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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: kannengiesser c. 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.
CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.
Papiris SA, Louvrier C, Fabre A, Kaklamanis L, Tsangaris I, Frantzeskaki F, Dimeas IE, Debray MP, Karakontaki F, Kallieri M, Kolilekas L, Daniil Z, Giatromanolaki A, Kannengiesser C, Borie R, Nathan N, Griese M, Manali ED. Papiris SA, et al. Among authors: kannengiesser c. ERJ Open Res. 2023 Dec 18;9(6):00703-2023. doi: 10.1183/23120541.00703-2023. eCollection 2023 Nov. ERJ Open Res. 2023. PMID: 38111540 Free PMC 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