Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Cécile Ged"'
Autor:
Claire Goudet, Cécile Ged, Audrey Petit, Chloe Desage, Perrine Mahe, Aicha Salhi, Ines Harzallah, Jean-Marc Blouin, Patrick Mercie, Caroline Schmitt, Antoine Poli, Laurent Gouya, Vincent Barlogis, Emmanuel Richard
Publikováno v:
Life, Vol 14, Iss 1, p 130 (2024)
(1) Background: Congenital erythropoietic porphyria (CEP), named Günther’s disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges
Externí odkaz:
https://doaj.org/article/4c90326ad20846f182b5990fcbec2016
Autor:
Jean-Marc Blouin, Cécile Ged, Ganeko Bernardo-Seisdedos, Txomin Cabantous, Benoît Pinson, Antoine Poli, Hervé Puy, Oscar Millet, Laurent Gouya, Fanny Morice-Picard, Emmanuel Richard
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100722- (2021)
Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological isomer I porphyrins. Thes
Externí odkaz:
https://doaj.org/article/d94966ec4ecb4b5b89626f93d399b2b2
Autor:
Grégoire Cullot, Julian Boutin, Jérôme Toutain, Florence Prat, Perrine Pennamen, Caroline Rooryck, Martin Teichmann, Emilie Rousseau, Isabelle Lamrissi-Garcia, Véronique Guyonnet-Duperat, Alice Bibeyran, Magalie Lalanne, Valérie Prouzet-Mauléon, Béatrice Turcq, Cécile Ged, Jean-Marc Blouin, Emmanuel Richard, Sandrine Dabernat, François Moreau-Gaudry, Aurélie Bedel
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
CRISPR-Cas9 has been rapidly adopted to generate cell line models of disease. Here the authors show, while attempting to establish a congenital erythropoietic porphyria model, unexpected chromosome truncations generated by a p53-dependent mechanism.
Externí odkaz:
https://doaj.org/article/3a225f969b444010a97c3369c573fb50
Autor:
Nour Fayyad, Farah Kobaisi, David Beal, Walid Mahfouf, Cécile Ged, Fanny Morice-Picard, Mohammad Fayyad-Kazan, Hussein Fayyad-Kazan, Bassam Badran, Hamid R. Rezvani, Walid Rachidi
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Xeroderma Pigmentosum C (XPC) is a multi-functional protein that is involved not only in the repair of bulky lesions, post-irradiation, via nucleotide excision repair (NER) per se but also in oxidative DNA damage mending. Since base excision repair (
Externí odkaz:
https://doaj.org/article/d511215b8e8e44f4a2848d5e79b0c78d
Autor:
Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac
Publikováno v:
Haematologica, Vol 103, Iss 11 (2018)
Hemochromatosis type 4 is one of the most common causes of primary iron overload, after HFE-related hemochromatosis. It is an autosomal dominant disorder, primarily due to missense mutations in SLC40A1. This gene encodes ferroportin 1 (FPN1), which i
Externí odkaz:
https://doaj.org/article/1f0d0cbc356347acb8324b9633747899
Autor:
Sarah Millot, Constance Delaby, Boualem Moulouel, Thibaud Lefebvre, Nathalie Pilard, Nicolas Ducrot, Cécile Ged, Philippe Lettéron, Lucia de Franceschi, Jean Charles Deybach, Carole Beaumont, Laurent Gouya, Hubert De Verneuil, Saïd Lyoumi, Hervé Puy, Zoubida Karim
Publikováno v:
Haematologica, Vol 102, Iss 2 (2017)
Hemolysis occurring in hematologic diseases is often associated with an iron loading anemia. This iron overload is the result of a massive outflow of hemoglobin into the bloodstream, but the mechanism of hemoglobin handling has not been fully elucida
Externí odkaz:
https://doaj.org/article/aac1a1886b7c4ca28849a86641e56d33
Autor:
Hamid Reza Rezvani, Frédéric Mazurier, Fanny Morice-Picard, Thomas Jouary, Muriel Cario-André, Cécile Ged, Hubert de Verneuil, Alain Taïeb
Publikováno v:
Dermatologica Sinica, Vol 28, Iss 3, Pp 93-101 (2010)
Xeroderma pigmentosum (XP) type C is a rare autosomal recessive disorder that occurs because of inactivation of the xeroderma pigmentosum group C (XPC) protein, which is an important DNA damage recognition protein involved in DNA nucleotide excision
Externí odkaz:
https://doaj.org/article/eeadbef10f9046348190b25cc0ff6250
Autor:
Mélanie Fourgeaud, Louis Lebreton, Khaldia Belabbas, Mathilde Di Filippo, Vincent Rigalleau, Thierry Couffinhal, Yann Pucheu, Pascal Barat, Cécile Ged, Annie M. Bérard
Publikováno v:
Journal of clinical lipidology
Journal of clinical lipidology, 2022, 16 (3), pp.298-305. ⟨10.1016/j.jacl.2022.03.002⟩
Journal of clinical lipidology, 2022, 16 (3), pp.298-305. ⟨10.1016/j.jacl.2022.03.002⟩
International audience; Contexte : L' hypercholestérolémie familiale (HF) est la maladie génétique la plus courante associée à un risque élevé de maladie cardiovasculaire athéroscléreuse prématurée attribuable à l'augmentation des taux d
Autor:
Sarah Szepetowski, Claire Berger, Philippe Joly, Sandrine Baron‐Joly, Yoann Huguenin, Aurélie Cantais, Sophie Brun, Cécile Ged, Catherine Badens, Isabelle Thuret, Muriel Giansily‐Blaizot, Serge Pissard, Patricia Aguilar‐Martinez
Publikováno v:
American Journal of Hematology
American Journal of Hematology, 2022, 97 (11), ⟨10.1002/ajh.26687⟩
American Journal of Hematology, 2022, 97 (11), ⟨10.1002/ajh.26687⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5caf3f4603559664b93bf9f57fb88bdc
https://hal-amu.archives-ouvertes.fr/hal-04039751
https://hal-amu.archives-ouvertes.fr/hal-04039751
Autor:
Jean-Marc Blouin, F. Prat, J. Rosier, Jean-Philippe Merlio, J. Bouron, Emmanuel Richard, Cécile Ged, Julian Boutin, Isabelle Lamrissi-Garcia, Aurélie Bedel, Sandrine Dabernat, François Moreau-Gaudry, G. Cullot, J. Toutain, Caroline Rooryck, Perrine Pennamen, Véronique Guyonnet-Dupérat, D. Cappellen, Samuel Amintas
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-25190-6⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-25190-6⟩
Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-25190-6⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-25190-6⟩
CRISPR-Cas9 is a promising technology for gene therapy. However, the ON-target genotoxicity of CRISPR-Cas9 nuclease due to DNA double-strand breaks has received little attention and is probably underestimated. Here we report that genome editing targe