Search Results - "VARRET, Mathilde"

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections by Barbier, Mathieu, Gross, Marie-Sylvie, Aubart, Mélodie, Hanna, Nadine, Kessler, Ketty, Guo, Dong-Chuan, Tosolini, Laurent, Ho-Tin-Noe, Benoit, Regalado, Ellen, Varret, Mathilde, Abifadel, Marianne, Milleron, Olivier, Odent, Sylvie, Dupuis-Girod, Sophie, Faivre, Laurence, Edouard, Thomas, Dulac, Yves, Busa, Tiffany, Gouya, Laurent, Milewicz, Dianna M., Jondeau, Guillaume, Boileau, Catherine

“…Thoracic aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with major life-threatening complications. The disease displays great genetic…”
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Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease by Abifadel, Marianne, Rabès, Jean-Pierre, Devillers, Martine, Munnich, Arnold, Erlich, Danièle, Junien, Claudine, Varret, Mathilde, Boileau, Catherine

“…Hypercholesterolemia is one of the major causes of coronary heart disease (CHD). The genes encoding the low-density lipoprotein receptor and its ligand…”
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A tentative tracking of the SARS-Cov2 pandemic in France, based on a corrected SIR model including vaccination effects by Varret, Mathilde, Martin, François Xavier, Varret, François

“…We developed successive extensions of the SIR model in order to track the dynamics of the SARS-Cov2 disease. The analysis of health system available data is…”
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Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm by Elbitar, Sandy, Renard, Marjolijn, Arnaud, Pauline, Hanna, Nadine, Jacob, Marie-Paule, Guo, Dong-Chuan, Tsutsui, Ko, Gross, Marie-Sylvie, Kessler, Ketty, Tosolini, Laurent, Dattilo, Vincenzo, Dupont, Sebastien, Jonquet, Jeremie, Langeois, Maud, Benarroch, Louise, Aubart, Melodie, Ghaleb, Youmna, Abou Khalil, Yara, Varret, Mathilde, El Khoury, Petra, Ho-Tin-Noé, Benoit, Alembik, Yves, Gaertner, Sébastien, Isidor, Bertrand, Gouya, Laurent, Milleron, Olivier, Sekiguchi, Kiyotoshi, Milewicz, Dianna, De Backer, Julie, Le Goff, Carine, Michel, Jean-Baptiste, Jondeau, Guillaume, Sakai, Lynn Y., Boileau, Catherine, Abifadel, Marianne

“…Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening disease with often unrecognized inherited forms. We sought to identify novel pathogenic…”
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Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs by Abifadel, Marianne, Elbitar, Sandy, El Khoury, Petra, Ghaleb, Youmna, Chémaly, Mélody, Moussalli, Marie-Line, Rabès, Jean-Pierre, Varret, Mathilde, Boileau, Catherine

“…A decade after our discovery of the involvement of proprotein convertase subtilisin/kexin type 9 (PCSK9) in cholesterol metabolism through the identification…”
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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia by Moulin, Philippe, Wickham, Louise, Bruckert, Eric, Lecerf, Jean-Michel, Krempf, Michel, Varret, Mathilde, Chambaz, Jean, Allard, Delphine, Derré, Aurélie, Rabès, Jean-Pierre, Villéger, Ludovic, Junien, Claudine, Erlich, Danièle, Beucler, Isabel, Cruaud, Corinne, Benjannet, Suzanne, Farnier, Michel, Ouguerram, Khadija, Devillers, Martine, Boileau, Catherine, Luc, Gerald, Weissenbach, Jean, Abifadel, Marianne, Prat, Annick, Chanu, Bernard, Seidah, Nabil G

“…Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein…”
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APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia by Abou Khalil, Yara, Marmontel, Oriane, Ferrières, Jean, Paillard, François, Yelnik, Cécile, Carreau, Valérie, Charrière, Sybil, Bruckert, Eric, Gallo, Antonio, Giral, Philippe, Philippi, Anne, Bluteau, Olivier, Boileau, Catherine, Abifadel, Marianne, Di-Filippo, Mathilde, Carrié, Alain, Rabès, Jean-Pierre, Varret, Mathilde

