Ka C - Search Results

1

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

2

A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis.

Prouzet-Mauléon V, Montibus B, Chauveau A, Hautin M, Migeon M, Ka C, Laharanne E, Bidet A, Corcos L, Lippert E. Prouzet-Mauléon V, et al. Among authors: ka c. Br J Haematol. 2020 Jul;190(2):e104-e107. doi: 10.1111/bjh.16742. Epub 2020 May 19. Br J Haematol. 2020. PMID: 32430933 Free article. No abstract available.

3

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.

4

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

5

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.

Le Tertre M, Ka C, Raud L, Berlivet I, Gourlaouen I, Richard G, Uguen K, Chen JM, Férec C, Fichou Y, Le Gac G. Le Tertre M, et al. Among authors: ka c. Blood Cells Mol Dis. 2021 Mar;87:102527. doi: 10.1016/j.bcmd.2020.102527. Epub 2020 Dec 8. Blood Cells Mol Dis. 2021. PMID: 33341511

6

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.

Raud L, Le Tertre M, Vigneron L, Ka C, Richard G, Callebaut I, Chen JM, Férec C, Le Gac G, Fichou Y. Raud L, et al. Among authors: ka c. Transfusion. 2021 Aug;61(8):2468-2476. doi: 10.1111/trf.16538. Epub 2021 Jun 10. Transfusion. 2021. PMID: 34110623

7

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.

Lin JH, Tang XY, Boulling A, Zou WB, Masson E, Fichou Y, Raud L, Le Tertre M, Deng SJ, Berlivet I, Ka C, Mort M, Hayden M, Leman R, Houdayer C, Le Gac G, Cooper DN, Li ZS, Férec C, Liao Z, Chen JM. Lin JH, et al. Among authors: ka c. Hum Mutat. 2019 Oct;40(10):1856-1873. doi: 10.1002/humu.23821. Epub 2019 Jun 24. Hum Mutat. 2019. PMID: 31131953

8

Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.

Le Tertre M, Elbahnsi A, Ka C, Callebaut I, Le Gac G. Le Tertre M, et al. Among authors: ka c. Int J Mol Sci. 2021 Jun 15;22(12):6412. doi: 10.3390/ijms22126412. Int J Mol Sci. 2021. PMID: 34203920 Free PMC article.

9

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.

Leman R, Tubeuf H, Raad S, Tournier I, Derambure C, Lanos R, Gaildrat P, Castelain G, Hauchard J, Killian A, Baert-Desurmont S, Legros A, Goardon N, Quesnelle C, Ricou A, Castera L, Vaur D, Le Gac G, Ka C, Fichou Y, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Boutry-Kryza N, Schultz I, Caux-Moncoutier V, Rossing M, Walker LC, Spurdle AB, Houdayer C, Martins A, Krieger S. Leman R, et al. Among authors: ka c. BMC Genomics. 2020 Jan 28;21(1):86. doi: 10.1186/s12864-020-6484-5. BMC Genomics. 2020. PMID: 31992191 Free PMC article.

10

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

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