These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 7689009)

  • 1. Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.
    Hull J; Shackleton S; Harris A
    Hum Mol Genet; 1993 Jun; 2(6):689-92. PubMed ID: 7689009
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.
    Zielenski J; Bozon D; Markiewicz D; Aubin G; Simard F; Rommens JM; Tsui LC
    Hum Mol Genet; 1993 Jun; 2(6):683-7. PubMed ID: 7689008
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Zielenski J; Bozon D; Kerem B; Markiewicz D; Durie P; Rommens JM; Tsui LC
    Genomics; 1991 May; 10(1):229-35. PubMed ID: 1710599
    [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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells.
    Hull J; Shackleton S; Harris A
    Hum Mol Genet; 1994 Jul; 3(7):1141-6. PubMed ID: 7526925
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.
    Dörk T; Fislage R; Neumann T; Wulf B; Tümmler B
    Hum Genet; 1994 Jan; 93(1):67-73. PubMed ID: 7505767
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Strong TV; Smit LS; Nasr S; Wood DL; Cole JL; Iannuzzi MC; Stern RC; Collins FS
    Hum Mutat; 1992; 1(5):380-7. PubMed ID: 1284540
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A donor splice mutation (405 + 1 G-->A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA.
    Dörk T; Will K; Demmer A; Tümmler B
    Hum Mol Genet; 1993 Nov; 2(11):1965-6. PubMed ID: 7506605
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.
    Nemeti M; Johnson JP; Papp Z; Louie E
    Hum Genet; 1992 May; 89(2):245-6. PubMed ID: 1375186
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis.
    Nakakuki M; Fujiki K; Yamamoto A; Ko SB; Yi L; Ishiguro M; Yamaguchi M; Kondo S; Maruyama S; Yanagimoto K; Naruse S; Ishiguro H
    J Hum Genet; 2012 Jul; 57(7):427-33. PubMed ID: 22572733
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.
    Farhat R; El-Seedy A; El-Moussaoui K; Pasquet MC; Adolphe C; Bieth E; Languepin J; Sermet-Gaudelus I; Kitzis A; Ladevèze V
    Biochem Cell Biol; 2015 Feb; 93(1):28-37. PubMed ID: 25403292
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.
    Masvidal L; Igreja S; Ramos MD; Alvarez A; de Gracia J; Ramalho A; Amaral MD; Larriba S; Casals T
    Eur J Hum Genet; 2014 Jun; 22(6):784-91. PubMed ID: 24129438
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia.
    Bremer S; Hoof T; Wilke M; Busche R; Scholte B; Riordan JR; Maass G; Tümmler B
    Eur J Biochem; 1992 May; 206(1):137-49. PubMed ID: 1375156
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene.
    Fonknechten N; Chomel JC; Kitzis A; Kahn A; Kaplan JC
    Hum Mol Genet; 1992 Jul; 1(4):281-2. PubMed ID: 1284626
    [No Abstract]   [Full Text] [Related]  

  • 20. Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.
    Igreja S; Clarke LA; Botelho HM; Marques L; Amaral MD
    Hum Mutat; 2016 Feb; 37(2):209-15. PubMed ID: 26553470
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.