“…Primary hypercholesterolemia is characterized by elevated LDL-cholesterol (LDL-C) levels isolated in autosomal dominant hypercholesterolemia (ADH) or…”
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Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia by Abifadel, Marianne, Guerin, Maryse, Benjannet, Suzanne, Rabès, Jean-Pierre, Le Goff, Wilfried, Julia, Zélie, Hamelin, Josée, Carreau, Valérie, Varret, Mathilde, Bruckert, Eric, Tosolini, Laurent, Meilhac, Olivier, Couvert, Philippe, Bonnefont-Rousselot, Dominique, Chapman, John, Carrié, Alain, Michel, Jean-Baptiste, Prat, Annik, Seidah, Nabil G, Boileau, Catherine

“…Abstract Background The identification of mutations in PCSK9 (proprotein convertase subtilisin kexin9) in autosomal dominant hypercholesterolemia (ADH), has…”
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Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France by Marduel, Marie, Carrié, Alain, Sassolas, Agnes, Devillers, Martine, Carreau, Valérie, Di Filippo, Mathilde, Erlich, Danièle, Abifadel, Marianne, Marques‐Pinheiro, Alice, Munnich, Arnold, Junien, Claudine, Boileau, Catherine, Varret, Mathilde, Rabès, Jean‐Pierre

“…Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is…”
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New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia by Elbitar, Sandy, Susan-Resiga, Delia, Ghaleb, Youmna, El Khoury, Petra, Peloso, Gina, Stitziel, Nathan, Rabès, Jean-Pierre, Carreau, Valérie, Hamelin, Josée, Ben-Djoudi-Ouadda, Ali, Bruckert, Eric, Boileau, Catherine, Seidah, Nabil G., Varret, Mathilde, Abifadel, Marianne

“…Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated LDL-C levels leading to coronary heart disease. Four genes are implicated in ADH:…”
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Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon by Ayoub, Carine, Azar, Yara, Maddah, Dina, Ghaleb, Youmna, Elbitar, Sandy, Abou-Khalil, Yara, Jambart, Selim, Varret, Mathilde, Boileau, Catherine, El Khoury, Petra, Abifadel, Marianne

“…Familial chylomicronemia syndrome is a rare autosomal recessive disorder of lipoprotein metabolism characterized by the presence of chylomicrons in fasting…”
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Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease) by Georges, Amandine, Bonneau, Jessica, Bonnefont-Rousselot, Dominique, Champigneulle, Jacqueline, Rabès, Jean P, Abifadel, Marianne, Aparicio, Thomas, Guenedet, Jean C, Bruckert, Eric, Boileau, Catherine, Morali, Alain, Varret, Mathilde, Aggerbeck, Lawrence P, Samson-Bouma, Marie E

“…Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in…”
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Circulating PCSK9 Linked to Dyslipidemia in Lebanese Schoolchildren by Azar, Yara, Gannagé-Yared, Marie-Hélène, Naous, Elie, Ayoub, Carine, Abou Khalil, Yara, Chahine, Elise, Elbitar, Sandy, Ghaleb, Youmna, Boileau, Catherine, Varret, Mathilde, El Khoury, Petra, Abifadel, Marianne

“…In adults, elevated levels of circulating Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) have been associated with increased Low-density lipoprotein…”
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Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families by Ayoub, Carine, Azar, Yara, Abou-Khalil, Yara, Ghaleb, Youmna, Elbitar, Sandy, Halaby, Georges, Jambart, Selim, Gannagé-Yared, Marie-Hélène, Yaghi, Cesar, Saade Riachy, Carole, El Khoury, Ralph, Rabès, Jean-Pierre, Varret, Mathilde, Boileau, Catherine, El Khoury, Petra, Abifadel, Marianne

