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The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
Hum Mol Genet. 2004 Sep 1;13(17):1913-8. doi: 10.1093/hmg/ddh206. Epub 2004 Jul 14.
Hum Mol Genet. 2004.
PMID: 15254010
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
Le Gac G, Dupradeau FY, Mura C, Jacolot S, Scotet V, Esnault G, Mercier AY, Rochette J, Férec C.
Le Gac G, et al. Among authors: jacolot s.
Blood Cells Mol Dis. 2003 May-Jun;30(3):231-7. doi: 10.1016/s1079-9796(03)00036-6.
Blood Cells Mol Dis. 2003.
PMID: 12737937
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HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.
Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C.
Jacolot S, et al.
Blood. 2004 Apr 1;103(7):2835-40. doi: 10.1182/blood-2003-10-3366. Epub 2003 Dec 11.
Blood. 2004.
PMID: 14670915
Free article.
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Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation.
Mura C, Le Gac G, Jacolot S, Férec C.
Mura C, et al. Among authors: jacolot s.
FASEB J. 2004 Dec;18(15):1922-4. doi: 10.1096/fj.04-2520fje. Epub 2004 Oct 5.
FASEB J. 2004.
PMID: 15467009
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A 6-year survey of HFE gene test for hemochromatosis diagnosis.
Mura C, Raguénes O, Scotet V, Jacolot S, Mercier AY, Férec C.
Mura C, et al. Among authors: jacolot s.
Genet Med. 2005 Jan;7(1):68-73. doi: 10.1097/01.gim.0000151153.21369.63.
Genet Med. 2005.
PMID: 15654232
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Iron metabolism in macrophages from HFE hemochromatosis patients.
Jacolot S, Yang Y, Paitry P, Férec C, Mura C.
Jacolot S, et al.
Mol Genet Metab. 2010 Oct-Nov;101(2-3):258-67. doi: 10.1016/j.ymgme.2010.07.010. Epub 2010 Jul 15.
Mol Genet Metab. 2010.
PMID: 20675164
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Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.
Le Gac G, Mons F, Jacolot S, Scotet V, Férec C, Frébourg T.
Le Gac G, et al. Among authors: jacolot s.
Br J Haematol. 2004 Jun;125(5):674-8. doi: 10.1111/j.1365-2141.2004.04950.x.
Br J Haematol. 2004.
PMID: 15147384
Free article.
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Iron responses in hepatic, intestinal and macrophage/monocyte cell lines under different culture conditions.
Jacolot S, Férec C, Mura C.
Jacolot S, et al.
Blood Cells Mol Dis. 2008 Jul-Aug;41(1):100-8. doi: 10.1016/j.bcmd.2008.01.006. Epub 2008 Mar 5.
Blood Cells Mol Dis. 2008.
PMID: 18321736
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