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Blood|June 10, 2011
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyriaJordi To-Figueras, Sarah Ducamp, Jerome Clayton, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|October 15, 2013
Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in miceConstance Delaby, Vincent Oustric, Caroline Schmitt, et al.
Haematologica|February 2, 2017
Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease modelSarah Millot, Constance Delaby, Boualem Moulouel, et al.
Gastroenterology|July 19, 2011
Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse modelSaïd Lyoumi, Marie Abitbol, Dominique Rainteau, et al.
Haematologica|March 12, 2011
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemiaCaroline Kannengiesser, Mayka Sanchez, Marion Sweeney, et al.
Journal of the American Society of Nephrology : JASN|August 22, 2015
Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coliDounia Houamel, Nicolas Ducrot, Thibaud Lefebvre, et al.
Human Mutation|August 27, 2014
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studiesLuigia De Falco, Laura Silvestri, Caroline Kannengiesser, et al.
American Journal of Human Genetics|April 1, 2014
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyriaVincent Oustric, Hana Manceau, Sarah Ducamp, et al.
American Journal of Human Genetics|September 2, 2008
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overloadSharon D Whatley, Sarah Ducamp, Laurent Gouya, et al.
Human Mutation|February 11, 2011
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutationsSarah Ducamp, Caroline Kannengiesser, Mohamed Touati, et al.
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