“…Familial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder characterized by reduced plasma levels of low-density lipoprotein cholesterol and…”
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Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families by Di Filippo, Mathilde, Varret, Mathilde, Boehm, Vanessa, Rabès, Jean-Pierre, Ferkdadji, Latifa, Abramowitz, Laurent, Dumont, Sabrina, Lenaerts, Catherine, Boileau, Catherine, Joly, Francisca, Schmitz, Jacques, Samson-Bouma, Marie-Elisabeth, Bonnefont-Rousselot, Dominique

“…Abetalipoproteinemia, a recessive disease resulting from deleterious variants in MTTP (microsomal triglyceride transfer protein), is characterized by…”
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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia by Ghaleb, Youmna, Elbitar, Sandy, Philippi, Anne, El Khoury, Petra, Azar, Yara, Andrianirina, Miangaly, Loste, Alexia, Abou-Khalil, Yara, Nicolas, Gaël, Le Borgne, Marie, Moulin, Philippe, Di-Filippo, Mathilde, Charrière, Sybil, Farnier, Michel, Yelnick, Cécile, Carreau, Valérie, Ferrières, Jean, Lecerf, Jean-Michel, Derksen, Alexa, Bernard, Geneviève, Gauthier, Marie-Soleil, Coulombe, Benoit, Lütjohann, Dieter, Fin, Bertrand, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Rabès, Jean-Pierre, Boileau, Catherine, Abifadel, Marianne, Varret, Mathilde

“…Autosomal Dominant Hypercholesterolemia (ADH) is a genetic disorder caused by pathogenic variants in , , and genes. We sought to identify new candidate genes…”
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Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients by Slimani, Afef, Jelassi, Awatef, Jguirim, Imen, Najah, Mohamed, Rebhi, Lamia, Omezzine, Asma, Maatouk, Faouzi, Hamda, Khaldoun Ben, Kacem, Maha, Rabès, Jean-Pierre, Abifadel, Marianne, Boileau, Catherine, Rouis, Mustapha, Slimane, Mohamed Naceur, Varret, Mathilde

“…Highlights ► Phenotypic expression in Tunisian familial hypercholesterolemia varied widely. ► We identified a new putative loss of function mutation in PCSK9…”
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Angiotensin-Converting Enzyme Gene Does Not Contribute to Genetic Susceptibility to Systemic Sclerosis in European Caucasians by WIPFF, Julien, GALLIER, Guillaume, MEYER, Olivier, KAHAN, Andre, VARRET, Mathilde, BOILEAU, Catherine, ALLANORE, Yannick, DIEUDE, Philippe, AVOUAC, Jerome, TIEV, Kiet, HACHULLA, Eric, GRANEL, Brigitte, DIOT, Elisabeth, SIBILIA, Jean, MOUTHON, Luc

“…Objective. To determine whether angiotensin-converting enzyme (ACE) polymorphisms including I/D and 2 single-nucleotide polymorphisms (SNP) affect…”
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Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population by Jelassi, Awatef, Najah, Mohamed, Slimani, Afef, Jguirim, Imen, Slimane, Mohamed Naceur, Varret, Mathilde

“…Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic lowdensity lipoprotein (LDL), which predisposes to…”
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A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32 by Varret, Mathilde, Rabès, Jean-Pierre, Saint-Jore, Bruno, Cenarro, Ana, Marinoni, Jean-Christophe, Civeira, Fernando, Devillers, Martine, Krempf, Michel, Coulon, Monique, Thiart, Rochelle, Kotze, Maritha J., Schmidt, Helena, Buzzi, Jean-Claude, Kostner, Gert M., Bertolini, Stephano, Pocovi, Miguel, Rosa, Alberto, Farnier, Michel, Martinez, Maria, Junien, Claudine, Boileau, Catherine

“…Autosomal dominant hypercholesterolemia (ADH), one of the most frequent hereditary disorders, is characterized by an isolated elevation of LDL particles that…”
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