A. G. Gene, G. Transcript, T. , S. Ss2tr2sed, S. Splicesite et al., Query for the number of genes having a NAGGAG motif with the GAG within the coding exon: SELECT count(distinct GeneID), TranscriptID AND SS2Tr2SED.SpliceSiteID = SS.ID AND SS2Tr2SED.SpliceEventDataID = SED.ID AND SS.Type = 'acceptor' AND SED.NumEESTs. = 1 AND SED.NumIESTs = 0

A. G. Species, =. From-gene, G. Transcript, T. , S. Ss2tr2sed et al., Homo sapiens'; Query for the number of genes having a NAGGAG motif with the GAG within the coding exon and with the intron phase = 0: SELECT count(distinct GeneID), TranscriptID AND SS2Tr2SED.SpliceSiteID = SS.ID AND SS2Tr2SED.SpliceEventDataID = SED.ID AND SS.Type = 'acceptor' AND SED.NumEESTs. = 1 AND SED.NumIESTs = 0

A. Sed, phaseUTR like 'intron phase 0' AND G.species = 'Homo sapiens

J. Holbrook, G. Neu-yilik, M. Hentze, and A. Kulozik, Nonsense-mediated decay approaches the clinic, Nature Genetics, vol.90, issue.8, pp.801-808, 2004.
DOI : 10.1038/sj.embor.7400091

R. Maser, R. Zinkel, and J. Petrini, An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele, Nature Genetics, vol.27, issue.4, pp.417-421, 2001.
DOI : 10.1038/86920

L. Maquat, When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells, RNA, vol.1, pp.453-465, 1995.

C. Valentine, The association of nonsense codons with exon skipping, Mutation Research/Reviews in Mutation Research, vol.411, issue.2, pp.87-117, 1998.
DOI : 10.1016/S1383-5742(98)00010-6

M. Hiller, K. Huse, K. Szafranski, N. Jahn, and J. Hampe, Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity, Nature Genetics, vol.321, issue.12, pp.1255-1257, 2004.
DOI : 10.1101/gr.1017303

C. Sugnet, W. Kent, M. Ares, J. Haussler, and D. , TRANSCRIPTOME AND GENOME CONSERVATION OF ALTERNATIVE SPLICING EVENTS IN HUMANS AND MICE, Biocomputing 2004, pp.66-77, 2004.
DOI : 10.1142/9789812704856_0007

M. Zavolan, S. Kondo, C. Schonbach, J. Adachi, and D. Hume, Impact of Alternative Initiation, Splicing, and Termination on the Diversity of the mRNA Transcripts Encoded by the Mouse Transcriptome, Genome Research, vol.13, issue.6, pp.1290-1300, 2003.
DOI : 10.1101/gr.1017303

A. Maugeri, M. Van-driel, D. Van-de-pol, B. Klevering, and F. Van-haren, The 2588G???C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease, The American Journal of Human Genetics, vol.64, issue.4, pp.1024-1035, 1999.
DOI : 10.1086/302323

M. Hiller and M. Platzer, Widespread and subtle: alternative splicing at short-distance tandem sites, Trends in Genetics, vol.24, issue.5, pp.246-255, 2008.
DOI : 10.1016/j.tig.2008.03.003

J. Riordan, J. Rommens, B. Kerem, N. Alon, and R. Rozmahel, Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA, Science, vol.245, issue.4922, pp.1066-1073, 1989.
DOI : 10.1126/science.2475911

M. Nissim-rafinia and B. Kerem, Splicing regulation as a potential genetic modifier, Trends in Genetics, vol.18, issue.3, pp.123-127, 2002.
DOI : 10.1016/S0168-9525(01)02619-1

F. Dupuit, N. Kalin, S. Brezillon, J. Hinnrasky, and B. Tummler, CFTR and differentiation markers expression in non-CF and delta F 508 homozygous CF nasal epithelium., Journal of Clinical Investigation, vol.96, issue.3, pp.1601-1611, 1995.
DOI : 10.1172/JCI118199

L. Linde, S. Boelz, M. Nissim-rafinia, Y. Oren, and M. Wilschanski, Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin, Journal of Clinical Investigation, vol.117, issue.3, pp.683-692, 2007.
DOI : 10.1172/JCI28523DS1

J. Hull, S. Shackleton, and A. Harris, Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells, Human Molecular Genetics, vol.3, issue.7, pp.1141-1146, 1994.
DOI : 10.1093/hmg/3.7.1141

S. Cheng, R. Gregory, J. Marshall, S. Paul, and D. Souza, Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis, Cell, vol.63, issue.4, pp.827-834, 1990.
DOI : 10.1016/0092-8674(90)90148-8

