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Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Ducamp S, Schneider-Yin X, de Rooij F, Clayton J, Fratz EJ, Rudd A, Ostapowicz G, Varigos G, Lefebvre T, Deybach JC, Gouya L, Wilson P, Ferreira GC, Minder EI, Puy H. Ducamp S, et al. Among authors: puy h. Hum Mol Genet. 2013 Apr 1;22(7):1280-8. doi: 10.1093/hmg/dds531. Epub 2012 Dec 20. Hum Mol Genet. 2013. PMID: 23263862
Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coli.
Houamel D, Ducrot N, Lefebvre T, Daher R, Moulouel B, Sari MA, Letteron P, Lyoumi S, Millot S, Tourret J, Bouvet O, Vaulont S, Vandewalle A, Denamur E, Puy H, Beaumont C, Gouya L, Karim Z. Houamel D, et al. Among authors: puy h. J Am Soc Nephrol. 2016 Mar;27(3):835-46. doi: 10.1681/ASN.2014101035. Epub 2015 Aug 20. J Am Soc Nephrol. 2016. PMID: 26293821 Free PMC article.
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.
Daher R, Kannengiesser C, Houamel D, Lefebvre T, Bardou-Jacquet E, Ducrot N, de Kerguenec C, Jouanolle AM, Robreau AM, Oudin C, Le Gac G, Moulouel B, Loustaud-Ratti V, Bedossa P, Valla D, Gouya L, Beaumont C, Brissot P, Puy H, Karim Z, Tchernitchko D. Daher R, et al. Among authors: puy h. Gastroenterology. 2016 Mar;150(3):672-683.e4. doi: 10.1053/j.gastro.2015.10.049. Epub 2015 Nov 12. Gastroenterology. 2016. PMID: 26582087 Free article.
187 results