Romey MC - Search Results

1

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: romey mc. 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.

2

A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression.

Romey MC, Pallares-Ruiz N, Mange A, Mettling C, Peytavi R, Demaille J, Claustres M. Romey MC, et al. J Biol Chem. 2000 Feb 4;275(5):3561-7. doi: 10.1074/jbc.275.5.3561. J Biol Chem. 2000. PMID: 10652351 Free article.

3

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. Among authors: romey mc. 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

4

A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.

Culard JF, Desgeorges M, Romey MC, Malzac P, Demaille J, Claustres M. Culard JF, et al. Among authors: romey mc. Hum Mol Genet. 1994 Feb;3(2):369-70. doi: 10.1093/hmg/3.2.369. Hum Mol Genet. 1994. PMID: 7516233 No abstract available.

5

Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.

Romey MC, Desgeorges M, Laussel M, Durand MF, Demaille J, Claustres M. Romey MC, et al. Hum Mol Genet. 1994 Jun;3(6):1003-4. doi: 10.1093/hmg/3.6.1003. Hum Mol Genet. 1994. PMID: 7524910 No abstract available.

6

Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.

Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M. Romey MC, et al. Hum Mutat. 1995;6(2):190-1. doi: 10.1002/humu.1380060216. Hum Mutat. 1995. PMID: 7581407 No abstract available.

7

Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test.

Romey MC, Tuffery S, Desgeorges M, Bienvenu T, Demaille J, Claustres M. Romey MC, et al. Hum Genet. 1996 Sep;98(3):328-32. doi: 10.1007/s004390050217. Hum Genet. 1996. PMID: 8707304

8

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.

Romey MC, Guittard C, Chazalette JP, Frossard P, Dawson KP, Patton MA, Casals T, Bazarbachi T, Girodon E, Rault G, Bozon D, Seguret F, Demaille J, Claustres M. Romey MC, et al. Hum Genet. 1999 Jul-Aug;105(1-2):145-50. doi: 10.1007/s004399900066. Hum Genet. 1999. PMID: 10480369

9

Comprehensive analysis of the renal transcriptional response to acute uranyl nitrate exposure.

Taulan M, Paquet F, Argiles A, Demaille J, Romey MC. Taulan M, et al. Among authors: romey mc. BMC Genomics. 2006 Jan 11;7:2. doi: 10.1186/1471-2164-7-2. BMC Genomics. 2006. PMID: 16405725 Free PMC article.

10

Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.

Romey MC, Desgeorges M, Malzac P, Sarles J, Demaille J, Claustres M. Romey MC, et al. Hum Mol Genet. 1994 Apr;3(4):661-2. doi: 10.1093/hmg/3.4.661. Hum Mol Genet. 1994. PMID: 7520799 No abstract available.

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