| C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload SD Whatley, S Ducamp, L Gouya, B Grandchamp, C Beaumont, ... The American Journal of Human Genetics 83 (3), 408-414, 2008 | 320 | 2008 |
| Comprehensive proteomic analysis of human erythropoiesis EF Gautier, S Ducamp, M Leduc, V Salnot, F Guillonneau, M Dussiot, ... Cell reports 16 (5), 1470-1484, 2016 | 215 | 2016 |
| The molecular genetics of sideroblastic anemia S Ducamp, MD Fleming Blood, The Journal of the American Society of Hematology 133 (1), 59-69, 2019 | 105 | 2019 |
| ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria J To-Figueras, S Ducamp, J Clayton, C Badenas, C Delaby, C Ged, ... Blood, The Journal of the American Society of Hematology 118 (6), 1443-1451, 2011 | 98 | 2011 |
| Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria YY Yien, S Ducamp, LN van der Vorm, JR Kardon, H Manceau, ... Proceedings of the National Academy of Sciences 114 (38), E8045-E8052, 2017 | 83 | 2017 |
| Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations S Ducamp, C Kannengiesser, M Touati, L Garçon, A Guerci‐Bresler, ... Human mutation 32 (6), 590-597, 2011 | 71 | 2011 |
| Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria V Oustric, H Manceau, S Ducamp, R Soaid, Z Karim, C Schmitt, ... The American Journal of Human Genetics 94 (4), 611-617, 2014 | 59 | 2014 |
| p53 activation during ribosome biogenesis regulates normal erythroid differentiation S Le Goff, I Boussaid, C Floquet, A Raimbault, I Hatin, C Andrieu-Soler, ... Blood, The Journal of the American Society of Hematology 137 (1), 89-102, 2021 | 57 | 2021 |
| Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP) S Ducamp, X Schneider-Yin, F de Rooij, J Clayton, EJ Fratz, A Rudd, ... Human molecular genetics 22 (7), 1280-1288, 2013 | 54 | 2013 |
| Excessive erythrocyte PPIX influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria C Delaby, S Lyoumi, S Ducamp, C Martin-Schmitt, L Gouya, JC Deybach, ... Cellular and Molecular Biology 55 (1), 45-52, 2009 | 37 | 2009 |
| XPO1 regulates erythroid differentiation and is a new target for the treatment of β-thalassemia F Guillem, M Dussiot, E Colin, T Suriyun, JB Arlet, N Goudin, G Marcion, ... Haematologica 105 (9), 2240, 2020 | 23 | 2020 |
| Human erythroid 5-aminolevulinate synthase mutations associated with X-linked protoporphyria disrupt the conformational equilibrium and enhance product release EJ Fratz, J Clayton, GA Hunter, S Ducamp, L Breydo, VN Uversky, ... Biochemistry 54 (36), 5617-5631, 2015 | 23 | 2015 |
| Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria AK Dickey, C Quick, S Ducamp, Z Zhu, YCA Feng, H Naik, M Balwani, ... Genetics in Medicine 23 (1), 140-148, 2021 | 22 | 2021 |
| Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia A Crispin, C Guo, C Chen, DR Campagna, PJ Schmidt, D Lichtenstein, ... The Journal of clinical investigation 130 (10), 5245-5256, 2020 | 21 | 2020 |
| Dyserythropoiesis evaluated by the RED score and hepcidin: ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes S Park, O Kosmider, F Maloisel, B Drénou, N Chapuis, T Lefebvre, ... haematologica 104 (3), 497, 2019 | 20 | 2019 |
| A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria S Ducamp, S Luscieti, X Ferrer-Cortès, G Nicolas, H Manceau, K Peoc’h, ... Haematologica 106 (7), 2030, 2021 | 16 | 2021 |
| Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly CB Livideanu, S Ducamp, L Lamant, L Gouya, OB Rauzy, JC Deybach, ... The Journal of investigative dermatology 133 (6), 1688, 2013 | 14 | 2013 |
| Finely-tuned regulation of AMP-activated protein kinase is crucial for human adult erythropoiesis M Ladli, C Richard, LC Aguilar, S Ducamp, S Bondu, P Sujobert, ... haematologica 104 (5), 907, 2019 | 13 | 2019 |
| Inheritance in erythropoietic protoporphyria C Schmitt, S Ducamp, L Gouya, JC Deybach, H Puy Pathologie-biologie 58 (5), 372-380, 2010 | 13 | 2010 |
| Hscb, a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia A Crispin, P Schmidt, D Campagna, C Cao, D Lichtenstein, A Sendamarai, ... Blood, The Journal of the American Society of Hematology 130 (Suppl_1), 79-79, 2017 | 7 | 2017 |
herve puyprofesseur médecine在 aphp.fr 的电子邮件经过验证
