Search Results - "Badreddine, Alaa"

Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function by 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, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Roussel, Ronan, Scharfmann, Raphaël, Cnop, Miriam, Canouil, Mickaël, Baron, Morgane, Froguel, Philippe, Bonnefond, Amélie

“…Functional genetics has identified drug targets for metabolic disorders. Opioid use impacts metabolic homeostasis, although mechanisms remain elusive. Here, we…”
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Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis by Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine

“…We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative…”
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Pharmacological HDAC inhibition impairs pancreatic β-cell function through an epigenome-wide reprogramming by Oger, Frédérik, Moreno, Maeva, Derhourhi, Mehdi, Thiroux, Bryan, Berberian, Lionel, Bourouh, Cyril, Durand, Emmanuelle, Amanzougarene, Souhila, Badreddine, Alaa, Blanc, Etienne, Molendi-Coste, Olivier, Pineau, Laurent, Pasquetti, Gianni, Rolland, Laure, Carney, Charlène, Bornaque, Florine, Courty, Emilie, Gheeraert, Céline, Eeckhoute, Jérôme, Dombrowicz, David, Kerr-Conte, Julie, Pattou, François, Staels, Bart, Froguel, Philippe, Bonnefond, Amélie, Annicotte, Jean-Sébastien

“…Histone deacetylases enzymes (HDACs) are chromatin modifiers that regulate gene expression through deacetylation of lysine residues within specific histone and…”
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Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan by Saeed, Sadia, Janjua, Qasim M, Haseeb, Attiya, Khanam, Roohia, Durand, Emmanuelle, Vaillant, Emmanuel, Ning, Lijiao, Badreddine, Alaa, Berberian, Lionel, Boissel, Mathilde, Amanzougarene, Souhila, Canouil, Mickaël, Derhourhi, Mehdi, Bonnefond, Amélie, Arslan, Muhammad, Froguel, Philippe

“…Recent advances in genetic analysis have significantly helped in progressively attenuating the heritability gap of obesity and have brought into focus…”
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Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan by Saeed, Sadia, Arslan, Muhammad, Manzoor, Jaida, Din, Sadia M, Janjua, Qasim M, Ayesha, Hina, Ain, Qura-Tul, Inam, Laraib, Lobbens, Stephane, Vaillant, Emmanuel, Durand, Emmanuelle, Derhourhi, Mehdi, Amanzougarene, Souhila, Badreddine, Alaa, Berberian, Lionel, Gaget, Stefan, Khan, Waqas I, Butt, Taeed A, Bonnefond, Amélie, Froguel, Philippe

“…Monogenic forms of obesity have been identified in ≤10% of severely obese European patients. However, the overall spectrum of deleterious variants (point…”
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Biallelic Mutations in P4HTM Cause Syndromic Obesity by Saeed, Sadia, Ning, Lijiao, 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, Farooqi, I Sadaf, Bonnefond, Amélie, Arslan, Muhammad, Froguel, Philippe

“…We previously demonstrated that 50% of children with obesity from consanguineous families from Pakistan carry pathogenic variants in known monogenic obesity…”
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Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis by Cornière, Nicolas, Thomson, R Brent, Thauvin, Stéphanie, Villoutreix, Bruno O, Karp, Sophie, Dynia, Diane W, Burlein, Sarah, Brinkmann, Lennart, Badreddine, Alaa, Dechaume, Aurélie, Derhourhi, Mehdi, Durand, Emmanuelle, Vaillant, Emmanuel, Froguel, Philippe, Chambrey, Régine, Aronson, Peter S, Bonnefond, Amélie, Eladari, Dominique

“…Nephrolithiasis (NL) is a complex multifactorial disease affecting up to 10%-20% of the human population and causing a significant burden on public health…”
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Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study by 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

“…Rare biallelic pathogenic mutations in PCSK1 (encoding proprotein convertase subtilisin/kexin type 1 [PC1/3]) cause early-onset obesity associated with various…”
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Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use by 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

“…Recessive deficiency of proopiomelanocortin (POMC) causes childhood-onset severe obesity. Cases can now benefit from the melanocortin 4 receptor agonist…”
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Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis by Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine

“…Abstract Background We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and…”
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Pharmacological HDAC inhibition impairs pancreatic β-cell function through an epigenome-wide reprogramming by Oger, Frédérik, Moreno, Maeva, Derhourhi, Mehdi, Thiroux, Bryan, Berberian, Lionel, Bourouh, Cyril, Durand, Emmanuelle, Amanzougarene, Souhila, Badreddine, Alaa, Blanc, Etienne, Molendi-Coste, Olivier, Pineau, Laurent, Pasquetti, Gianni, Rolland, Laure, Carney, Charlène, Bornaque, Florine, Courty, Emilie, Gheeraert, Céline, Eeckhoute, Jérôme, Dombrowicz, David, Kerr-Conte, Julie, Pattou, François, Staels, Bart, Froguel, Philippe, Bonnefond, Amélie, Annicotte, Jean-Sébastien

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Pharmacological HDAC inhibition impairs pancreatic β-cell function through an epigenome-wide reprogramming by Oger, Frédérik, Moreno, Maeva, Derhourhi, Mehdi, Thiroux, Bryan, Berberian, Lionel, Bourouh, Cyril, Durand, Emmanuelle, Amanzougarene, Souhila, Badreddine, Alaa, Blanc, Etienne, Molendi-Coste, Olivier, Pineau, Laurent, Pasquetti, Gianni, Rolland, Laure, Carney, Charlène, Bornaque, Florine, Courty, Emilie, Gheeraert, Céline, Eeckhoute, Jérôme, Dombrowicz, David, Kerr-Conte, Julie, Pattou, François, Staels, Bart, Froguel, Philippe, Bonnefond, Amélie, Annicotte, Jean-Sébastien

“…Histone deacetylases enzymes (HDACs) are chromatin modifiers that regulate gene expression through deacetylation of lysine residues within specific histone and…”
Get full text