Monoallelic pathogenic variants in LEPR do not cause obesity

Authors: Delplanque, Jérôme, Le Collen, Lauriane, Loiselle, Hélène, Leloire, Audrey, Toussaint, Bénédicte, Vaillant, Emmanuel, Charpentier, Guillaume, Franc, Sylvia, Balkau, Beverley, Marre, Michel, Henriques, Emma, Buse Falay, Emmanuel, Derhourhi, Mehdi, Froguel, Philippe, Bonnefond, Amélie

Source: In The American Journal of Human Genetics 5 December 2024 111(12):2668-2674

Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine

Authors: Kouidrat, Youssef, Le Collen, Lauriane, Vaxillaire, Martine, Dechaume, Aurélie, Toussaint, Bénédicte, Vaillant, Emmanuel, Amanzougarene, Souhila, Derhourhi, Mehdi, Delemer, Brigitte, Azahaf, Mustapha, Froguel, Philippe, Bonnefond, Amélie

Source: In Diabetes & Metabolism January 2024 50(1)

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use

Authors: Le Collen, Lauriane, Delemer, Brigitte, Poitou, Christine, Vaxillaire, Martine, Toussaint, Bénédicte, Dechaume, Aurélie, Badreddine, Alaa, Boissel, Mathilde, Derhourhi, Mehdi, Clément, Karine, Petit, Jean M., Mau-Them, Frédéric Tran, Bruel, Ange-Line, Thauvin-Robinet, Christel, Saveanu, Alexandru, Cherifi, Blandine Gatta, Le Beyec-Le Bihan, Johanne, Froguel, Philippe, Bonnefond, Amélie

Source: In Genetics in Medicine July 2023 25(7)

Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.

Authors: Collen, Lauriane Le, Desgrouas, Camille, Croisier, Céline Lukas, Creugnet, Brunot, Dechaume, Aurélie, Toussaint, Bénédicte, Vaillant, Emmanuel, Amanzougarene, Souhila, Falay, Emmanuel Buse, Derhourhi, Mehdi, Lourdelle, Alexandre, Delemer, Brigitte, Bonello-Palot, Nathalie, Vaxillaire, Martine, Badens, Catherine, Froguel, Philippe, Bonnefond, Amélie

Source: European Journal of Endocrinology; Mar2025, Vol. 192 Issue 3, p240-247, 8p

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

Authors: Maurin, Lucas, Marselli, Lorella, Boissel, Mathilde, Ning, Lijiao, Boutry, Raphael, Fernandes, Justine, Suleiman, Mara, De Luca, Carmela, Leloire, Audrey, Pascat, Vincent, Toussaint, Bénédicte, Amanzougarene, Souhila, Derhourhi, Mehdi, Jörns, Anne, Lenzen, Sigurd, Pattou, François, Kerr-Conte, Julie, Canouil, Mickaël, Marchetti, Piero, Bonnefond, Amélie

Source: Diabetes; Nov2024, Vol. 73 Issue 11, p1908-1918, 11p

Subject Terms: PANCREATIC diseases, TYPE 2 diabetes, CHOLESTEROL metabolism, LDL cholesterol, GENE expression, GENE enhancers

Intrahepatic levels of microbiome-derived hippurate associates with improved metabolic dysfunction-associated steatotic liver disease

Authors: Deslande, Maxime ^{1, 2}, Puig-Castellvi, Francesc ^{1, 2, 3}, Castro-Dionicio, Inés ^{1, 2, 3}, Pacheco-Tapia, Romina ^{1, 2, 3}, Raverdy, Violeta ⁴, Caiazzo, Robert ⁴, Lassailly, Guillaume ⁵, Leloire, Audrey ^{1, 2}, Andrikopoulos, Petros ³, Kahoul, Yasmina ^{1, 2}, Zaïbi, Nawel ^{1, 2}, Toussaint, Bénédicte ^{1, 2}, Oger, Frédérik ^{1, 2}, Gambardella, Nicolas ^{1, 2}, Lefebvre, Philippe ⁵, Derhourhi, Mehdi ^{1, 2}, Amanzougarene, Souhila ^{1, 2}, Staels, Bart ⁵, Pattou, François ⁴, Froguel, Philippe ^{1, 2, 3}, Bonnefond, Amélie ^{1, 2, 3}, Dumas, Marc-Emmanuel ^{1, 2, 3, 6, ⁎}

Source: In Molecular Metabolism February 2025 92

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

Authors: Bonnefond, Amélie, Boissel, Mathilde, Bolze, Alexandre, Durand, Emmanuelle, Toussaint, Bénédicte, Vaillant, Emmanuel, Gaget, Stefan, Graeve, Franck De, Dechaume, Aurélie, Allegaert, Frédéric, Guilcher, David Le, Yengo, Loïc, Dhennin, Véronique, Borys, Jean-Michel, Lu, James T., Cirulli, Elizabeth T., Elhanan, Gai, Roussel, Ronan, Balkau, Beverley, Marre, Michel, Franc, Sylvia, Charpentier, Guillaume, Vaxillaire, Martine, Canouil, Mickaël, Washington, Nicole L., Grzymski, Joseph J., Froguel, Philippe

Source: Nature metabolism. 2(10):1126-1134

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175962246.0x000001&indx=1&recIds=ETOCvdc_100175962246.0x000001

Characteristics and impact of infiltration of B-cells from systemic sclerosis patients in a 3D healthy skin model.

