1,645 results on '"Yves Jean"'
Search Results
2. Can some metabolic one-carbon cycle linked diseases be prevented? The impact of treating hypo-fertile couples carrying MTHFR SNPs with folic acid and 5-MTHF on outcomes in the offspring: a case retrospective series
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Clement, Arthur, Viot, Geraldine, Elder, Kay, Clement, Patrice, and Menezo, Yves Jean Rémi
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- 2024
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3. Unseen riverine risk: Spatio-temporal shifts of microplastic pollution and its bioavailability in freshwater fish within the Ikopa River urban system
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Rabezanahary, Andry Ny Aina, Kestemont, Patrick, Cornet, Valérie, Benali, Samira, Laby, Patrick, Randrianarivo, Ranjàna Hanitra, Mong, Yves Jean Michel, Raquez, Jean-Marie, and Missawi, Omayma
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- 2024
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4. Regulation of LRRK2 expression points to a functional role in human monocyte maturation.
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Jonathan Thévenet, Rosanna Pescini Gobert, Robertus Hooft van Huijsduijnen, Christoph Wiessner, and Yves Jean Sagot
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Medicine ,Science - Abstract
Genetic variants of Leucine-Rich Repeat Kinase 2 (LRRK2) are associated with a significantly enhanced risk for Parkinson disease, the second most common human neurodegenerative disorder. Despite major efforts, our understanding of LRRK2 biological function and regulation remains rudimentary. In the present study we analyze LRRK2 mRNA and protein expression in sub-populations of human peripheral blood mononuclear cells (PBMCs). LRRK2 mRNA and protein was found in circulating CD19(+) B cells and in CD14(+) monocytes, whereas CD4(+) and CD8(+) T cells were devoid of LRRK2 mRNA. Within CD14(+) cells the CD14(+)CD16(+) sub-population of monocytes exhibited high levels of LRRK2 protein, in contrast to CD14(+)CD16(-) cells. However both populations expressed LRRK2 mRNA. As CD14(+)CD16(+) cells represent a more mature subset of monocytes, we monitored LRRK2 expression after in vitro treatment with various stress factors known to induce monocyte activation. We found that IFN-γ in particular robustly increased LRRK2 mRNA and protein levels in monocytes concomitant with a shift of CD14(+)CD16(-) cells towards CD14(+)CD16(+) cells. Interestingly, the recently described LRRK2 inhibitor IN-1 attenuated this shift towards CD14(+)CD16(+) after IFN-γ stimulation. Based on these findings we speculate that LRRK2 might have a role in monocyte maturation. Our results provide further evidence for the emerging role of LRRK2 in immune cells and regulation at the transcriptional and translational level. Our data might also reflect an involvement of peripheral and brain immune cells in the disease course of PD, in line with increasing awareness of the role of the immune system in PD.
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- 2011
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5. Deciphering the U-Pb dates of sedimentary phosphates: A complex example from the Upper Cretaceous-Lower Paleogene series in northwestern Morocco
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Aubineau, Jérémie, Séranne, Michel, Chi Fru, Ernest, Poujol, Marc, El Bamiki, Radouan, Antonio, Paul Yves Jean, Muñoz, Manuel, Elghali, Abdellatif, Raji, Otmane, Jourani, Es-Said, Bodinier, Jean-Louis, and Parat, Fleurice
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- 2024
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6. The deformed alkaline Balda granite (Northern Cameroon): A witness of back-arc basin in the northern part of Central African Orogenic Belt
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Bello, Aboubakar, Dawaï, Daouda, Antonio, Paul Yves Jean, Laurent, Oscar, Martinez Dopico, Carmen Irene, Tchameni, Rigobert, and Vanderhaeghe, Olivier
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- 2024
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7. Ferréol Gilles, Dir., La parole en sociologie. Recherches et débats
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Yves Jean Belœil-Benoist
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Anthropology ,GN1-890 ,Sociology (General) ,HM401-1281 - Published
- 2007
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8. Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature
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Cavaillé, Mathias, Crampon, Delphine, Achim, Viorel, Bubien, Virginie, Uhrhammer, Nancy, Privat, Maud, Ponelle-Chachuat, Flora, Gay-Bellile, Mathilde, Lepage, Mathis, Ouedraogo, Zangbéwendé Guy, Jones, Natalie, Bidet, Yannick, Sevenet, Nicolas, and Bignon, Yves-Jean
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- 2023
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9. Unraveling one billion years of geological evolution of the southeastern Amazonia Craton from detrital zircon analyses
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Rossignol, Camille, Antonio, Paul Yves Jean, Narduzzi, Francesco, Rego, Eric Siciliano, Teixeira, Lívia, de Souza, Romário Almeida, Ávila, Janaína N., Silva, Marco A.L., Lana, Cristiano, Trindade, Ricardo I.F., and Philippot, Pascal
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- 2022
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10. Health management of patients with COVID-19: is there a room for hydrotherapeutic approaches?
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Bailly, Mélina, Evrard, Bertrand, Coudeyre, Emmanuel, Rochette, Corinne, Meriade, Laurent, Blavignac, Christelle, Fournier, Anne-Cécile, Bignon, Yves-Jean, Dutheil, Frédéric, Duclos, Martine, and Thivel, David
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- 2022
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11. Fungal Infections Caused by Kazachstania spp., Strasbourg, France, 2007-2020
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Kaeuffer, Charlotte, Baldacini, Mathieu, Ruge, Tiffany, Ruch, Yvon, Zhu, Yves-Jean, De Cian, Manon, Philouze, Guillaume, Bachellier, Philippe, Denis, Julie, Lefebvre, Nicolas, Schneider, Francis, Hansmann, Yves, Letscher-Bru, Valerie, Herbrecht, Raoul, Sabou, Marcela, and Danion, Francois
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Yeast fungi -- Statistics -- Identification and classification ,Mycoses -- Statistics -- Causes of ,Health - Abstract
Incidence of invasive fungal infections (IFI) has increased over the past 2 decades, mostly associated with candidemia (1). Rare fungal pathogens have also emerged as agents causing IFI, notably in [...]
