CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations
Cullot, Grégoire, Boutin, Julian, Toutain, Jérôme, Prat, Florence, Pennamen, Perrine, Rooryck, Caroline, Teichmann, Martin, Rousseau, Emilie, Lamrissi-Garcia, Isabelle, Guyonnet-Duperat, Véronique, Bibeyran, Alice, Lalanne, Magalie, Prouzet-Mauléon, Valérie, Turcq, Béatrice, Ged, Cécile, Blouin, Jean-Marc, Richard, Emmanuel, Dabernat, Sandrine, Moreau-Gaudry, François, Bedel, Aurélie
Published in Nature communications (08.03.2019)
Published in Nature communications (08.03.2019)
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Detrimental effects for colonocytes of an increased exposure to luminal hydrogen sulfide: The adaptive response
Beaumont, Martin, Andriamihaja, Mireille, Lan, Annaïg, Khodorova, Nadezda, Audebert, Marc, Blouin, Jean-Marc, Grauso, Marta, Lancha, Luciana, Benetti, Pierre-Henri, Benamouzig, Robert, Tomé, Daniel, Bouillaud, Frédéric, Davila, Anne-Marie, Blachier, François
Published in Free radical biology & medicine (01.04.2016)
Published in Free radical biology & medicine (01.04.2016)
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Butyrate elicits a metabolic switch in human colon cancer cells by targeting the pyruvate dehydrogenase complex
Blouin, Jean‐Marc, Penot, Graziella, Collinet, Martine, Nacfer, Magali, Forest, Claude, Laurent‐Puig, Pierre, Coumoul, Xavier, Barouki, Robert, Benelli, Chantal, Bortoli, Sylvie
Published in International journal of cancer (01.06.2011)
Published in International journal of cancer (01.06.2011)
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Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria
Mirmiran, Arienne, Poli, Antoine, Ged, Cecile, Schmitt, Caroline, Lefebvre, Thibaud, Manceau, Hana, Daher, Raêd, Moulouel, Boualem, Peoc'h, Katell, Simonin, Sylvie, Blouin, Jean-Marc, Deybach, Jean-Charles, Nicolas, Gaël, Puy, Hervé, Richard, Emmanuel, Gouya, Laurent
Published in Haematologica (Roma) (01.03.2021)
Published in Haematologica (Roma) (01.03.2021)
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Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives
Goudet, Claire, Ged, Cécile, Petit, Audrey, Desage, Chloe, Mahe, Perrine, Salhi, Aicha, Harzallah, Ines, Blouin, Jean-Marc, Mercie, Patrick, Schmitt, Caroline, Poli, Antoine, Gouya, Laurent, Barlogis, Vincent, Richard, Emmanuel
Published in Life (Basel, Switzerland) (01.01.2024)
Published in Life (Basel, Switzerland) (01.01.2024)
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Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review
Redonnet-Vernhet, Isabelle, Mercié, Patrick, Lebreton, Louis, Blouin, Jean-Marc, Bronnimann, Didier, Mesli, Samir, Guibet, Claire, Ribeiro, Emmanuel, Gensous, Noémie, Duffau, Pierre, Gouya, Laurent, Richard, Emmanuel
Published in Molecular genetics and metabolism reports (01.06.2024)
Published in Molecular genetics and metabolism reports (01.06.2024)
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An Orthotopic Model of Glioblastoma Is Resistant to Radiodynamic Therapy with 5-AminoLevulinic Acid
Dupin, Charles, Sutter, Jade, Amintas, Samuel, Derieppe, Marie-Alix, Lalanne, Magalie, Coulibaly, Soule, Guyon, Joris, Daubon, Thomas, Boutin, Julian, Blouin, Jean-Marc, Richard, Emmanuel, Moreau-Gaudry, François, Bedel, Aurélie, Vendrely, Véronique, Dabernat, Sandrine
Published in Cancers (31.08.2022)
Published in Cancers (31.08.2022)
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Journal Article
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria
Blouin, Jean-Marc, Duchartre, Yann, Costet, Pierre, Lalanne, Magalie, Ged, Cécile, Lain, Ana, Millet, Oscar, de Verneuil, Hubert, Richard, Emmanuel
Published in Proceedings of the National Academy of Sciences - PNAS (05.11.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (05.11.2013)
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Journal Article
Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1
Estève, Julie, Blouin, Jean-Marc, Lalanne, Magalie, Azzi-Martin, Lamia, Dubus, Pierre, Bidet, Audrey, Harambat, Jérôme, Llanas, Brigitte, Moranvillier, Isabelle, Bedel, Aurélie, Moreau-Gaudry, François, Richard, Emmanuel
Published in Stem cell research (01.07.2019)
Published in Stem cell research (01.07.2019)
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Journal Article
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy
Blouin, Jean-Marc, Ged, Cécile, Bernardo-Seisdedos, Ganeko, Cabantous, Txomin, Pinson, Benoît, Poli, Antoine, Puy, Hervé, Millet, Oscar, Gouya, Laurent, Morice-Picard, Fanny, Richard, Emmanuel
Published in Molecular genetics and metabolism reports (01.06.2021)
Published in Molecular genetics and metabolism reports (01.06.2021)
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Journal Article
Lactose malabsorption and colonic fermentations alter host metabolism in rats