Authors: Le Maître, Mathilde, Guerrier, Thomas, Collet, Aurore, Derhourhi, Mehdi, Meneboo, Jean-Pascal, Toussaint, Bénédicte, Bonnefond, Amélie, Villenet, Céline, Sebda, Shéhérazade, Bongiovanni, Antonino, Tardivel, Meryem, Simon, Myriam, Jendoubi, Manel, Daunou, Blanche, Largy, Alexis, Figeac, Martin, Dubucquoi, Sylvain, Launay, David

Source: Frontiers in Immunology; 2024, p1-17, 17p

Subject Terms: IMMUNOGLOBULIN genes, B cells, EXTRACELLULAR matrix, GENETIC overexpression, SYSTEMIC scleroderma

Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function.

Authors: Meulebrouck, Sarah, Merrheim, Judith, Queniat, Gurvan, Bourouh, Cyril, Derhourhi, Mehdi, Boissel, Mathilde, Yi, Xiaoyan, Badreddine, Alaa, Boutry, Raphaël, Leloire, Audrey, Toussaint, Bénédicte, Amanzougarene, Souhila, Vaillant, Emmanuel, Durand, Emmanuelle, Loiselle, Hélène, Huyvaert, Marlène, Dechaume, Aurélie, Scherrer, Victoria, Marchetti, Piero, Balkau, Beverley

Source: Nature Communications; 8/5/2024, Vol. 15 Issue 1, p1-12, 12p

Subject Terms: TYPE 2 diabetes, NERVE growth factor, PANCREATIC beta cells, ISLANDS of Langerhans, METABOLIC disorders

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

Authors: Montagne, Louise, Derhourhi, Mehdi, Piton, Amélie, Toussaint, Bénédicte, Durand, Emmanuelle, Vaillant, Emmanuel, Thuillier, Dorothée, Gaget, Stefan, De Graeve, Franck, Rabearivelo, Iandry, Lansiaux, Amélie, Lenne, Bruno, Sukno, Sylvie, Desailloud, Rachel, Cnop, Miriam, Nicolescu, Ramona, Cohen, Lior, Zagury, Jean-François, Amouyal, Mélanie, Weill, Jacques, Muller, Jean, Sand, Olivier, Delobel, Bruno, Froguel, Philippe, Bonnefond, Amélie

Source: In Molecular Metabolism July 2018 13:1-9

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

Authors: Baron, Morgane, Maillet, Julie, Huyvaert, Marlène, Dechaume, Aurélie, Boutry, Raphaël, Loiselle, Hélène, Durand, Emmanuelle, Toussaint, Bénédicte, Vaillant, Emmanuel, Philippe, Julien, Thomas, Jérémy, Ghulam, Amjad, Franc, Sylvia, Charpentier, Guillaume, Borys, Jean-Michel, Lévy-Marchal, Claire, Tauber, Maïthé, Scharfmann, Raphaël, Weill, Jacques, Aubert, Cécile, Kerr-Conte, Julie, Pattou, François, Roussel, Ronan, Balkau, Beverley, Marre, Michel, Boissel, Mathilde, Derhourhi, Mehdi, Gaget, Stefan, Canouil, Mickaël, Froguel, Philippe, Bonnefond, Amélie

Source: Nature medicine. 25(11):1733-1738

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190942125.0x000001&indx=1&recIds=ETOCvdc_100190942125.0x000001

Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics

Authors: Dance, Arnaud, Fernandes, Justine, Toussaint, Bénédicte, Vaillant, Emmanuel, Boutry, Raphaël, Baron, Morgane, Loiselle, Hélène, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Ibberson, Mark, Marre, Michel, Gernay, Marie, Fadeur, Marjorie, Paquot, Nicolas, Vaxillaire, Martine, Boissel, Mathilde, Amanzougarene, Souhila, Derhourhi, Mehdi, Khamis, Amna, Froguel, Philippe, Bonnefond, Amélie

Source: In Molecular Metabolism January 2024 79

Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes.

