Taulan M - Search Results

1

Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.

Lopez E, Viart V, Guittard C, Templin C, René C, Méchin D, Des Georges M, Claustres M, Romey-Chatelain MC, Taulan M. Lopez E, et al. Among authors: taulan m. J Med Genet. 2011 Mar;48(3):152-9. doi: 10.1136/jmg.2010.081851. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972246 Free article.

2

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. René C, et al. Among authors: taulan m. Nucleic Acids Res. 2005 Sep 16;33(16):5271-90. doi: 10.1093/nar/gki837. Print 2005. Nucleic Acids Res. 2005. PMID: 16170155 Free PMC article.

3

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. Taulan M, et al. BMC Med Genet. 2007 Apr 20;8:22. doi: 10.1186/1471-2350-8-22. BMC Med Genet. 2007. PMID: 17448246 Free PMC article.

4

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. Taulan M, et al. Biochem Biophys Res Commun. 2007 Sep 28;361(3):775-81. doi: 10.1016/j.bbrc.2007.07.091. Epub 2007 Jul 25. Biochem Biophys Res Commun. 2007. PMID: 17678620

5

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. Taulan M, et al. Eur J Hum Genet. 2009 Dec;17(12):1683-7. doi: 10.1038/ejhg.2009.73. Epub 2009 May 13. Eur J Hum Genet. 2009. PMID: 19436330 Free PMC article.

6

NF-E2-related factor 2, a key inducer of antioxidant defenses, negatively regulates the CFTR transcription.

René C, Lopez E, Claustres M, Taulan M, Romey-Chatelain MC. René C, et al. Among authors: taulan m. Cell Mol Life Sci. 2010 Jul;67(13):2297-309. doi: 10.1007/s00018-010-0336-4. Epub 2010 Mar 23. Cell Mol Life Sci. 2010. PMID: 20309604 Free PMC article.

7

Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.

Viart V, Des Georges M, Claustres M, Taulan M. Viart V, et al. Among authors: taulan m. Eur J Hum Genet. 2012 Feb;20(2):180-4. doi: 10.1038/ejhg.2011.161. Epub 2011 Aug 17. Eur J Hum Genet. 2012. PMID: 21847140 Free PMC article.

8

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene.

Taulan M, Viart V, Theze C, Guittard C, Altieri JP, Templin C, Mely L, Claustres M, des Georges M. Taulan M, et al. Gene. 2012 Jun 1;500(2):194-8. doi: 10.1016/j.gene.2012.03.043. Epub 2012 Mar 29. Gene. 2012. PMID: 22484595

9

Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site.

Giansily-Blaizot M, Lopez E, Viart V, Chafa O, Tapon-Bretaudière J, Claustres M, Taulan M. Giansily-Blaizot M, et al. Among authors: taulan m. Thromb Haemost. 2012 Aug;108(2):277-83. doi: 10.1160/TH11-09-0638. Epub 2012 May 25. Thromb Haemost. 2012. PMID: 22628013

10

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

Raynal C, Baux D, Theze C, Bareil C, Taulan M, Roux AF, Claustres M, Tuffery-Giraud S, des Georges M. Raynal C, et al. Among authors: taulan m. Hum Mutat. 2013 May;34(5):774-84. doi: 10.1002/humu.22291. Epub 2013 Apr 5. Hum Mutat. 2013. PMID: 23381846

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