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- 2022
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12. Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
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Caputo, Sandrine M., Golmard, Lisa, Léone, Mélanie, Damiola, Francesca, Guillaud-Bataille, Marine, Revillion, Françoise, Rouleau, Etienne, Derive, Nicolas, Buisson, Adrien, Basset, Noémie, Schwartz, Mathias, Vilquin, Paul, Garrec, Celine, Privat, Maud, Gay-Bellile, Mathilde, Abadie, Caroline, Abidallah, Khadija, Airaud, Fabrice, Allary, Anne-Sophie, Barouk-Simonet, Emmanuelle, Belotti, Muriel, Benigni, Charlotte, Benusiglio, Patrick R., Berthemin, Christelle, Berthet, Pascaline, Bertrand, Ophelie, Bézieau, Stéphane, Bidart, Marie, Bignon, Yves-Jean, Birot, Anne-Marie, Blanluet, Maud, Bloucard, Amelie, Bombled, Johny, Bonadona, Valerie, Bonnet, Françoise, Bonnet-Dupeyron, Marie-Noëlle, Boulaire, Manon, Boulouard, Flavie, Bouras, Ahmed, Bourdon, Violaine, Brahimi, Afane, Brayotel, Fanny, Bressac de Paillerets, Brigitte, Bronnec, Noémie, Bubien, Virginie, Buecher, Bruno, Cabaret, Odile, Carriere, Jennifer, Chiesa, Jean, Chieze-Valéro, Stephanie, Cohen, Camille, Cohen-Haguenauer, Odile, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Conoy, Anne-Laure, Coulet, Florence, Coupier, Isabelle, Crivelli, Louise, Cusin, Véronica, De Pauw, Antoine, Dehainault, Catherine, Delhomelle, Hélène, Delnatte, Capucine, Demontety, Sophie, Denizeau, Philippe, Devulder, Pierre, Dreyfus, Helene, d’Enghein, Catherine Dubois, Dupré, Anaïs, Durlach, Anne, Dussart, Sophie, Fajac, Anne, Fekairi, Samira, Fert-Ferrer, Sandra, Fiévet, Alice, Fouillet, Robin, Mouret-Fourme, Emmanuelle, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Goldbarg, Veronica, Goussot, Vincent, Guibert, Virginie, Guillerm, Erell, Guy, Christophe, Hardouin, Agnès, Heude, Céline, Houdayer, Claude, Ingster, Olivier, Jacquot-Sawka, Caroline, Jones, Natalie, Krieger, Sophie, Lacoste, Sofiane, Lallaoui, Hakima, Larbre, Helene, Laugé, Anthony, Le Guyadec, Gabrielle, Le Mentec, Marine, Lecerf, Caroline, Le Gall, Jessica, Legendre, Bérengère, Legrand, Clémentine, Legros, Angélina, Lejeune, Sophie, Lidereau, Rosette, Lignon, Norbert, Limacher, Jean-Marc, Doriane Livon, Lizard, Sarab, Longy, Michel, Lortholary, Alain, Macquere, Pierre, Mailliez, Audrey, Malsa, Sarah, Margot, Henri, Mari, Véronique, Maugard, Christine, Meira, Cindy, Menjard, Julie, Molière, Diane, Moncoutier, Virginie, Moretta-Serra, Jessica, Muller, Etienne, Nevière, Zoe, Nguyen Minh Tuan, Thien-vu, Noguchi, Tetsuro, Noguès, Catherine, Oca, Florine, Popovici, Cornel, Prieur, Fabienne, Raad, Sabine, Rey, Jean-Marc, Ricou, Agathe, Salle, Lucie, Saule, Claire, Sevenet, Nicolas, Simaga, Fatoumata, Sobol, Hagay, Suybeng, Voreak, Tennevet, Isabelle, Tenreiro, Henrique, Tinat, Julie, Toulas, Christine, Turbiez, Isabelle, Uhrhammer, Nancy, Vande Perre, Pierre, Vaur, Dominique, Venat, Laurence, Viellard, Nicolas, Villy, Marie-Charlotte, Warcoin, Mathilde, Yvard, Alice, Zattara, Helene, Caron, Olivier, Lasset, Christine, Remenieras, Audrey, Boutry-Kryza, Nadia, Castéra, Laurent, and Stoppa-Lyonnet, Dominique
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- 2021
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13. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
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Lakeman, Inge M.M., van den Broek, Alexandra J., Vos, Juliën A.M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A., Chung, Wendy K., Claes, Kathleen B.M., Barouk-Simonet, Emmanuelle, Belotti, Muriel, Berthet, Pascaline, Bignon, Yves-Jean, Bonadona, Valérie, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Caron, Olivier, Castera, Laurent, Caux-Moncoutier, Virginie, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, de Pauw, Antoine, Delnatte, Capucine, Elan, Camille, Faivre, Laurence, Ferrer, Sandra Fert, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Golmard, Lisa, Houdayer, Claude, Lasset, Christine, Laurent, Maïté, Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Prieur, Fabienne, Pujol, Pascal, Saule, Claire, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Venat-Bouvet, Laurence, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brennan, Paul, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Dunning, Alison M., Eason, Jacqueline, Eccles, Diana M., Gregory, Helen, Hanson, Helen, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, O’Shaughnessy-Kirwan, Aoife, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Couch, Fergus J., Daly, Mary B., Dennis, Joe, Dhawan, Mallika, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hogervorst, Frans B.L., Hooning, Maartje J., Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Mulligan, Anna Marie, van Asperen, Christi J., Aalfs, Cora M., Adank, Muriel A., Ausems, Margreet G.E.M., Blok, Marinus J., Gómez Garcia, Encarna B., Heemskerk-Gerritsen, Bernadette A.M., Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Koudijs, Marco, Kriege, Mieke, Meijers-Heijboer, Hanne E.J., Mensenkamp, Arjen R., Mooij, Thea M., Oosterwijk, Jan C., van den Ouweland, Ans M.W., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H.M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte P., van Os, Theo A.M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Beesley, Jonathan, Fox, Stephen, Holland, Helene, Phillips, Kelly-Anne, Spurdle, Amanda B., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, Jiao, Yue, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kets, Carolien M., Konstantopoulou, Irene, Kwong, Ava, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, McGuffog, Lesley, Miller, Austin, Gomes, Denise Molina, Montagna, Marco, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue K., Parsons, Michael T., Peterlongo, Paolo, Piedmonte, Marion, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Schmutzler, Rita K., Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Teulé, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tung, Nadine, van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Bernstein, Jonine L., Offit, Kenneth, Easton, Douglas F., Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., Robson, Mark, and Schmidt, Marjanka K.
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- 2021
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14. Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
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Maximiliano Ribeiro Guerra, Juliette Coignard, Séverine Eon-Marchais, Marie-Gabrielle Dondon, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Muriel Belotti, Olivier Caron, Marion Gauthier-Villars, Isabelle Coupier, Bruno Buecher, Alain Lortholary, Jean-Pierre Fricker, Paul Gesta, Catherine Noguès, Laurence Faivre, Pascaline Berthet, Elisabeth Luporsi, Capucine Delnatte, Valérie Bonadona, Christine M. Maugard, Pascal Pujol, Christine Lasset, Michel Longy, Yves-Jean Bignon, Claude Adenis-Lavignasse, Laurence Venat-Bouvet, Hélène Dreyfus, Laurence Gladieff, Isabelle Mortemousque, Séverine Audebert-Bellanger, Florent Soubrier, Sophie Giraud, Sophie Lejeune-Dumoulin, Jean-Marc Limacher, Jean Chiesa, Anne Fajac, Anne Floquet, François Eisinger, Julie Tinat, Sandra Fert-Ferrer, Chrystelle Colas, Thierry Frebourg, Francesca Damiola, Laure Barjhoux, Eve Cavaciuti, Sylvie Mazoyer, Anne Tardivon, Fabienne Lesueur, Dominique Stoppa-Lyonnet, and Nadine Andrieu
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Breast cancer ,X-ray exposure ,Low dose ,High-risk population ,DNA repair genes ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Abstract Background Diagnostic ionizing radiation is a risk factor for breast cancer (BC). BC risk increases with increased dose to the chest and decreases with increased age at exposure, with possible effect modification related to familial or genetic predisposition. While chest X-rays increase the BC risk of BRCA1/2 mutation carriers compared to non-carriers, little is known for women with a hereditary predisposition to BC but who tested negative for a BRCA1 or BRCA2 (BRCA1/2) mutation. Methods We evaluated the effect of chest X-rays from diagnostic medical procedures in a dataset composed of 1552 BC cases identified through French family cancer clinics and 1363 unrelated controls. Participants reported their history of X-ray exposures in a detailed questionnaire and were tested for 113 DNA repair genes. Logistic regression and multinomial logistic regression models were used to assess the association with BC. Results Chest X-ray exposure doubled BC risk. A 3% increased BC risk per additional exposure was observed. Being 20 years old or younger at first exposure or being exposed before first full-term pregnancy did not seem to modify this risk. Birth after 1960 or carrying a rare likely deleterious coding variant in a DNA repair gene other than BRCA1/2 modified the effect of chest X-ray exposure. Conclusion Ever/never chest X-ray exposure increases BC risk 2-fold regardless of age at first exposure and, by up to 5-fold when carrying 3 or more rare variants in a DNA repair gene. Further studies are needed to evaluate other DNA repair genes or variants to identify those which could modify radiation sensitivity. Identification of subpopulations that are more or less susceptible to ionizing radiation is important and potentially clinically relevant.
