Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Marc Bras"'
Autor:
Laure Delage, Francesco Carbone, Quentin Riller, Jean-Luc Zachayus, Erwan Kerbellec, Armelle Buzy, Marie-Claude Stolzenberg, Marine Luka, Camille de Cevins, Georges Kalouche, Rémi Favier, Alizée Michel, Sonia Meynier, Aurélien Corneau, Caroline Evrard, Nathalie Neveux, Sébastien Roudières, Brieuc P. Pérot, Mathieu Fusaro, Christelle Lenoir, Olivier Pellé, Mélanie Parisot, Marc Bras, Sébastien Héritier, Guy Leverger, Anne-Sophie Korganow, Capucine Picard, Sylvain Latour, Bénédicte Collet, Alain Fischer, Bénédicte Neven, Aude Magérus, Mickaël Ménager, Benoit Pasquier, Frédéric Rieux-Laucat
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of patients with GPS develop autoimmunity through an unknown mechanis
Externí odkaz:
https://doaj.org/article/250dd0cc900246fba884548604a03ce9
Autor:
Hassan Saei, Marie Boisson, Christelle Arrondel, Bruno Estebe, Nicolas Cagnard, Marc Bras, Vincent Morinière, Zaïna Aït Arkoub, Laurence Heidet, Olivier Gribouval, Patrick Nitschké, Corinne Antignac, Géraldine Mollet, Guillaume Dorval
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101032- (2024)
Externí odkaz:
https://doaj.org/article/26b8868ae89d4c9ba46156b379f69499
Autor:
Jérôme Hadjadj, Carla Noemi Castro, Maud Tusseau, Marie-Claude Stolzenberg, Fabienne Mazerolles, Nathalie Aladjidi, Martin Armstrong, Houman Ashrafian, Ioana Cutcutache, Georg Ebetsberger-Dachs, Katherine S. Elliott, Isabelle Durieu, Nicole Fabien, Mathieu Fusaro, Maximilian Heeg, Yohan Schmitt, Marc Bras, Julian C. Knight, Jean-Christophe Lega, Gaetan Lesca, Anne-Laure Mathieu, Marion Moreews, Baptiste Moreira, Audrey Nosbaum, Matthew Page, Cécile Picard, T. Ronan Leahy, Isabelle Rouvet, Ethel Ryan, Damien Sanlaville, Klaus Schwarz, Andrew Skelton, Jean-Francois Viallard, Sebastien Viel, Marine Villard, Isabelle Callebaut, Capucine Picard, Thierry Walzer, Stephan Ehl, Alain Fischer, Bénédicte Neven, Alexandre Belot, Frédéric Rieux-Laucat
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoi
Externí odkaz:
https://doaj.org/article/e099b2415a024179917630ee4d4f2ec2
Autor:
Sandrine Luce, Sophie Guinoiseau, Alexis Gadault, Franck Letourneur, Patrick Nitschke, Marc Bras, Michel Vidaud, Pierre Charneau, Etienne Larger, Maikel L. Colli, Decio L. Eizirik, François Lemonnier, Christian Boitard
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
To circumvent the limitations of available preclinical models for the study of type 1 diabetes (T1D), we developed a new humanized model, the YES-RIP-hB7.1 mouse. This mouse is deficient of murine major histocompatibility complex class I and class II
Externí odkaz:
https://doaj.org/article/6206b24d7ab14e419c5c8a08cad4d3d1
Autor:
Marianna Parlato, Fabienne Charbit‐Henrion, Jie Pan, Claudio Romano, Rémi Duclaux‐Loras, Marie‐Helene Le Du, Neil Warner, Paola Francalanci, Julie Bruneau, Marc Bras, Mohammed Zarhrate, Bernadette Bègue, Nicolas Guegan, Sabine Rakotobe, Nathalie Kapel, Paola De Angelis, Anne M Griffiths, Karoline Fiedler, Eileen Crowley, Frank Ruemmele, Aleixo M Muise, Nadine Cerf‐Bensussan
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 4, Pp n/a-n/a (2018)
Abstract Herein, we report the first identification of biallelic‐inherited mutations in ALPI as a Mendelian cause of inflammatory bowel disease in two unrelated patients. ALPI encodes for intestinal phosphatase alkaline, a brush border metalloenzym
Externí odkaz:
https://doaj.org/article/9e8cd61beb77431d8b75bee63fbb72fe
Autor:
Marion, Aubert-Mucca, Céline, Huber, Genevieve, Baujat, Caroline, Michot, Mohammed, Zarhrate, Marc, Bras, Lucile, Boutaud, Valérie, Malan, Tania, Attie-Bitach, Khaloua, Zaafrane
