Publications

2009

BAGE hypomethylation is an early event in colon transformation and is frequent in  histologically advanced adenomas.  Lana E, Brun M.E., Rivals I. Selves J., Kirzin S. Lutsyk A.P., Gordiyuk V.V., Bibeau F., Rynditch A., and De Sario A. Cancers (in press).

Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation. De Sario A. Eur J Med Genet. 2009 Jul 24. [Epub ahead of print]PMID: 19632366 [PubMed - as supplied by publisher]

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements. Taulan M, Guittard C, Theze C, Claustres M, Georges MD. Eur J Hum Genet. 2009 May 13. [Epub ahead of print]PMID: 19436330 [PubMed - as supplied by publisher]

2008

BAGE hypomethylation, a new epigenetic biomarker for colon cancer detection. Grunau C, Brun ME, Rivals I, Selves J, Hindermann W, Favre-Mercuret M, Granier G, De Sario A.Cancer Epidemiol Biomarkers Prev. 2008 Jun;17(6):1374-9. Epub 2008 Jun 9.PMID: 18541613 [PubMed - indexed for MEDLINE]

Mutations in TREM2 lead to pure early-onset dementia without bone cysts. Chouery E, Delague V, Bergougnoux A, Koussa S, Serre JL, Mégarbané A. Hum Mutat. 2008 Jun 10;29(9):E194-E204. [Epub ahead of print]PMID: 18546367 [PubMed - as supplied by publisher]

2007

Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency. Giansily-Blaizot M, Thorel D, Khau Van Kien P, Behar C, Romey MC, Mugneret F, Schved JF, Claustres M.Br J Haematol. 2007 Aug;138(3):359-65.PMID: 17614823 [PubMed - indexed for MEDLINE]

First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding. Taulan M, Lopez E, Guittard C, René C, Baux D, Altieri JP, DesGeorges M, Claustres M, Romey MC. Biochem Biophys Res Commun. 2007 Sep 28;361(3):775-81. Epub 2007 Jul 25.PMID: 17678620 [PubMed - indexed for MEDLINE]

Polyglutamylation is a post-translational modification with a broad range of substrates. van Dijk J, Miro J, Strub JM, Lacroix B, van Dorsselaer A, Edde B, Janke C. J Biol Chem. 2008 Feb 15;283(7):3915-22. Epub 2007 Nov 28.PMID: 18045879 [PubMed - indexed for MEDLINE]

A targeted multienzyme mechanism for selective microtubule polyglutamylation. van Dijk J, Rogowski K, Miro J, Lacroix B, Eddé B, Janke C. Mol Cell. 2007 May 11;26(3):437-48.PMID: 17499049 [PubMed - indexed for MEDLINE]

2006

Mapping of the juxtacentromeric heterochromatin-euchromatin frontier of human chromosome 21. Grunau C, Buard J, Brun ME, De Sario A. Genome Res. 2006 Oct;16(10):1198-207. Epub 2006 Sep 8.PMID: 16963709 [PubMed - indexed for MEDLINE]

Characterization and expression analysis during embryo development of the mouse ortholog of MLL3. Brun ME, Gasca S, Girard C, Bouton K, De Massy B, De Sario A. Gene. 2006 Apr 12;371(1):25-33. Epub 2006 Feb 3.PMID: 16459028 [PubMed - indexed for MEDLINE]

Functional characterization of naturally occurring CFTR mutants: interest for cystic fibrosis Romey MC. Ann Biol Clin (Paris). 2006 Sep-Oct;64(5):429-37. Review. French. PMID: 17040873 [PubMed - indexed for MEDLINE]

Comprehensive analysis of the renal transcriptional response to acute uranyl nitrate exposure. Taulan M, Paquet F, Argiles A, Demaille J, Romey MC. BMC Genomics. 2006 Jan 11;7:2.PMID: 16405725 [PubMed - indexed for MEDLINE]

2005

Frequent DNA hypomethylation of human juxtacentromeric BAGE loci in cancer. Grunau C, Sanchez C, Ehrlich M, van der Bruggen P, Hindermann W, Rodriguez C, Krieger S, Dubeau L, Fiala E, De Sario A. Genes Chromosomes Cancer. 2005 May;43(1):11-24.

Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway. René C, Taulan M, Iral F, Doudement J, L'Honoré A, Gerbon C, Demaille J, Claustres M, Romey MC. Nucleic Acids Res. 2005 Sep 16;33(16):5271-90. Print 2005.PMID: 16170155 [PubMed - indexed for MEDLINE]

Large genomic rearrangements in the CFTR gene contribute to CBAVD. Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M. BMC Med Genet. 2007 Apr 20;8:22.PMID: 17448246 [PubMed - indexed for MEDLINE]