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- 2021
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15. New high-quality paleomagnetic data from the Borborema Province (NE Brazil): Refinement of the APW path of Gondwana in the Early Cambrian
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Antonio, Paul Yves Jean, Trindade, Ricardo Ivan Ferreira, Giacomini, Bruno, Brandt, Daniele, and Tohver, Eric
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- 2021
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16. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
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Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.
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- 2021
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17. West Africa in Rodinia: High quality paleomagnetic pole from the ~ 860 Ma Manso dyke swarm (Ghana)
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Antonio, Paul Yves Jean, Baratoux, Lenka, Trindade, Ricardo Ivan Ferreira, Rousse, Sonia, Ayite, Anani, Lana, Cristiano, Macouin, Mélina, Adu, Emmanuel Williams Kobby, Sanchez, Caroline, Silva, Marco Antônio Leandro, Firmin, Anne-Sophie, Martínez Dopico, Carmen Irène, Proietti, Arnaud, Amponsah, Prince Ofori, and Sakyi, Patrick Asamoah
- Published
- 2021
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18. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
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Milne, Roger L, Kuchenbaecker, Karoline B, Michailidou, Kyriaki, Beesley, Jonathan, Kar, Siddhartha, Lindström, Sara, Hui, Shirley, Lemaçon, Audrey, Soucy, Penny, Dennis, Joe, Jiang, Xia, Rostamianfar, Asha, Finucane, Hilary, Bolla, Manjeet K, McGuffog, Lesley, Wang, Qin, Aalfs, Cora M, Adams, Marcia, Adlard, Julian, Agata, Simona, Ahmed, Shahana, Ahsan, Habibul, Aittomäki, Kristiina, Al-Ejeh, Fares, Allen, Jamie, Ambrosone, Christine B, Amos, Christopher I, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Auber, Bernd, Auer, Paul L, Ausems, Margreet GEM, Azzollini, Jacopo, Bacot, François, Balmaña, Judith, Barile, Monica, Barjhoux, Laure, Barkardottir, Rosa B, Barrdahl, Myrto, Barnes, Daniel, Barrowdale, Daniel, Baynes, Caroline, Beckmann, Matthias W, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Bignon, Yves-Jean, Blazer, Kathleen R, Blok, Marinus J, Blomqvist, Carl, Blot, William, Bobolis, Kristie, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Anders, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Bozsik, Aniko, Bradbury, Angela R, Brand, Judith S, Brauch, Hiltrud, Brenner, Hermann, Bressac-de Paillerets, Brigitte, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byun, Jinyoung, Cai, Qiuyin, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Canzian, Federico, Caron, Olivier, Carracedo, Angel, Carter, Brian D, Castelao, J Esteban, Castera, Laurent, Caux-Moncoutier, Virginie, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Xiaoqing, Cheng, Ting-Yuan David, Chiquette, Jocelyne, Christiansen, Hans, Claes, Kathleen BM, Clarke, Christine L, Conner, Thomas, Conroy, Don M, and Cook, Jackie
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Biological Sciences ,Genetics ,Cancer ,Human Genome ,Estrogen ,Prevention ,Clinical Research ,Cancer Genomics ,Women's Health ,Breast Cancer ,2.1 Biological and endogenous factors ,BRCA1 Protein ,Breast Neoplasms ,Female ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Heterozygote ,Humans ,Mutation ,Polymorphism ,Single Nucleotide ,Receptors ,Estrogen ,Risk Factors ,White People ,ABCTB Investigators ,EMBRACE ,GEMO Study Collaborators ,HEBON ,kConFab/AOCS Investigators ,NBSC Collaborators ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
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- 2017
19. Clinical practice guidelines for BRCA1 and BRCA2 genetic testing
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Pujol, Pascal, Barberis, Massimo, Beer, Philp, Friedman, Eitan, Piulats, Josep M., Capoluongo, Ettore D., Garcia Foncillas, Jesus, Ray-Coquard, Isabelle, Penault-Llorca, Frédérique, Foulkes, William D., Turnbull, Clare, Hanson, Helen, Narod, Steven, Arun, Banu K., Aapro, Matti S., Mandel, Jean-Louis, Normanno, Nicola, Lambrechts, Diether, Vergote, Ignace, Anahory, Michèle, Baertschi, Bernard, Baudry, Karen, Bignon, Yves-Jean, Bollet, Marc, Corsini, Carole, Cussenot, Olivier, De la Motte Rouge, Thibault, Duboys de Labarre, Marie, Duchamp, Florence, Duriez, Clarisse, Fizazi, Karim, Galibert, Virginie, Gladieff, Laurence, Gligorov, Joseph, Hammel, Pascal, Imbert-Bouteille, Marion, Jacot, William, Kogut-Kubiak, Tatiana, Lamy, Pierre-Jean, Nambot, Sophie, Neuzillet, Yann, Olschwang, Sylviane, Rebillard, Xavier, Rey, Jean-Marc, Rideau, Chloé, Spano, Jean-Philippe, Thomas, Frédéric, Treilleux, Isabelle, Vandromme, Marion, Vendrell, Julie, Vintraud, Michèle, Zarca, Daniel, Hughes, Kevin S., and Alés Martínez, Jose E.
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- 2021
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20. Harsh or balmy weathering conditions onto the first continent surface?
