Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Fabienne Charbit‐Henrion"'
Autor:
Celine Banal, Eddy Quelennec, Cécile Talbotec, Anis Khiat, Fabienne Charbit-Henrion, Nadine Cerf-Bensussan, Nathalie Lefort, Corinne Lebreton
Publikováno v:
Stem Cell Research, Vol 68, Iss , Pp 103057- (2023)
Mutations in UNC45A, a co-chaperone for myosins, were recently found causative of a syndrome combining cholestasis, diarrhea, loss of hearing and bone fragility. We generated induced pluripotent stem cells (iPSCs) from a patient with a homozygous mis
Externí odkaz:
https://doaj.org/article/c7f7b94f9a194085851c1162f5a0b0e6
Autor:
Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Céline Revenu de Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Júlia Baptista, Maxime M. Mahe, Michael W. Hess, Béatrice Durel, Nathalie Lefort, Céline Banal, Mélanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Grégoire Michaux, Nadine Cerf-Bensussan, Marianna Parlato
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 10 (2022)
Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear. Here, biallelic vari
Externí odkaz:
https://doaj.org/article/6503ecabc11443e384dfca9f5f76d443
Autor:
Laura Fertitta, Fabienne Charbit-Henrion, Stéphanie Leclerc-Mercier, Thao Nguyen-Khoa, Robert Baran, Caroline Alby, Julie Steffann, Isabelle Sermet-Gaudelus, Smail Hadj-Rabia
Publikováno v:
Genes, Vol 13, Iss 12, p 2360 (2022)
Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. It is due to AQP5 heterozyg
Externí odkaz:
https://doaj.org/article/fff894065e924c8d969a77f50865723b
Autor:
Maleha S. Alsafri, Fabienne Charbit-Henrion, Florence Lacaille, Emmanuelle Bourrat, Julie Steffann, Smail Hadj-Rabia
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 13, p adv00173 (2020)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/b7731243497c44a5b0079af2b122c067
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:
Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0205826 (2018)
Mutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by hematopoietic stem cell transplantation. Using a functional test, which assesses responsiven
Externí odkaz:
https://doaj.org/article/dac08ec7432e47e19ea3c9c69f79f0e3
Autor:
Alizée Bozonnat, Laura Polivka, Stéphanie Leclerc-Mercier, Romain Luscan, Fabienne Charbit-Henrion, Christine Bodemer, Alexandre Lapillonne, Smail Hadj-Rabia
Publikováno v:
British Journal of Dermatology. 188:564-566
In COLXVII-junctional epidermolysis bullosa, mucosal involvement remains inconsistent and is limited to the oral cavity and the oesophagus. We documented the observation of a patient presenting with tracheal damage.
Autor:
Marco M. Rodari, Dominique Cazals-Hatem, Mathieu Uzzan, Nicolas Martin Silva, Anis Khiat, Minh Chau Ta, Ludovic Lhermitte, Aurore Touzart, Sylvain Hanein, Cléa Rouillon, Francisca Joly, Adrienne Elmorjani, Julie Steffann, Nadine Cerf-Bensussan, Marianna Parlato, Fabienne Charbit-Henrion
Publikováno v:
Journal of Clinical Immunology.
Purpose Hyper activation of the JAK-STAT signaling underlies the pathophysiology of many human immune–mediated diseases. Herein, the study of 2 adult patients with SOCS1 haploinsufficiency illustrates the severe and pleomorphic consequences of its
Autor:
Charlotte Boussard, Laure Delage, Tania Gajardo, Alexandre Kauskot, Maxime Batignes, Nicolas Goudin, Marie-Claude Stolzenberg, Camille Brunaud, Patricia Panikulam, Quentin Riller, Maryse Moya-Nilges, Jean Solarz, Christelle Reperant, Béatrice Durel, Jean-Claude Bordet, Olivier Pellé, Corinne Lebreton, Aude Magerus-Chatinet, Vithura Pirabakaran, Pablo Vargas, Sébastien Dupichaud, Marie Jeanpierre, Angélique Vinit, Mohammed Zarhrate, Cécile Masson, Nathalie Aladjidi, Peter D Arkwright, Brigitte Bader-Meunier, Sandrine Baron Joly, Joy Benadiba, Elise Bernard, Dominique Berrebi, Christine Bodemer, Martin Castelle, Fabienne Charbit-Henrion, Marwa Chbihi, Agathe Debray, Philippe Drabent, Sylvie Fraitag, Miguel Hié, Judith Landman-Parker, Ludovic Lhermitte, Despina Moshous, Pierre Rohrlich, Frank M Ruemmele, Anne Welfringer-Morin, Maud Tusseau, Alexandre Belot, Nadine Cerf-Bensussan, Marie Roelens, Capucine Picard, Bénédicte Neven, Alain Fischer, Isabelle Callebaut, Mickaël Mathieu Ménager, Fernando E Sepulveda, Frédéric Adam, Frédéric Rieux-Laucat
Publikováno v:
Blood.
Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. This is highlighted by the DOCK2 and DOCK8 deficiencies leading to actinopathies and immune deficiencies. DOCK8 and DOCK11 activate CDC42, a RHO-GTPase inv
Autor:
Fabienne Charbit‐Henrion, Roman Goguyer‐Deschaumes, Keren Borensztajn, Marc Mirande, Jérémy Berthelet, Fernando Rodrigues‐Lima, Anis Khiat, Marie‐Louise Frémond, Brigitte Bader‐Meunier, Marco M. Rodari, Luis Seabra, Gillian I. Rice, Marie Legendre, David Drummond, Laureline Berteloot, Charles‐Joris Roux, Nathalie Boddaert, Philippe Drabent, Thierry Jo Molina, Florence Lacaille, Manoelle Kossorotoff, Nadine Cerf‐Bensussan, Marianna Parlato, Alice Hadchouel
Publikováno v:
Charbit-Henrion, F, Goguyer-Deschaumes, R, Borensztajn, K, Mirande, M, Berthelet, J, Rodrigues-Lima, F, Khiat, A, Frémond, M-L, Bader-Meunier, B, Rodari, M M, Seabra, L, Rice, G I, Legendre, M, Drummond, D, Berteloot, L, Roux, C-J, Boddaert, N, Drabent, P, Molina, T J, Lacaille, F, Kossorotoff, M, Cerf-Bensussan, N, Parlato, M & Hadchouel, A 2022, ' Systemic inflammatory syndrome in children with FARSA deficiency ', Clinical Genetics, vol. 101, no. 5-6, pp. 552-558 . https://doi.org/10.1111/cge.14120
Clinical Genetics
Clinical Genetics, 2022, 101 (5-6), pp.552-558. ⟨10.1111/cge.14120⟩
Clinical Genetics
Clinical Genetics, 2022, 101 (5-6), pp.552-558. ⟨10.1111/cge.14120⟩
International audience; Variants in aminoacyl-tRNA synthetases (ARSs) genes are associated to a broad spectrum of human inherited diseases. Patients with defective PheRS, encoded by FARSA and FARSB, display brain abnormalities, interstitial lung dise