155 related articles for article (PubMed ID: 7514569)
1. The stop mutation R553X in the CFTR gene results in exon skipping.
Hull J; Shackleton S; Harris A
Genomics; 1994 Jan; 19(2):362-4. PubMed ID: 7514569
[TBL] [Abstract][Full Text] [Related]
2. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.
Hamosh A; Trapnell BC; Zeitlin PL; Montrose-Rafizadeh C; Rosenstein BJ; Crystal RG; Cutting GR
J Clin Invest; 1991 Dec; 88(6):1880-5. PubMed ID: 1721624
[TBL] [Abstract][Full Text] [Related]
3. Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.
Will K; Dörk T; Stuhrmann M; von der Hardt H; Ellemunter H; Tümmler B; Schmidtke J
Hum Mutat; 1995; 5(3):210-20. PubMed ID: 7541274
[TBL] [Abstract][Full Text] [Related]
4. A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
Will K; Dörk T; Stuhrmann M; Meitinger T; Bertele-Harms R; Tümmler B; Schmidtke J
J Clin Invest; 1994 Apr; 93(4):1852-9. PubMed ID: 7512993
[TBL] [Abstract][Full Text] [Related]
5. Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.
Rolfini R; Cabrini G
J Clin Invest; 1993 Dec; 92(6):2683-7. PubMed ID: 7504691
[TBL] [Abstract][Full Text] [Related]
6. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
Chu CS; Trapnell BC; Curristin S; Cutting GR; Crystal RG
Nat Genet; 1993 Feb; 3(2):151-6. PubMed ID: 7684646
[TBL] [Abstract][Full Text] [Related]
7. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Tzetis M; Efthymiadou A; Doudounakis S; Kanavakis E
Hum Genet; 2001 Dec; 109(6):592-601. PubMed ID: 11810271
[TBL] [Abstract][Full Text] [Related]
8. Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
Chu CS; Trapnell BC; Curristin SM; Cutting GR; Crystal RG
J Clin Invest; 1992 Sep; 90(3):785-90. PubMed ID: 1381723
[TBL] [Abstract][Full Text] [Related]
9. Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
Verlingue C; Kapranov NI; Mercier B; Ginter EK; Petrova NV; Audrezet MP; Férec C
Hum Mutat; 1995; 5(3):205-9. PubMed ID: 7541273
[TBL] [Abstract][Full Text] [Related]
10. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
Steiner B; Truninger K; Sanz J; Schaller A; Gallati S
Hum Mutat; 2004 Aug; 24(2):120-9. PubMed ID: 15241793
[TBL] [Abstract][Full Text] [Related]
11. A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
Dörk T; Will K; Grade K; Krawczak M; Tümmler B
Hum Mutat; 1994; 4(1):65-70. PubMed ID: 7524915
[TBL] [Abstract][Full Text] [Related]
12. Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.
Alibakhshi R; Zamani M
Iran J Allergy Asthma Immunol; 2006 Mar; 5(1):3-8. PubMed ID: 17242497
[TBL] [Abstract][Full Text] [Related]
13. Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.
Weiss FU; Simon P; Bogdanova N; Mayerle J; Dworniczak B; Horst J; Lerch MM
Gut; 2005 Oct; 54(10):1456-60. PubMed ID: 15987793
[TBL] [Abstract][Full Text] [Related]
14. Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.
Shoshani T; Kerem E; Szeinberg A; Augarten A; Yahav Y; Cohen D; Rivlin J; Tal A; Kerem B
J Clin Invest; 1994 Apr; 93(4):1502-7. PubMed ID: 7512981
[TBL] [Abstract][Full Text] [Related]
15. Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.
Ravnik-Glavac M; Glavac D; Chernick M; di Sant'Agnese P; Dean M
Hum Mutat; 1994; 3(3):231-8. PubMed ID: 7517265
[TBL] [Abstract][Full Text] [Related]
16. CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.
Will K; Reiss J; Dean M; Schlösser M; Slomski R; Schmidtke J; Stuhrmann M
J Med Genet; 1993 Oct; 30(10):833-7. PubMed ID: 7693946
[TBL] [Abstract][Full Text] [Related]
17. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
Aznarez I; Zielenski J; Rommens JM; Blencowe BJ; Tsui LC
J Med Genet; 2007 May; 44(5):341-6. PubMed ID: 17475917
[TBL] [Abstract][Full Text] [Related]
18. Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Zielenski J; Markiewicz D; Chen HS; Schappert K; Seller A; Durie P; Corey M; Tsui LC
Hum Mutat; 1995; 5(1):43-7. PubMed ID: 7537150
[TBL] [Abstract][Full Text] [Related]
19. Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.
Shackleton S; Hull J; Dear S; Seller A; Thomson A; Harris A
Hum Mutat; 1994; 3(2):141-51. PubMed ID: 7515303
[TBL] [Abstract][Full Text] [Related]
20. Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
Chillón M; Palacio A; Nunes V; Casals T; Giménez J; Estivill X
Hum Mutat; 1992; 1(1):75-6. PubMed ID: 1284477
[No Abstract] [Full Text] [Related]
[Next] [New Search]