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Fabre, Sébastien, Antonio, Paul Yves Jean, and Hir, Guillaume Le
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- 2021
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21. MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa)
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Colas, Chrystelle, Bonadona, Valérie, Baert-Desurmont, Stéphanie, Bonnet, Delphine, Coulet, Florence, Dhooge, Marion, Saurin, Jean-Christophe, Remenieras, Audrey, Bignon, Yves-Jean, Caron, Olivier, De Pauw, Antoine, Buisine, Marie-Pierre, and Buecher, Bruno
- Published
- 2020
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22. La polypose associée à MUTYH : synthèse et actualisation des recommandations françaises établies en 2012 sous l’égide de l’Institut national du cancer (INCa)
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Buisine, Marie-Pierre, Bonadona, Valérie, Baert-Desurmont, Stéphanie, Bonnet, Delphine, Coulet, Florence, Dhooge, Marion, Saurin, Jean-Christophe, Remenieras, Audrey, Bignon, Yves-Jean, Caron, Olivier, De Pauw, Antoine, Colas, Chrystelle, and Buecher, Bruno
- Published
- 2020
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23. RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis
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Privat, Maud, primary, Ponelle-Chachuat, Flora, additional, Viala, Sandrine, additional, Uhrhammer, Nancy, additional, Lepage, Mathis, additional, Cayre, Anne, additional, Bidet, Yannick, additional, Bignon, Yves-Jean, additional, Gay-Bellile, Mathilde, additional, and Cavaillé, Mathias, additional
- Published
- 2024
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24. Exploiting Genetic Interactions in Metabolic Engineering
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Cachera, Paul Pierre-Yves Jean and Cachera, Paul Pierre-Yves Jean
- Abstract
By assembling parts with given properties, engineers are able to build tools and devices of increasing complexity. For example, a simple Ikea table is assembled from pieces of wood, screws and bolts with precisely designed dimensions, diameters and thread angles. The properties of these parts do not change upon assembly, allowing for a predictable outcome: a table. This simple reductionist principle is also central to synthetic biology, the field interested in engineering living organisms. In synthetic biology, DNA sequences encoding biological parts found in the living world are copied, assembled and reintroduced in other organisms to engineer new biological functions. For example, the enzymes taking part into a metabolic pathway synthesising a plant pharmaceutical ingredient can be expressed in the yeast Saccharomyces cerevisiae allowing for its synthesis by cultivating the modified yeast in a bioreactor. The applicability of the reductionist approach underlying traditional engineering disciplines is however limited in synthetic biology. Indeed, the properties of biological parts are often dependent on the context of the host they are expressed in. For example, all parts expressed in a living host are synthesised from a family of building blocks (e.g. amino acids, lipids, sugars) which availability is not infinite. Cross-talk between parts might arise simply by competing for the same pool of resources. These interactions limit the predictability of designs and, in practice, many iterations of trial-and-error are often needed to engineer a synthetic biological mechanism. In experimental genetics, the unexpected outcome arising from the combination of two genetic modifications is known as a genetic interaction. Genetic interactions can be complex and often elude our understanding, even in well studied model organisms. Yet, in rare instances, they produce a surprisingly strong phenotype hinting that they may be exploite
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- 2024
25. Proust prÉsent.
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Harder, Yves-Jean
- Published
- 2024
26. An institution-based enquiry into concepts of proficiency, automaticity and second-language learning among dyslexic students
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Le Juen, Yves-Jean Gabriel
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370 ,LC4708 Dyslexic children and youth - Abstract
It is, for some, 'common knowledge' that dyslexic students cannot master a foreign language 'because' they cannot master their own. This study enquires into the assumption, and the 'because', above, and seeks other explanatory routes for dyslexic university students' difficulties with foreign language learning. Building on earlier work concerned with notions of 'automaticity' in relation to concepts of 'proficiency' in proficiency and dyslexia literatures, it relates these directly to second language teaching/learning concepts and discusses this in relation to 'phronetic', 'professional' and tacit' views of knowledge. The empirical part of the study comprises cross-comparison of four narrative sources: the narratives of a dozen dyslexic students engaged in a semi-structured, in-depth interview concerning their language difficulty and how they view it; a second narrative relating the voices of the advisors most directly linked to dyslexic language learners in the institution, also including past and future difficulties of some dyslexic students who may face a study year abroad, e.g. on Erasmus and similar schemes; a third interview with the then current head of the unit dealing with both English as a Foreign Language, and Modern Foreign Languages; and the over-arching narrative of the researcher – his story in conducting this study. Within this framework, the research uncovers how, at a practical level as well as theoretically, phronetic, teaching-learning and exceptional language-acquisition 'knowledge' may be open to subversion from several quarters: the pragmatics and economics of 3rd-level EFL and MFL1 language teaching; transposing child language acquisition concepts onto adult language learning ones; the cross- and/or mismatching of these with dyslexia ones; and the possible collision between some areas of professional knowledge – tacit or otherwise. The research shows how for the 'institutional dyslexics' concerned, and sometimes despite their advisors, the unit's academic director and the institution, automaticity is anterior to proficiency and agency is anterior to automaticity. Moreover reversing this, discovering or rediscovering their sense of agency allows certain of the dyslexic participants to attain a qualified measure of automaticity in their language studies and hence, of proficiency. These findings have important implications for those engaged in second language teaching and learning. The organisation of the thesis is as follows: in a first chapter which the researcher introduces with a short autobiography and an account of how the research came about, a broadly descriptive and factual introduction to the piece then summarises previous work in the doctoral degree particularly the critical analytical study, focusing the research questions, and discussing the relationship between methodology and methods, and begins a consideration of what a 'case' is, and what is the case here. Chapter 2 expands the theoretical focus with a discussion of the notion of coherentism and the notion of 'fit', and introduces issues in narrativity and in phronesis. Chapter 3 addresses understandings and terminologies in 'communicative' language teaching, cross-mapping these to both dyslexia and 'proficiency' issues previously discussed. Chapter 4 explores the data, and begins an assessment of the 'fit' between the respondents. Finally, Chapter 5 summarises and discusses the 'findings' of the research – what emerges from the research questions and what from their interpretation; how theoretical understandings now 'fit', or not; what else emerged during the study; what constitutes a finding; and returning to Chapter 1, asks to what extent the study is a foundationalist 'case' which can or should be 'generalisable'. A short discussion of further research avenues is presented.