Publikováno v:
Journal of Medical Genetics. 60:337-345
BackgroundEllis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib–polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high deg
Autor:
Marie-Claude Stolzenberg, Christine Bodemer, Sven Kracker, Marion Rabant, Olivier Pellé, Vincent Bondet, Brigitte Bader-Meunier, Sidonie Jacques, Rémi Salomon, Miguel Hie, Mathieu Castela, Matthieu Moncan, Frédéric Rieux-Laucat, Loic Chentout, Marina Cavazzana, Sajedeh Mirshavalad, Capucine Picard, Marc Bras, Mélanie Parisot, Jonathan J. Miner, Amine Bouafia, Alexandre Belot, Carolina Uggenti, Darragh Duffy, Nadia Jeremiah, Aude Magérus, Laura Barnabei, Hicham Lamrini
Systemic Lupus Erythematosus (SLE) is an autoimmune and inflammatory disease characterized by uncontrolled production of autoantibodies and inflammatory cytokines such as the type-I interferons. Due to the lack of precise pathophysiological mechanism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0857ce8c7d9f86798f1ed9d629b73d92
https://hal.science/hal-03001914
https://hal.science/hal-03001914
Autor:
Thierry Jo Molina, Ludovic Lhermitte, Christine Bole-Feysot, Georgia Malamut, Elizabeth Macintyre, Morgane Cheminant, Amélie Trinquand, Sophie Kaltenbach, Bruno Tesson, Olivier Hermine, David Sibon, Sofia Berrabah, Patrick Villarese, Christophe Cellier, Sherine Khater, Nicolas Guegan, Sascha Cording, Julie Bruneau, Marc Bras, Bertrand Meresse, Nadine Cerf-Bensussan, Vahid Asnafi, Michael Dussiot
ObjectiveEnteropathy-associated T-cell lymphoma (EATL) is a rare but severe complication of celiac disease (CeD), often preceded by low-grade clonal intraepithelial lymphoproliferation, referred to as type II refractory CeD (RCDII). Knowledge on unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c331760793fdda3576de53d5c950fa5a
https://doi.org/10.1101/2020.09.07.275032
https://doi.org/10.1101/2020.09.07.275032
Autor:
Olivier Alibeu, Cécile Jeanpierre, Marc Jeanpierre, Cécile Fourrage, Valérie Malan, Charline Henry, Robert Novo, Frédéric Tores, Vincent Morinière, Madeline Louise Reilly, Marc Bras, Sophie Saunier, Rémi Salomon, Corinne Antignac, Camille Humbert, Lara De Tomasi, Patrick Nitschke, Dominique Gaillard, Laurence Heidet, Marie Gonzales, Christine Pietrement, Jelena Martinovic, Joelle Roume, Christine Bole-Feysot, Elise Schaefer
Publikováno v:
Journal of the American Society of Nephrology. 28:2901-2914
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, represent about 20% of the prenatally detected anomalies, and constitute the main cause of CKD in children. These disorders are phenotypically and
Autor:
Anne Durandy, Sébastien Lofek, Hicham Lamrini, Eric Oksenhendler, Loic Chentout, Isabelle André-Schmutz, Elizabeth Macintyre, Sven Kracker, Marie-Céline Deau, Marc Bras, Lucie Heurtier, Amélie Trinquand, Marina Cavazzana, Amine Bouafia, Véronique Meignin, Olivier Alibeu, Alain Fischer, Julie Bruneau, Thierry Jo Molina, Capucine Picard
Publikováno v:
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2019, 129 (3), pp.1047-1060. ⟨10.1172/jci120572⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2019, 129 (3), pp.1047-1060. ⟨10.1172/jci120572⟩
ARHGEF1 is a RhoA-specific guanine nucleotide exchange factor expressed in hematopoietic cells. We used whole-exome sequencing to identify compound heterozygous mutations in ARHGEF1, resulting in the loss of ARHGEF1 protein expression in 2 primary an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78c605f59403518da995ceb2250c379c
https://hal.archives-ouvertes.fr/hal-02323397
https://hal.archives-ouvertes.fr/hal-02323397