C. Verlingue, B. Mercier, I. Lecoq, M. Audrezet, and D. Laroche, Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis, Human Genetics, vol.93, issue.4, pp.429-434, 1994.
DOI : 10.1007/BF00201669

R. Varon, K. Magdorf, D. Staab, H. Wahn, and M. Krawczak, Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene, Human Molecular Genetics, vol.4, issue.8, pp.1463-1464, 1995.
DOI : 10.1093/hmg/4.8.1463

D. Dayangac, H. Erdem, E. Yilmaz, A. Sahin, and C. Sohn, Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens, Human Reproduction, vol.19, issue.5, pp.1094-1100, 2004.
DOI : 10.1093/humrep/deh223

D. Girgenti, C. Virruso, L. Messineo, R. Cannuscio, A. Termini et al., FROM ???EVOCATIVE??? SYMPTOMS TO GENOTYPE DELTAF508/E831X, Journal of Cystic Fibrosis, vol.7, pp.11-11, 2008.
DOI : 10.1016/S1569-1993(08)60510-X

A. Grangeia, R. Sa, F. Carvalho, J. Martin, and E. Girodon, Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens, Genetics in Medicine, vol.56, issue.3, pp.163-172, 2007.
DOI : 10.1097/GIM.0b013e3180318aaf

N. Rave-harel, E. Kerem, M. Nissim-rafinia, I. Madjar, and R. Goshen, The molecular basis of partial penetrance of splicing mutations in cystic fibrosis, 1997.

P. Noone, C. Pue, Z. Zhou, K. Friedman, and E. Wakeling, Lung Disease Associated with the IVS8 5T Allele of the CFTR Gene, American Journal of Respiratory and Critical Care Medicine, vol.162, issue.5, pp.1919-1924, 2000.
DOI : 10.1164/ajrccm.162.5.2003160

A. Ramalho, S. Beck, M. Meyer, D. Penque, and G. Cutting, Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis, American Journal of Respiratory Cell and Molecular Biology, vol.27, issue.5, pp.619-627, 2002.
DOI : 10.1165/rcmb.2001-0004OC

K. Tsai, W. Tarn, and W. Lin, Wobble Splicing Reveals the Role of the Branch Point Sequence-to-NAGNAG Region in 3' Tandem Splice Site Selection, Molecular and Cellular Biology, vol.27, issue.16, pp.5835-5848, 2007.
DOI : 10.1128/MCB.00363-07

M. Akerman and Y. Mandel-gutfreund, Alternative splicing regulation at tandem 3' splice sites, Nucleic Acids Research, vol.34, issue.1, pp.23-31, 2006.
DOI : 10.1093/nar/gkj408

M. Hiller, K. Huse, K. Szafranski, N. Jahn, and J. Hampe, Single-Nucleotide Polymorphisms in NAGNAG Acceptors Are Highly Predictive for Variations of Alternative Splicing, The American Journal of Human Genetics, vol.78, issue.2, pp.291-302, 2006.
DOI : 10.1086/500151

R. Sinha, S. Nikolajewa, K. Szafranski, M. Hiller, and N. Jahn, Accurate prediction of NAGNAG alternative splicing, Nucleic Acids Research, vol.37, issue.11, pp.3569-3579, 2009.
DOI : 10.1093/nar/gkp220

M. Hiller, K. Szafranski, R. Backofen, and M. Platzer, Alternative Splicing at NAGNAG Acceptors: Simply Noise or Noise and More?, PLoS Genetics, vol.36, issue.11, 2006.
DOI : 1061-4036(2004)036[0240:SYBEOM]2.0.CO;2

K. Livak and T. Schmittgen, Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2???????CT Method, Methods, vol.25, issue.4, pp.402-408, 2001.
DOI : 10.1006/meth.2001.1262

P. Fanen, J. Clain, R. Labarthe, P. Hulin, and E. Girodon, Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis, FEBS Letters, vol.79, issue.3, pp.371-374, 1999.
DOI : 10.1016/S0014-5793(99)00647-X

G. Tanguy, L. Drevillon, N. Arous, A. Hasnain, and A. Hinzpeter, CSN5 binds to misfolded CFTR and promotes its degradation, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, vol.1783, issue.6, pp.1189-1199, 2008.
DOI : 10.1016/j.bbamcr.2008.01.010

E. Caci, A. Caputo, A. Hinzpeter, N. Arous, and P. Fanen, mutagenesis, Biochemical Journal, vol.413, issue.1, pp.135-142, 2008.
DOI : 10.1042/BJ20080029

URL : https://hal.archives-ouvertes.fr/hal-00478945

L. Galietta, P. Haggie, and A. Verkman, Green fluorescent protein-based halide indicators with improved chloride and iodide affinities, FEBS Letters, vol.27, issue.3, pp.220-224, 2001.
DOI : 10.1016/S0014-5793(01)02561-3