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- 2012
27. Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma
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Pertesi, Maroulio, Vallée, Maxime, Wei, Xiaomu, Revuelta, Maria V., Galia, Perrine, Demangel, Delphine, Oliver, Javier, Foll, Matthieu, Chen, Siwei, Perrial, Emeline, Garderet, Laurent, Corre, Jill, Leleu, Xavier, Boyle, Eileen M., Decaux, Olivier, Rodon, Philippe, Kolb, Brigitte, Slama, Borhane, Mineur, Philippe, Voog, Eric, Le Bris, Catherine, Fontan, Jean, Maigre, Michel, Beaumont, Marie, Azais, Isabelle, Sobol, Hagay, Vignon, Marguerite, Royer, Bruno, Perrot, Aurore, Fuzibet, Jean-Gabriel, Dorvaux, Véronique, Anglaret, Bruno, Cony-Makhoul, Pascale, Berthou, Christian, Desquesnes, Florence, Pegourie, Brigitte, Leyvraz, Serge, Mosser, Laurent, Frenkiel, Nicole, Augeul-Meunier, Karine, Leduc, Isabelle, Leyronnas, Cécile, Voillat, Laurent, Casassus, Philippe, Mathiot, Claire, Cheron, Nathalie, Paubelle, Etienne, Moreau, Philippe, Bignon, Yves–Jean, Joly, Bertrand, Bourquard, Pascal, Caillot, Denis, Naman, Hervé, Rigaudeau, Sophie, Marit, Gérald, Macro, Margaret, Lambrecht, Isabelle, Cliquennois, Manuel, Vincent, Laure, Helias, Philippe, Avet-Loiseau, Hervé, Moreno, Victor, Reis, Rui Manuel, Varkonyi, Judit, Kruszewski, Marcin, Vangsted, Annette Juul, Jurczyszyn, Artur, Zaucha, Jan Maciej, Sainz, Juan, Krawczyk-Kulis, Malgorzata, Wątek, Marzena, Pelosini, Matteo, Iskierka-Jażdżewska, Elzbieta, Grząśko, Norbert, Martinez-Lopez, Joaquin, Jerez, Andrés, Campa, Daniele, Buda, Gabriele, Lesueur, Fabienne, Dudziński, Marek, García-Sanz, Ramón, Nagler, Arnon, Rymko, Marcin, Jamroziak, Krzysztof, Butrym, Aleksandra, Canzian, Federico, Obazee, Ofure, Nilsson, Björn, Klein, Robert J., Lipkin, Steven M., McKay, James D., and Dumontet, Charles
- Published
- 2019
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28. The 'extreme phenotype approach' applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles
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Martin Chevarin, Diana Alcantara, Juliette Albuisson, Marie-Agnès Collonge-Rame, Céline Populaire, Zohair Selmani, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Patrick Callier, Yannis Duffourd, Philippe Jonveaux, Yves-Jean Bignon, Isabelle Coupier, François Cornelis, Christophe Cordier, Monique Mozelle-Nivoix, Jean-Baptiste Rivière, Paul Kuentz, Christel Thauvin, Romain Boidot, François Ghiringhelli, Marc O'Driscoll, Laurence Faivre, and Sophie Nambot
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Oncology - Published
- 2023
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29. Microscopic imaging and photo-stimulation using micro-structured light emitting diodes
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Poher, Vincent Yves Jean
- Subjects
621.36 - Abstract
Recent developments in light emitting diode (LED) technology such as increasing improvements in brightness, UV operation and micro-structured array devices make LEDs very attractive illumination sources for a wide range of applications. This thesis describes the development and application of micro-structured LED technology as a patterned light source for confocal microscopy and photo-stimulation of neuron cells. Using lithographic techniques, light emitting diodes can be readily patterned into arrays of individual elements of order 20 microns in size. Several such programmable arrays are presented and tested, along with the ancillary drive electronics that were developed to allow the display of arbitrary light patterns on a timescale of tens of microseconds. A one-dimensional 120-element array of line emitters, is applied to obtain optically sectioned images in a fluorescence microscope with no moving parts. Several optical sectioning techniques are demonstrated, including grid-projection structured illumination microscopy and line scanning confocal microscopy. This latter technique is extended to multi-line illumination, and the concern about removing the remaining out-of-focus background leads to a new background subtraction technique that dramatically improves the sectioning strength and image contrast. The theory of optical sectioning by out-of-focus background subtraction under line-patterned illumination is developed, and it is shown that the performance converges towards that of the grid-projection structured illumination method for high fill-factor illumination patterns. This theory is used to propose the design of a double-sided spinning disk microscope that should enable confocal imaging at very high-frame rate with superior optical sectioning. A second application makes use of matrix addressable LED arrays for direct stimulation of neuron cells. Gallium-Nitride LED arrays are demonstrated to be realistic light sources for photo-stimulation that have clear advantages in terms of emission wavelengths, temporal response and spatial resolution. Micro-LED arrays enable very reliable photo-stimulation with sub-cellular resolution at a single cell level and selective neuron excitation at a network level. A long-term project to implement an LED based retinal prosthesis is presented.
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- 2008
30. Microbial cell factory optimisation using genome-wide host-pathway interaction screens
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Cachera, Paul Pierre-Yves Jean, primary, Kurt, Nikolaj Can, additional, Ropke, Andreas, additional, Strucko, Tomas, additional, Mortensen, Uffe Hasbro, additional, and Jensen, Michael Krogh, additional
- Published
- 2023
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31. Evaluation of Linkage of Breast Cancer to the Putative BRCA3 Locus on Chromosome 13q21 in 128 Multiple Case Families from the Breast Cancer Linkage Consortium
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Thompson, Deborah, Szabo, Csilla I., Mangion, Jon, Oldenburg, Rogier A., Odefrey, Fabrice, Seal, Sheila, Barfoot, Rita, Kroeze-Jansema, Karin, Teare, Dawn, Rahman, Nazneen, Renard, Hélène, Mann, Graham, Hopper, John L., Buys, Saundra S., Andrulis, Irene L., Senie, Ruby, Daly, Mary B., West, Dee, Ostrander, Elaine A., Offit, Ken, Peretz, Tamar, Osorio, Ana, Benitez, J., Nathanson, Katherine L., Sinilnikova, Olga M., Oláh, Edith, Bignon, Yves-Jean, Ruiz, Pablo, Badzioch, Michael D., Futreal, Andrew P., Phelan, Catherine M., Narod, Steven A., Lynch, Henry T., Eeles, Ros A., Meijers-Heijboer, Hanne, Stoppa-Lyonnet, Dominique, Couch, Fergus J., Eccles, Diana M., Evans, D. Gareth, Chang-Claude, Jenny, Lenoir, Gilbert, Weber, Barbara L., Devilee, Peter, Easton, Douglas F., Goldgar, David E., and Stratton, Michael R.
- Published
- 2002
32. Co-targeting EGFR and mTOR with gefitinib and everolimus in triple-negative breast cancer cells
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El Guerrab, Abderrahim, Bamdad, Mahchid, Bignon, Yves-Jean, Penault-Llorca, Frédérique, and Aubel, Corinne
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- 2020
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33. Breast Cancer and Lycopene
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Chalabi, Nasséra, primary, Bignon, Yves-Jean, additional, and Bernard-Gallon, Dominique J., additional
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- 2019
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34. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
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Noguès, Catherine, Laborde, Lilian, Pontois, Pauline, Breysse, Emanuelle, Berline, Margot, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Buecher, Bruno, Colas, Chrystelle, Caron, Olivier, Mouret-Fourme, Emmanuelle, Saule, Claire, Fricker, Jean-Pierre, Lasset, Christine, Bonadona, Valérie, Dussard, Sophie, Berthet, Pascaline, Faivre, Laurence, Luporsi, Elisabeth, Mari, Véronique, Gladieff, Laurence, Gesta, Paul, Chieze-Valéro, Stéphanie, Moretta, Jessica, Sobol, Hagay, Eisinger, François, Popovici, Cornel, Longy, Michel, Grivelli, Louise, Soubrier, Florent, Benusiglio, Patrick, Coupier, Isabelle, Pujol, Pascal, Corsini, Carole, Morin-Meschin, Marie-Emmanuelle, Lortholary, Alain, Adenis, Claude, Maillez, Audrey, Nguyen, Tan Dat, Delnatte, Capucine, Abadie, Caroline, Tinat, Julie, Tennevet, Isabelle, Maugard, Christine, Bignon, Yves-Jean, Gay Bellile, Mathilde, Penet, Clotilde, Dreyfus, Hélène, Cohen-Haguenauer, Odile, Gilbert, Brigitte, Venat-Bouvet, Laurence, Leroux, Dominique, Legrand, Clémentine, Zattara-Cannoni, Hélène, Layet, Valérie, Lacaze, Elodie, Fert-Ferrer, Sandra, Bera, Odile, Gilbert-Dussardier, Brigitte, Tougeron, David, Lallaoui, Hakima, Rookus, M.A., Hogervorst, F.B.L., van Leeuwen, F.E., Adank, M.A., Schmidt, M.K., Jenner, D.J., Collée, J.M., van den Ouweland, A.M.W., Hooning, M.J., Boere, I.A., van Asperen, C.J., Devilee, P., van der Luijt, R.B., van Cronenburg, T.C.T.E.F., Wevers, M.R., Mensenkamp, A.R., Ausems, M.G.E.M., Koudijs, M.J., van de Beek, I., van Engelen, K., Gille, J.J.P., Gómez García, E.B., Blok, M.J., de Boer, M., Berger, L.P.V., van der Hout, A.H., Mourits, M.J.E., de Bock, G.H., Siesling, S., Verloop, J., van den Broek, E.C., Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Håkan, Mooij, Thea M., Roos-Blom, Marie-José, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Henderson, Alex, Izatt, Louise, Ong, Kai-Ren, van Engelen, Klaartje, Jager, Agnes, Menko, Fred H., Mourits, Marian J.E., Singer, Christian F., Tan, Yen Y., Foretova, Lenka, Navratilova, Marie, Schmutzler, Rita K., Ellberg, Carolina, Gerdes, Anne-Marie, Caldes, Trinidad, Simard, Jacques, Olah, Edith, Jakubowska, Anna, Rantala, Johanna, Osorio, Ana, Hopper, John L., Phillips, Kelly-Anne, Milne, Roger L., Beth Terry, Mary, Engel, Christoph, Kast, Karin, Goldgar, David E., van Leeuwen, Flora E., Easton, Douglas F., Andrieu, Nadine, and Rookus, Matti A.