Authors: Folon, Lise, Baron, Morgane, Scherrer, Victoria, Toussaint, Bénédicte, Vaillant, Emmanuel, Loiselle, Hélène, Dechaume, Aurélie, De Pooter, Frédérique, Boutry, Raphaël, Boissel, Mathilde, Diallo, Aboubacar, Ning, Lijiao, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Derhourhi, Mehdi, Froguel, Philippe, Bonnefond, Amélie

Source: Diabetes Care; Mar2024, Vol. 47 Issue 3, p444-451, 8p

Subject Terms: TYPE 2 diabetes, MEDICAL genomics, MEDICAL genetics, GENETIC variation, ODDS ratio

Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas.

Authors: Meulebrouck, Sarah, Scherrer, Victoria, Boutry, Raphaël, Toussaint, Bénédicte, Vaillant, Emmanuel, Dechaume, Aurélie, Loiselle, Hélène, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Baron, Morgane, Vaxillaire, Martine, Derhourhi, Mehdi, Boissel, Mathilde, Froguel, Philippe, Bonnefond, Amélie

Source: Diabetologia; Feb2024, Vol. 67 Issue 2, p327-332, 6p

Biallelic Mutations in P4HTM Cause Syndromic Obesity.

Authors: Saeed, Sadia, Lijiao Ning, Badreddine, Alaa, Mirza, Muhammad Usman, Boissel, Mathilde, Khanam, Roohia, Manzoor, Jaida, Janjua, Qasim M., Khan, Waqas I., Toussaint, Bénédicte, Vaillant, Emmanuel, Amanzougarene, Souhila, Derhourhi, Mehdi, Trant, John F., Siegert, Anna-Maria, Lam, Brian Y. H., Yeo, Giles S. H., Chabraoui, Layachi, Touzani, Asmae, Kulkarni, Abhishek

Source: Diabetes; Sep2023, Vol. 72 Issue 9, p1228-1234, 7p

Contribution of heterozygous PCSK1variants to obesity and implications for precision medicine: a case-control study

Authors: Folon, Lise, Baron, Morgane, Toussaint, Bénédicte, Vaillant, Emmanuel, Boissel, Mathilde, Scherrer, Victoria, Loiselle, Hélène, Leloire, Audrey, Badreddine, Alaa, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Aboulouard, Soulaimane, Salzet, Michel, Canouil, Mickaël, Derhourhi, Mehdi, Froguel, Philippe, Bonnefond, Amélie

Source: The Lancet Diabetes & Endocrinology; March 2023, Vol. 11 Issue: 3 p182-190, 9p

Variability in urinary excretion of bone resorption markers: limitations of a single determination in clinical practice

Authors: Borderie, Didier, Roux, Christian, Toussaint, Benedicte, Dougados, Maxime, Ekindjian, Ohvanesse G, Cherruau, Brigitte ^*

Source: In Clinical Biochemistry 2001 34(7):571-577

Mutations exomiques rares transmises au sein de familles de type MODY : analyse de corrélation avec la variabilité phénotypique et les défauts métaboliques précoces

Authors: Vaxillaire, Martine, Lecoeur, Cécile, Durand, Emmanuelle, Vaillant, Emmanuel, Toussaint, Bénédicte, Leloire, Audrey, De Graeve, Franck, Rabearivelo, Iandry, Sand, Olivier, Bonnefond, Amélie, Froguel, Philippe

Source: Diabetes & metabolism. 43(2):A16-A16

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100047687931.0x000001&indx=1&recIds=ETOCvdc_100047687931.0x000001

Loss-of-function mutations in MRAP2are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

Authors: Baron, Morgane, Maillet, Julie, Huyvaert, Marlène, Dechaume, Aurélie, Boutry, Raphaël, Loiselle, Hélène, Durand, Emmanuelle, Toussaint, Bénédicte, Vaillant, Emmanuel, Philippe, Julien, Thomas, Jérémy, Ghulam, Amjad, Franc, Sylvia, Charpentier, Guillaume, Borys, Jean-Michel, Lévy-Marchal, Claire, Tauber, Maïthé, Scharfmann, Raphaël, Weill, Jacques, Aubert, Cécile, Kerr-Conte, Julie, Pattou, François, Roussel, Ronan, Balkau, Beverley, Marre, Michel, Boissel, Mathilde, Derhourhi, Mehdi, Gaget, Stefan, Canouil, Mickaël, Froguel, Philippe, Bonnefond, Amélie

Source: Nature Medicine; November 2019, Vol. 25 Issue: 11 p1733-1738, 6p

CO-40 - Mutations exomiques rares transmises au sein de familles de type MODY : analyse de corrélation avec la variabilité phénotypique et les défauts métaboliques précoces

Authors: Vaxillaire, Martine, Lecoeur, Cécile, Durand, Emmanuelle, Vaillant, Emmanuel, Toussaint, Bénédicte, Leloire, Audrey, De Graeve, Franck, Rabearivelo, Iandry, Sand, Olivier, Bonnefond, Amélie, Froguel, Philippe

Source: In Diabetes and Metabolism March 2017 43(2) Supplement:A16-A16