Guillausseau, Pierre-Jean, Boesgaard, Trine Welløv, Pedersen, Oluf, Hansen, Torben, Polak, Michel, Gautier, Jean-François, Froguel, Philippe, Rutter, Guy A., Vaxillaire, Martine
Julkaistu 2010

Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Me...

Tekijä Bonnefond, Amélie, Lomberk, Gwen, Buttar, Navtej, Busiah, Kanetee, Vaillant, Emmanuel, Lobbens, Stéphane, Yengo, Loïc, Dechaume, Aurélie, Mignot, Brigitte, Simon, Albane, Scharfmann, Raphaël, Neve, Bernadette, Tanyolaç, Sinan, Hodoglugil, Ugur, Pattou, François, Cavé, Hélène, Iovanna, Juan, Stein, Roland, Polak, Michel, Vaxillaire, Martine, Froguel, Philippe, Urrutia, Raul
Julkaistu 2011

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

Tekijä Bonnefond, Amélie, Vaxillaire, Martine, Labrune, Yann, Lecoeur, Cécile, Chèvre, Jean-Claude, Bouatia-Naji, Nabila, Cauchi, Stéphane, Balkau, Beverley, Marre, Michel, Tichet, Jean, Riveline, Jean-Pierre, Hadjadj, Samy, Gallois, Yves, Czernichow, Sébastien, Hercberg, Serge, Kaakinen, Marika, Wiesner, Susanne, Charpentier, Guillaume, Lévy-Marchal, Claire, Elliott, Paul, Jarvelin, Marjo-Riitta, Horber, Fritz, Dina, Christian, Pedersen, Oluf, Sladek, Robert, Meyre, David, Froguel, Philippe
Julkaistu 2009

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

Tekijä Bouatia-Naji, Nabila, Bonnefond, Amélie, Baerenwald, Devin A., Marchand, Marion, Bugliani, Marco, Marchetti, Piero, Pattou, François, Printz, Richard L., Flemming, Brian P., Umunakwe, Obi C., Conley, Nicholas L., Vaxillaire, Martine, Lantieri, Olivier, Balkau, Beverley, Marre, Michel, Lévy-Marchal, Claire, Elliott, Paul, Jarvelin, Marjo-Riitta, Meyre, David, Dina, Christian, Oeser, James K., Froguel, Philippe, O'Brien, Richard M.
Julkaistu 2010