- Published
- 2021
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35. The Epigenetic Landscape of Promoter Genome-wide Analysis in Breast Cancer
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Seher Karsli-Ceppioglu, Aslihan Dagdemir, Gaëlle Judes, André Lebert, Frédérique Penault-Llorca, Yves-Jean Bignon, and Dominique Bernard-Gallon
- Subjects
Medicine ,Science - Abstract
Abstract Breast cancer is a heterogeneous disease due to its clinico-pathological features and response to therapy. The classification of breast tumors based on their hormone receptor status and pathologic features. Post-translational histone modifications come into prominence for regulation of gene expression in cancer pathogenesis. Here, we analyzed dysregulation of H3K9ac and H3K27me3-enriched subtype-specific genes using ChIP-on-chip assay in breast cancer tumors and matched normal tissue samples. Breast cancer tumors were classified according to St Gallen Consensus 2013. Our results indicated that the promoter regions of genes modified by H3K9ac epi-mark are commonly associated with tumors with HER2-positive and TNBC subtype. H3K27me3-enriched genes were comprised of Luminal A and B1 subtypes. We constructed a network structure to elicit epigenetically regulated genes related with breast cancer progression. The central genes of the network (RUNX1, PAX3, GATA4 and DLX5) were subjected for epigenetically dysregulation in association with different breast cancer subtypes. Our study submits epigenetic mechanisms are crucial to elicit subtype-specific regulation in breast cancer and ChIP-on-chip assay provides a better understanding for breast tumorigenesis and new approaches for prevention and treatment.
- Published
- 2017
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36. Abstract #1400120: A Case Report of Papillary Thyroid Carcinoma with Thymic Metastasis
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Liong, Yves Jean Y., primary and Lim-Alba, Rebecca, additional
- Published
- 2023
- Full Text
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37. High-throughput «Omics» technologies: New tools for the study of triple-negative breast cancer
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Judes, Gaëlle, Rifaï, Khaldoun, Daures, Marine, Dubois, Lucas, Bignon, Yves-Jean, Penault-Llorca, Frédérique, and Bernard-Gallon, Dominique
- Published
- 2016
- Full Text
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38. BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer
- Author
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Kwiatkowski, Fabrice, Gay-Bellile, Mathilde, Dessenne, Pascal, Laquet, Claire, Boussion, Véronique, Béguinot, Marie, Petit, Marie-Françoise, Grémeau, Anne-Sophie, Verlet, Céline, Chaptal, Charlotte, Broult, Marilyn, Jouvency, Sylvie, Duclos, Martine, and Bignon, Yves-Jean
- Published
- 2019
- Full Text
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39. Arrou-Vignod, Hugo Yves Jean-Louis
- Author
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Arrou-Vignod, Hugo Yves Jean-Louis and Arrou-Vignod, Hugo Yves Jean-Louis
- Published
- 2023
40. CRI-SPA mediated screening for metabolic engineering targets to improve small molecule production in Saccharomyces cerevisiae
- Author
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Vestergaard, Andreas M., Cachera, Paul Pierre-Yves Jean, Mortensen, Uffe Hasbro, Vestergaard, Andreas M., Cachera, Paul Pierre-Yves Jean, and Mortensen, Uffe Hasbro
- Abstract
Saccharomyces cerevisiae is a eukaryotic model organism and represents a commonly used cell factory chassis for the production of a wide range of small molecules, such as terpenes, non-ribosomal peptides, and polyketides. The expansive knowledge of S. cerevisiae genetics and metabolism has allowed for the development and use of genome-scale models and flux balance analysis to guide metabolic engineering efforts. However, even in a model organism such as S. cerevisiae, our understanding of gene regulation and cell metabolism remains incomplete, making it likely that potential targets for cell factory improvement are missed in such approaches. We have recently developed a mating-based method, CRI-SPA [1], which combines CRISPR-Cas9 induced gene editing with Selective Ploidy Ablation (SPA). This allows for high throughput transfer of a genetic feature of interest from a donor strain to a library of recipient strains. We have applied CRI-SPA to transfer several different biosynthetic pathways—betaxanthin (shikimate pathway-derived), bikaverin (polyketide), and aspulvinone E (non-ribosomal peptide-like)—to the genome-wide gene deletion library. All three biosynthetic pathways result in visible colour production when expressed in S. cerevisiae, allowing for visual-based screening for high and low producers. The approach generates a comprehensive dataset of the effect of each gene deletion on product formation and host fitness, which in turn can be used to devise superior metabolic engineering strategies for the production of these valuable small molecules in S. cerevisiae.
