Ka C - Search Results

1

The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.

Santinelli R, Benz N, Guellec J, Quinquis F, Kocas E, Thomas J, Montier T, Ka C, Luczka-Majérus E, Sage E, Férec C, Coraux C, Trouvé P. Santinelli R, et al. Among authors: ka c. Cells. 2024 Jan 18;13(2):185. doi: 10.3390/cells13020185. Cells. 2024. PMID: 38247876 Free PMC article.

2

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Le Gac G, Scotet V, Ka C, Gourlaouen I, Bryckaert L, Jacolot S, Mura C, Férec C. Le Gac G, et al. Among authors: ka c. 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

3

The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

Ka C, Le Gac G, Dupradeau FY, Rochette J, Férec C. Ka C, et al. Hum Genet. 2005 Sep;117(5):467-75. doi: 10.1007/s00439-005-1307-y. Epub 2005 Jun 18. Hum Genet. 2005. PMID: 15965644

4

Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements.

Moisan S, Berlivet S, Ka C, Le Gac G, Dostie J, Férec C. Moisan S, et al. Among authors: ka c. Nucleic Acids Res. 2016 Apr 7;44(6):2564-76. doi: 10.1093/nar/gkv1300. Epub 2015 Nov 28. Nucleic Acids Res. 2016. PMID: 26615198 Free PMC article.

5

The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin.

Le Gac G, Gourlaouen I, Ka C, Férec C. Le Gac G, et al. Among authors: ka c. Gastroenterology. 2016 Oct;151(4):769-70. doi: 10.1053/j.gastro.2016.03.054. Epub 2016 Aug 30. Gastroenterology. 2016. PMID: 27590690 No abstract available.

6

Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.

Le Tertre M, Ka C, Guellec J, Gourlaouen I, Férec C, Callebaut I, Le Gac G. Le Tertre M, et al. Among authors: ka c. Transfus Clin Biol. 2017 Nov;24(4):462-467. doi: 10.1016/j.tracli.2017.07.002. Epub 2017 Aug 18. Transfus Clin Biol. 2017. PMID: 28826751

7

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Cassiman D, de Ledinghen V, Varet B, de Kerguenec C, Oudin C, Gourlaouen I, Lefebvre T, Férec C, Callebaut I, Le Gac G. Ka C, et al. Haematologica. 2018 Nov;103(11):1796-1805. doi: 10.3324/haematol.2018.189845. Epub 2018 Jul 12. Haematologica. 2018. PMID: 30002125 Free PMC article.

8

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.

Raud L, Ka C, Gourlaouen I, Callebaut I, Férec C, Le Gac G, Fichou Y. Raud L, et al. Among authors: ka c. Transfusion. 2019 Apr;59(4):1367-1375. doi: 10.1111/trf.15210. Epub 2019 Feb 27. Transfusion. 2019. PMID: 30811032

9

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.

Guellec J, Elbahnsi A, Tertre ML, Uguen K, Gourlaouen I, Férec C, Ka C, Callebaut I, Gac GL. Guellec J, et al. Among authors: ka c. FASEB J. 2019 Dec;33(12):14625-14635. doi: 10.1096/fj.201901857R. Epub 2019 Nov 5. FASEB J. 2019. PMID: 31690120

-Guellec, J., Elbahnsi, A., Le Tertre, M., Uguen, K., Gourlaouen, I., Ferec, C., Ka, C., Callebaut, I., Le Gac, G. Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A....

-Guellec, J., Elbahnsi, A., Le Tertre, M., Uguen, K., Gourlaouen, I., Ferec, C., Ka, C., Callebaut, I., Le Gac, G. Mole …

10

TIMP1 intron 3 retention is a marker of colon cancer progression controlled by hnRNPA1.

Flodrops M, Dujardin G, Busson A, Trouvé P, Ka C, Simon B, Arzur D, Le Jossic-Corcos C, Corcos L. Flodrops M, et al. Among authors: ka c. Mol Biol Rep. 2020 Apr;47(4):3031-3040. doi: 10.1007/s11033-020-05375-w. Epub 2020 Mar 21. Mol Biol Rep. 2020. PMID: 32200451

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