Alexandre, Virginie, Even, Patrick C., Larue-Achagiotis, Christiane, Blouin, Jean-Marc, Blachier, François, Benamouzig, Robert, Tomé, Daniel, Davila, Anne-Marie
Published in British journal of nutrition (28.08.2013)
Published in British journal of nutrition (28.08.2013)
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Journal Article
High-protein diet modifies colonic microbiota and luminal environment but not colonocyte metabolism in the rat model: the increased luminal bulk connection
Liu, Xinxin, Blouin, Jean-Marc, Santacruz, Arlette, Lan, Annaïg, Andriamihaja, Mireille, Wilkanowicz, Sabina, Benetti, Pierre-Henri, Tomé, Daniel, Sanz, Yolanda, Blachier, François, Davila, Anne-Marie
Published in American journal of physiology: Gastrointestinal and liver physiology (15.08.2014)
Published in American journal of physiology: Gastrointestinal and liver physiology (15.08.2014)
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Journal Article
Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria
Blouin, Jean-Marc, Ged, Cécile, Lalanne, Magalie, Lamrissi-Garcia, Isabelle, Morice-Picard, Fanny, Costet, Pierre, Daher, Raêd, Moreau-Gaudry, François, Bedel, Aurélie, Puy, Hervé, Gouya, Laurent, Karim, Zoubida, Richard, Emmanuel
Published in Blood (19.11.2020)
Published in Blood (19.11.2020)
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Journal Article
Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology
Estève, Julie, Blouin, Jean-Marc, Lalanne, Magalie, Azzi-Martin, Lamia, Dubus, Pierre, Bidet, Audrey, Harambat, Jérôme, Llanas, Brigitte, Moranvillier, Isabelle, Bedel, Aurélie, Moreau-Gaudry, François, Richard, Emmanuel
Published in Biochemical and biophysical research communications (01.10.2019)
Published in Biochemical and biophysical research communications (01.10.2019)
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Journal Article
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition
Blouin, Jean-Marc, Bernardo-Seisdedos, Ganeko, Sasso, Emma, Esteve, Julie, Ged, Cécile, Lalanne, Magalie, Sanz-Parra, Arantza, Urquiza, Pedro, de Verneuil, Hubert, Millet, Oscar, Richard, Emmanuel
Published in Human molecular genetics (15.04.2017)
Published in Human molecular genetics (15.04.2017)
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Journal Article
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria
Urquiza, Pedro, Laín, Ana, Sanz-Parra, Arantza, Moreno, Jorge, Bernardo-Seisdedos, Ganeko, Dubus, Pierre, González, Esperanza, Gutiérrez-de-Juan, Virginia, García, Sandra, Eraña, Hasier, San Juan, Itxaso, Macías, Iratxe, Ben Bdira, Fredj, Pluta, Paula, Ortega, Gabriel, Oyarzábal, Julen, González-Muñiz, Rosario, Rodríguez-Cuesta, Juan, Anguita, Juan, Díez, Emilio, Blouin, Jean-Marc, de Verneuil, Hubert, Mato, José M, Richard, Emmanuel, Falcón-Pérez, Juan M, Castilla, Joaquín, Millet, Oscar
Published in Science translational medicine (19.09.2018)
Published in Science translational medicine (19.09.2018)
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Journal Article
Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria)
Lefebvre, Thibaud, Millot, Sarah, Richard, Emmanuel, Blouin, Jean-Marc, Lalanne, Magalie, Lamrissi-Garcia, Isabelle, Costet, Pierre, Lyoumi, Said, Gouya, Laurent, Puy, Hervé, Moreau-Gaudry, François, de Verneuil, Hubert, Karim, Zoubida, Ged, Cécile
Published in Biochemical and biophysical research communications (03.12.2019)
Published in Biochemical and biophysical research communications (03.12.2019)
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Journal Article
High-protein diet differently modifies intestinal goblet cell characteristics and mucosal cytokine expression in ileum and colon
Lan, Annaïg, Andriamihaja, Mireille, Blouin, Jean-Marc, Liu, Xinxin, Descatoire, Véronique, Desclée de Maredsous, Caroline, Davila, Anne-Marie, Walker, Francine, Tomé, Daniel, Blachier, François
Published in The Journal of nutritional biochemistry (01.01.2015)
Published in The Journal of nutritional biochemistry (01.01.2015)
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Journal Article
Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells
Prat, Florence, Toutain, Jérôme, Boutin, Julian, Amintas, Samuel, Cullot, Grégoire, Lalanne, Magalie, Lamrissi-Garcia, Isabelle, Moranvillier, Isabelle, Richard, Emmanuel, Blouin, Jean-Marc, Dabernat, Sandrine, Moreau-Gaudry, François, Bedel, Aurélie
Published in Stem cell reports (08.09.2020)
Published in Stem cell reports (08.09.2020)
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Journal Article
Late diagnosis of primary hyperoxaluria type III
Richard, Emmanuel, Blouin, Jean-Marc, Harambat, Jérome, Llanas, Brigitte, Bouchet, Stéphane, Acquaviva, Cécile, de la Faille, Renaud
Published in Annals of clinical biochemistry (01.05.2017)
Published in Annals of clinical biochemistry (01.05.2017)
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