- Published
- 2023
41. Supplementary Figures 1 - 3 from MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
- Author
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Burnichon, Nelly, primary, Cascón, Alberto, primary, Schiavi, Francesca, primary, Morales, Nicole Paes, primary, Comino-Méndez, Iñaki, primary, Abermil, Nasséra, primary, Inglada-Pérez, Lucía, primary, de Cubas, Aguirre A., primary, Amar, Laurence, primary, Barontini, Marta, primary, de Quirós, Sandra Bernaldo, primary, Bertherat, Jérôme, primary, Bignon, Yves-Jean, primary, Blok, Marinus J., primary, Bobisse, Sara, primary, Borrego, Salud, primary, Castellano, Maurizio, primary, Chanson, Philippe, primary, Chiara, María-Dolores, primary, Corssmit, Eleonora P.M., primary, Giacchè, Mara, primary, de Krijger, Ronald R., primary, Ercolino, Tonino, primary, Girerd, Xavier, primary, Gómez-García, Encarna B., primary, Gómez-Graña, Álvaro, primary, Guilhem, Isabelle, primary, Hes, Frederik J., primary, Honrado, Emiliano, primary, Korpershoek, Esther, primary, Lenders, Jacques W.M., primary, Letón, Rocío, primary, Mensenkamp, Arjen R., primary, Merlo, Anna, primary, Mori, Luigi, primary, Murat, Arnaud, primary, Pierre, Peggy, primary, Plouin, Pierre-François, primary, Prodanov, Tamara, primary, Quesada-Charneco, Miguel, primary, Qin, Nan, primary, Rapizzi, Elena, primary, Raymond, Victoria, primary, Reisch, Nicole, primary, Roncador, Giovanna, primary, Ruiz-Ferrer, Macarena, primary, Schillo, Frank, primary, Stegmann, Alexander P.A., primary, Suarez, Carlos, primary, Taschin, Elisa, primary, Timmers, Henri J.L.M., primary, Tops, Carli M.J., primary, Urioste, Miguel, primary, Beuschlein, Felix, primary, Pacak, Karel, primary, Mannelli, Massimo, primary, Dahia, Patricia L. M., primary, Opocher, Giuseppe, primary, Eisenhofer, Graeme, primary, Gimenez-Roqueplo, Anne-Paule, primary, and Robledo, Mercedes, primary
- Published
- 2023
- Full Text
- View/download PDF
42. The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles
- Author
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Chevarin, Martin, primary, Alcantara, Diana, additional, Albuisson, Juliette, additional, Collonge-Rame, Marie-Agnès, additional, Populaire, Céline, additional, Selmani, Zohair, additional, Baurand, Amandine, additional, Sawka, Caroline, additional, Bertolone, Geoffrey, additional, Callier, Patrick, additional, Duffourd, Yannis, additional, Jonveaux, Philippe, additional, Bignon, Yves-Jean, additional, Coupier, Isabelle, additional, Cornelis, François, additional, Cordier, Christophe, additional, Mozelle-Nivoix, Monique, additional, Rivière, Jean-Baptiste, additional, Kuentz, Paul, additional, Thauvin, Christel, additional, Boidot, Romain, additional, Ghiringhelli, François, additional, O'Driscoll, Marc, additional, Faivre, Laurence, additional, and Nambot, Sophie, additional
- Published
- 2023
- Full Text
- View/download PDF
43. Informer la famille : émotions et attitudes du consultant en oncogénétique pour risque familial de cancer sein/ovaire ou côlon
- Author
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Kwiatkowski, Fabrice, Laquet, Claire, Dessenne, Pascal, and Bignon, Yves-Jean
- Published
- 2015
- Full Text
- View/download PDF
44. Prostate cancer: The main risk and protective factors – Epigenetic modifications
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Adjakly, Mawussi, Ngollo, Marjolaine, Dagdemir, Aslihan, Judes, Gaëlle, Pajon, Amaury, Karsli-Ceppioglu, Seher, Penault-Llorca, Frédérique, Boiteux, Jean-Paul, Bignon, Yves-Jean, Guy, Laurent, and Bernard-Gallon, Dominique
- Published
- 2015
- Full Text
- View/download PDF
45. Data from MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
- Author
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Mercedes Robledo, Anne-Paule Gimenez-Roqueplo, Graeme Eisenhofer, Giuseppe Opocher, Patricia L. M. Dahia, Massimo Mannelli, Karel Pacak, Felix Beuschlein, Miguel Urioste, Carli M.J. Tops, Henri J.L.M. Timmers, Elisa Taschin, Carlos Suarez, Alexander P.A. Stegmann, Frank Schillo, Macarena Ruiz-Ferrer, Giovanna Roncador, Nicole Reisch, Victoria Raymond, Elena Rapizzi, Nan Qin, Miguel Quesada-Charneco, Tamara Prodanov, Pierre-François Plouin, Peggy Pierre, Arnaud Murat, Luigi Mori, Anna Merlo, Arjen R. Mensenkamp, Rocío Letón, Jacques W.M. Lenders, Esther Korpershoek, Emiliano Honrado, Frederik J. Hes, Isabelle Guilhem, Álvaro Gómez-Graña, Encarna B. Gómez-García, Xavier Girerd, Tonino Ercolino, Ronald R. de Krijger, Mara Giacchè, Eleonora P.M. Corssmit, María-Dolores Chiara, Philippe Chanson, Maurizio Castellano, Salud Borrego, Sara Bobisse, Marinus J. Blok, Yves-Jean Bignon, Jérôme Bertherat, Sandra Bernaldo de Quirós, Marta Barontini, Laurence Amar, Aguirre A. de Cubas, Lucía Inglada-Pérez, Nasséra Abermil, Iñaki Comino-Méndez, Nicole Paes Morales, Francesca Schiavi, Alberto Cascón, and Nelly Burnichon
- Abstract
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline and somatic MAX mutations in PCC/PGL.Design: We sequenced MAX in 1,694 patients with PCC or PGL (without mutations in other major susceptibility genes) from 17 independent referral centers. We screened for large deletions/duplications in 1,535 patients using a multiplex PCR-based method. Somatic mutations were searched for in tumors from an additional 245 patients. The frequency and type of MAX mutation was assessed overall and by clinical characteristics.Results: Sixteen MAX pathogenic mutations were identified in 23 index patients. All had adrenal tumors, including 13 bilateral or multiple PCCs within the same gland (P < 0.001), 15.8% developed additional tumors at thoracoabdominal sites, and 37% had familial antecedents. Age at diagnosis was lower (P = 0.001) in MAX mutation carriers compared with nonmutated cases. Two patients (10.5%) developed metastatic disease. A mutation affecting MAX was found in five tumors, four of them confirmed as somatic (1.65%). MAX tumors were characterized by substantial increases in normetanephrine, associated with normal or minor increases in metanephrine.Conclusions: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients. Clin Cancer Res; 18(10); 2828–37. ©2012 AACR.
