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Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH. Yien YY, et al. Among authors: nicolas g. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. doi: 10.1073/pnas.1700632114. Epub 2017 Sep 5. Proc Natl Acad Sci U S A. 2017. PMID: 28874591 Free PMC article.
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.
Ducamp S, Luscieti S, Ferrer-Cortès X, Nicolas G, Manceau H, Peoc'h K, Yien YY, Kannengiesser C, Gouya L, Puy H, Sanchez M. Ducamp S, et al. Among authors: nicolas g. Haematologica. 2021 Jul 1;106(7):2030-2033. doi: 10.3324/haematol.2020.272450. Haematologica. 2021. PMID: 33596641 Free PMC article. No abstract available.
The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover.
Rondelli CM, Perfetto M, Danoff A, Bergonia H, Gillis S, O'Neill L, Jackson L, Nicolas G, Puy H, West R, Phillips JD, Yien YY. Rondelli CM, et al. Among authors: nicolas g. J Biol Chem. 2021 Aug;297(2):100972. doi: 10.1016/j.jbc.2021.100972. Epub 2021 Jul 16. J Biol Chem. 2021. PMID: 34280433 Free PMC article.
ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell CP, Nicolas G, Desnick RJ, Parker CJ, Lamoril J, Gouya L, Karim Z, Tchernitchko D, Chan B, Puy H, Phillips JD. Farrell CP, et al. Among authors: nicolas g. Blood Adv. 2022 Feb 8;6(3):760-766. doi: 10.1182/bloodadvances.2021005484. Blood Adv. 2022. PMID: 34724702 Free PMC article.
Porphyrias: A 2015 update.
Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H. Karim Z, et al. Among authors: nicolas g. Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-25. doi: 10.1016/j.clinre.2015.05.009. Epub 2015 Jul 2. Clin Res Hepatol Gastroenterol. 2015. PMID: 26142871 Review.
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Mirmiran A, Schmitt C, Lefebvre T, Manceau H, Daher R, Oustric V, Poli A, Lacapère JJ, Moulouel B, Puy H, Karim Z, Peoc'h K, Lenglet H, Simonin S, Deybach JC, Nicolas G, Gouya L. Mirmiran A, et al. Among authors: nicolas g. Am J Hum Genet. 2019 Feb 7;104(2):341-347. doi: 10.1016/j.ajhg.2018.12.021. Epub 2019 Jan 31. Am J Hum Genet. 2019. PMID: 30712775 Free PMC article.
Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.
Mirmiran A, Poli A, Ged C, Schmitt C, Lefebvre T, Manceau H, Daher R, Moulouel B, Peoc'h K, Simonin S, Blouin JM, Deybach JC, Nicolas G, Puy H, Richard E, Gouya L. Mirmiran A, et al. Among authors: nicolas g. Haematologica. 2021 Mar 1;106(3):913-917. doi: 10.3324/haematol.2019.228270. Haematologica. 2021. PMID: 31919078 Free PMC article. No abstract available.
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.
Guillem F, Kannengiesser C, Oudin C, Lenoir A, Matak P, Donadieu J, Isidor B, Méchinaud F, Aguilar-Martinez P, Beaumont C, Vaulont S, Grandchamp B, Nicolas G. Guillem F, et al. Among authors: nicolas g. Hum Mutat. 2012 Sep;33(9):1388-96. doi: 10.1002/humu.22116. Epub 2012 May 30. Hum Mutat. 2012. PMID: 22581667 Free article.
810 results