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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
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
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A. Kannengiesser C, et al. Haematologica. 2011 Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10. Haematologica. 2011. PMID: 21393332 Free PMC article.
130 results