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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: kannengiesser c. Hum Mutat. 2012 Sep;33(9):1388-96. doi: 10.1002/humu.22116. Epub 2012 May 30. Hum Mutat. 2012. PMID: 22581667 Free article.
TERT Promoter Mutations as Simple and Non-Invasive Urinary Biomarkers for the Detection of Urothelial Bladder Cancer in a High-Risk Region.
Pakmanesh H, Anvari O, Forey N, Weiderpass E, Malekpourafshar R, Iranpour M, Shahesmaeili A, Ahmadi N, Bazrafshan A, Zendehdel K, Kannengiesser C, Ba I, McKay J, Zvereva M, Hosen MI, Sheikh M, Calvez-Kelm FL. Pakmanesh H, et al. Among authors: kannengiesser c. Int J Mol Sci. 2022 Nov 18;23(22):14319. doi: 10.3390/ijms232214319. Int J Mol Sci. 2022. PMID: 36430798 Free PMC article.
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
Kannengiesser C, Jouanolle AM, Hetet G, Mosser A, Muzeau F, Henry D, Bardou-Jacquet E, Mornet M, Brissot P, Deugnier Y, Grandchamp B, Beaumont C. Kannengiesser C, et al. Haematologica. 2009 Mar;94(3):335-9. doi: 10.3324/haematol.2008.000125. Epub 2009 Jan 27. Haematologica. 2009. PMID: 19176363 Free PMC article.
Not all DMT1 mutations lead to iron overload.
Blanco E, Kannengiesser C, Grandchamp B, Tasso M, Beaumont C. Blanco E, et al. Among authors: kannengiesser c. Blood Cells Mol Dis. 2009 Sep-Oct;43(2):199-201. doi: 10.1016/j.bcmd.2009.05.003. Epub 2009 Jun 24. Blood Cells Mol Dis. 2009. PMID: 19553145
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. Ducamp S, et al. Among authors: kannengiesser c. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041
139 results