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- 2023
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46. miR-10b, miR-26a, miR-146a And miR-153 Expression in Triple Negative Vs Non Triple Negative Breast Cancer: Potential Biomarkers
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Fkih M’hamed, Insaf, Privat, Maud, Trimeche, Mounir, Penault-Llorca, Frédérique, Bignon, Yves-Jean, and Kenani, Abderraouf
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- 2017
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47. Margin Status is Still an Important Prognostic Factor in Hepatectomies for Colorectal Liver Metastases: A Propensity Score Matching Analysis
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Memeo, Riccardo, de Blasi, Vito, Adam, Rene, Goéré, Diane, Piardi, Tullio, Lermite, Emilie, Turrini, Olivier, Navarro, Francis, de’Angelis, Nicola, Cunha, Antonio Sa, Pessaux, Patrick, Cosse, Cyril, Lignier, Delphine, Regimbeau, Jean Marc, Barbieux, Julien, Lermite, Emilie, Hamy, Antoine, Mauvais, François, Laurent, Christophe, Naasan, Irchid Al, Laurent, Alexis, Azoulay, Daniel, Compagnon, Philippe, de’Angelis, Nicola, Idrissi, Mohammed Sbai, Martin, Fréderic, Atger, Jerôme, Baulieux, Jacques, Darnis, Benjamin, Yves, Jean, Mabrut, Kepenekian, Vahan, Perinel, Julie, Adham, Mustapha, Glehen, Olivier, Rivoire, Michel, Hardwigsen, Jean, Palen, Anais, Grégoire, Emilie, LeTreut, Yves Patrice, Delpero, Jean Robert, Turrini, Olivier, Herrero, Astrid, Navarro, Francis, Panaro, Fabrizio, Ayav, Ahmet, Bresler, Laurent, Rauch, Philippe, Guillemin, François, Marchal, Fréderic, Gugenheim, Jean, Iannelli, Antonio, Benoist, Stephane, Brouquet, Antoine, Pocard, Marc, Dico, Réa Lo, Gayet, Brice, Fuks, David, Scatton, Olivier., Soubrane, Olivier, Vaillant, Jean-Christophe, Piardi, Tullio, Sommacale, Daniel, Kianmanesh, Reza, Comy, Michel, Bachellier, Philippe, Oussoultzoglou, Elie, Addeo, Pietro, Ntourakis, Dimitrios, Pessaux, Patrick, Mutter, Didier, Marescaux, Jacques, Raoux, Loïc, Suc, Bertrand, Muscari, Fabrice, ELHOMSY, Georges, Gelli, Maximiliano, Cunha, Antonio Sa, Adam, René, Castaing, Denis, Cherqui, Daniel, Pittau, Gabriella, Ciacio, Oriana, Vibert, Eric, Elias, Dominique, Goére, Diane, Vittadello, Fabrizio, and French Colorectal Liver Metastases Working Group, Association Française de Chirurgie (AFC)
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- 2017
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48. Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I
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Molka Sebai, David Tulasne, Sandrine M. Caputo, Virginie Verkarre, Marie Fernandes, Célia Guérin, Fanny Reinhart, Séverine Adams, Christine Maugard, Olivier Caron, Marine Guillaud‐Bataille, Pascaline Berthet, Yves‐Jean Bignon, Brigitte Bressac‐de Paillerets, Nelly Burnichon, Jean Chiesa, Sophie Giraud, Sophie Lejeune, Jean‐Marc Limacher, Antoine Pauw, Dominique Stoppa‐Lyonnet, Hélène Zattara‐Cannoni, Sophie Deveaux, Rosette Lidereau, Stéphane Richard, and Etienne Rouleau
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Male ,Germ Cells ,Phenotype ,Neoplastic Syndromes, Hereditary ,Genetics ,Humans ,Female ,Proto-Oncogene Proteins c-met ,Carcinoma, Renal Cell ,Kidney Neoplasms ,Genetics (clinical) - Abstract
Hereditary papillary renal cell carcinoma (HPRC) is a rare inherited renal cancer syndrome characterized by bilateral and multifocal papillary type 1 renal tumors (PRCC1). Activating germline pathogenic variants of the MET gene were identified in HPRC families. We reviewed the medical and molecular records of a large French series of 158 patients screened for MET oncogenic variants. MET pathogenic and likely pathogenic variants rate was 12.4% with 40.6% among patients with familial PRCC1 and 5% among patients with sporadic PRCC1. The phenotype in cases with MET pathogenic and likely pathogenic variants was characteristic: PRCC1 tumors were mainly bilateral (84.3%) and multifocal (87.5%). Histologically, six out of seven patients with MET pathogenic variant harbored biphasic squamoid alveolar PRCC. Genetic screening identified one novel pathogenic variant MET c.3389TC, p.(Leu1130Ser) and three novel likely pathogenic variants: MET c.3257AT, p.(His1086Leu); MET c.3305TC, p.(Ile1102Thr) and MET c.3373TG, p.(Cys1125Gly). Functional assay confirmed their oncogenic effect as they induced an abnormal focus formation. The genotype-phenotype correlation between MET pathogenic variants and PRCC1 presentation should encourage to widen the screening, especially toward nonfamilial PRCC1. This precise phenotype also constitutes a strong argument for the classification of novel missense variants within the tyrosine kinase domain when functional assays are not accessible.
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- 2022
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49. Fungal Infections Caused by Kazachstania spp., Strasbourg, France, 2007–2020
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Charlotte Kaeuffer, Mathieu Baldacini, Tiffany Ruge, Yvon Ruch, Yves-Jean Zhu, Manon De Cian, Guillaume Philouze, Philippe Bachellier, Julie Denis, Nicolas Lefebvre, Francis Schneider, Yves Hansmann, Valérie Letscher-Bru, Raoul Herbrecht, Marcela Sabou, François Danion, Biomatériaux et Bioingénierie (BB), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Virulence bactérienne précoce : fonctions cellulaires et contrôle de l'infection aiguë et subaiguë, and Université de Strasbourg (UNISTRA)
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Microbiology (medical) ,Antifungal Agents ,Epidemiology ,Microbial Sensitivity Tests ,Infectious and parasitic diseases ,RC109-216 ,yeast ,Fungal Infections Caused by Kazachstania spp., Strasbourg, France, 2007–2020 ,03 medical and health sciences ,Humans ,emerging infection ,Fluconazole ,030304 developmental biology ,Candida ,0303 health sciences ,030306 microbiology ,Kazachstania ,3. Good health ,invasive fungal disease ,Infectious Diseases ,Mycoses ,Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ,Saccharomycetales ,Synopsis ,Medicine ,France ,fungi ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
Emergence might be associated with increasing immunocompromised conditions and gastroesophageal diseases., Rare fungal pathogens are emerging as agents of invasive fungal infections. We analyzed 13 cases of fungal infections caused by Kazachstania (Arxiozyma) spp. in Strasbourg University Hospital, Strasbourg, France. Among the cases, 4 patients had proven fungal disease (3 cases of invasive fungal disease and 1 mucocutaneous infection) and 9 were colonized by Kazachstania (Arxiozyma) spp. Candida albicans was also isolated from 11 of the 13 patients. None of the patients with proven invasive fungal disease met host criteria, but most had underlying diseases. All strains were identified as K. telluris by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, and 3 were confirmed as K. bovina by internal transcribed spacer sequencing. For all tested strains, the MICs for fluconazole were >2 μg/mL. Emergence of this rare fungal infection might be explained by the increasing number of patients with immunocompromised conditions and gastroesophageal diseases.
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- 2022
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50. Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature
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Guilhaume Garrigues, Marie Batisse‐Lignier, Nancy Uhrhammer, Maud Privat, Flora Ponelle‐Chachuat, Antony Kelly, Mathilde Gay‐Bellile, Sandrine Viala, Yannick Bidet, Yves‐Jean Bignon, Mathias Cavaillé, Centre Jean Perrin, Département d'oncogénétique, Département de Médecine nucléaire, Centre Jean PERRIN, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA)
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rare duplication ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,adenomyosis ,Genetics ,HPT-JT syndrome ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,CDC73 ,Molecular Biology ,Genetics (clinical) - Abstract
International audience; BackgroundHyperparathyroidism jaw-tumor syndrome (HPT-JT) is the rarest familial cause of primary hyperparathyroidism, with an incidence
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- 2023
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