受强制性开放获取政策约束的文章 - Sarah Ducamp了解详情
可在其他位置公开访问的文章：13 篇
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
强制性开放获取政策： National Institute of Health and Medical Research, France
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
强制性开放获取政策： US National Institutes of Health
The molecular genetics of sideroblastic anemia
S Ducamp, MD Fleming
Blood, The Journal of the American Society of Hematology 133 (1), 59-69, 2019
强制性开放获取政策： US National Institutes of Health
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
强制性开放获取政策： Government of Spain
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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute
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
强制性开放获取政策： US National Institutes of Health, National Institute of Health and Medical …
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
强制性开放获取政策： US National Institutes of Health
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, 2019
强制性开放获取政策： Agence Nationale de la Recherche
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
强制性开放获取政策： US National Institutes of Health, European Commission
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
强制性开放获取政策： US National Institutes of Health
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
强制性开放获取政策： US National Institutes of Health, Agence Nationale de la Recherche …
Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria
AK Dickey, L Rebeiz, H Raef, RK Leaf, S Elmariah, H Naik, K Anderson, ...
Journal of the American Academy of Dermatology 88 (5), 1148-1151, 2023
强制性开放获取政策： US National Institutes of Health
Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesis
AG Maynard, NK Pohl, AP Mueller, B Petrova, AYL Wong, P Wang, ...
Science Advances 10 (5), eadj9479, 2024
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research
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