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Items: 26

1.

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, Férec C, Ka C, Callebaut I, Le Gac G.

FASEB J. 2019 Nov 5:fj201901857R. doi: 10.1096/fj.201901857R. [Epub ahead of print]

PMID:
31690120
2.

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.

Hum Mutat. 2019 Oct;40(10):1856-1873. doi: 10.1002/humu.23821. Epub 2019 Jun 24.

PMID:
31131953
3.

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.

Transfusion. 2019 Apr;59(4):1367-1375. doi: 10.1111/trf.15210. Epub 2019 Feb 27.

PMID:
30811032
4.

Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R, Gaildrat P, Gac GL, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Paillerets BB, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.

Nucleic Acids Res. 2018 Nov 30;46(21):11656-11657. doi: 10.1093/nar/gky979. No abstract available.

5.

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.

Haematologica. 2018 Nov;103(11):1796-1805. doi: 10.3324/haematol.2018.189845. Epub 2018 Jul 12.

6.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R, Gaildrat P, Gac GL, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.

Nucleic Acids Res. 2018 Sep 6;46(15):7913-7923. doi: 10.1093/nar/gky372. Erratum in: Nucleic Acids Res. 2018 Nov 30;46(21):11656-11657.

7.

Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.

Uguen K, Scotet V, Ka C, Gourlaouen I, L'hostis C, Merour MC, Cuppens T, Ferec C, Le Gac G.

Am J Hematol. 2017 Dec;92(12):E664-E666. doi: 10.1002/ajh.24912. Epub 2017 Oct 23. No abstract available.

8.

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.

Gastroenterology. 2016 Oct;151(4):769-70. doi: 10.1053/j.gastro.2016.03.054. Epub 2016 Aug 30. No abstract available.

PMID:
27590690
9.

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.

Nucleic Acids Res. 2016 Apr 7;44(6):2564-76. doi: 10.1093/nar/gkv1300. Epub 2015 Nov 28.

10.

Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis.

Ka C, Chen JM, Gourlaouen I, Quemener S, Ronsin C, Massonnet S, Thérond JP, Férec C, Le Gac G.

Br J Haematol. 2015 Mar;168(5):759-62. doi: 10.1111/bjh.13145. Epub 2014 Oct 4. No abstract available.

PMID:
25284364
11.

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G.

Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8.

PMID:
24714983
12.

Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.

Le Gac G, Ka C, Joubrel R, Gourlaouen I, Lehn P, Mornon JP, Férec C, Callebaut I.

Hum Mutat. 2013 Oct;34(10):1371-80. doi: 10.1002/humu.22369. Epub 2013 Sep 10.

PMID:
23784628
13.

Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles.

Fichou Y, Le Maréchal C, Jamet D, Bryckaert L, Ka C, Audrézet MP, Le Gac G, Dupont I, Chen JM, Férec C.

Transfusion. 2013 Aug;53(8):1821-8. doi: 10.1111/trf.12009. Epub 2012 Dec 11.

PMID:
23228153
14.

HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype.

Le Gac G, Ka C, Gourlaouen I, Bryckaert L, Mercier AY, Chanu B, Scotet V, Férec C.

Adv Hematol. 2009;2009:251701. doi: 10.1155/2009/251701. Epub 2009 Nov 5.

15.

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

Létocart E, Le Gac G, Majore S, Ka C, Radio FC, Gourlaouen I, De Bernardo C, Férec C, Grammatico P.

Br J Haematol. 2009 Nov;147(3):379-85. doi: 10.1111/j.1365-2141.2009.07834.x. Epub 2009 Aug 25.

PMID:
19709084
16.

Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation.

Ka C, Le Gac G, Letocart E, Gourlaouen I, Martin B, Férec C.

Haematologica. 2007 Sep;92(9):1262-3.

17.

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.

Hum Genet. 2005 Sep;117(5):467-75. Epub 2005 Jun 18.

PMID:
15965644
18.

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.

Scotet V, Le Gac G, Mérour MC, Mercier AY, Chanu B, Ka C, Mura C, Nousbaum JB, Férec C.

BMC Med Genet. 2005 Jun 1;6:24.

19.

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.

Hum Mol Genet. 2004 Sep 1;13(17):1913-8. Epub 2004 Jul 14.

PMID:
15254010
20.

Deletion of the 5'ABL region in Philadelphia chromosome positive chronic myeloid leukemia: frequency, origin and prognosis.

Morel F, Ka C, Le Bris MJ, Herry A, Morice P, Bourquard P, Abgrall JF, Berthou C, De Braekeleer M.

Leuk Lymphoma. 2003 Aug;44(8):1333-8.

PMID:
12952226
21.

Protein kinase C mu (PKC mu) associates with the B cell antigen receptor complex and regulates lymphocyte signaling.

Sidorenko SP, Law CL, Klaus SJ, Chandran KA, Takata M, Kurosaki T, Clark EA.

Immunity. 1996 Oct;5(4):353-63.

22.
23.

CD22 associates with protein tyrosine phosphatase 1C, Syk, and phospholipase C-gamma(1) upon B cell activation.

Law CL, Sidorenko SP, Chandran KA, Zhao Z, Shen SH, Fischer EH, Clark EA.

J Exp Med. 1996 Feb 1;183(2):547-60.

24.

Ig domains 1 and 2 of murine CD22 constitute the ligand-binding domain and bind multiple sialylated ligands expressed on B and T cells.

Law CL, Aruffo A, Chandran KA, Doty RT, Clark EA.

J Immunol. 1995 Oct 1;155(7):3368-76.

PMID:
7561031
25.

Human spleen tyrosine kinase p72Syk associates with the Src-family kinase p53/56Lyn and a 120-kDa phosphoprotein.

Sidorenko SP, Law CL, Chandran KA, Clark EA.

Proc Natl Acad Sci U S A. 1995 Jan 17;92(2):359-63.

26.

Molecular cloning of human Syk. A B cell protein-tyrosine kinase associated with the surface immunoglobulin M-B cell receptor complex.

Law CL, Sidorenko SP, Chandran KA, Draves KE, Chan AC, Weiss A, Edelhoff S, Disteche CM, Clark EA.

J Biol Chem. 1994 Apr 22;269(16):12310-9.

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