BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

399 related articles for article (PubMed ID: 11810271)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.
    Chiba-Falek O; Kerem E; Shoshani T; Aviram M; Augarten A; Bentur L; Tal A; Tullis E; Rahat A; Kerem B
    Genomics; 1998 Nov; 53(3):276-83. PubMed ID: 9799593
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
    Beck S; Penque D; Garcia S; Gomes A; Farinha C; Mata L; Gulbenkian S; Gil-Ferreira K; Duarte A; Pacheco P; Barreto C; Lopes B; Cavaco J; Lavinha J; Amaral MD
    Hum Mutat; 1999; 14(2):133-44. PubMed ID: 10425036
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis.
    Highsmith WE; Burch LH; Zhou Z; Olsen JC; Strong TV; Smith T; Friedman KJ; Silverman LM; Boucher RC; Collins FS; Knowles MR
    Hum Mutat; 1997; 9(4):332-8. PubMed ID: 9101293
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
    Kerem E
    Pediatr Pulmonol; 2005 Sep; 40(3):183-96. PubMed ID: 15880796
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
    Highsmith WE; Burch LH; Zhou Z; Olsen JC; Boat TE; Spock A; Gorvoy JD; Quittel L; Friedman KJ; Silverman LM
    N Engl J Med; 1994 Oct; 331(15):974-80. PubMed ID: 7521937
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Splicing defects in the CFTR gene: minigene analysis of two mutations, 1811+1G>C and 1898+3A>G.
    Dujardin G; Commandeur D; Le Jossic-Corcos C; Ferec C; Corcos L
    J Cyst Fibros; 2011 May; 10(3):212-6. PubMed ID: 21317048
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
    Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
    Hum Mutat; 1999; 14(5):359-68. PubMed ID: 10533061
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
    Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
    Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
    Alibakhshi R; Kianishirazi R; Cassiman JJ; Zamani M; Cuppens H
    J Cyst Fibros; 2008 Mar; 7(2):102-9. PubMed ID: 17662673
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
    Chen X; Truong TT; Weaver J; Bove BA; Cattie K; Armstrong BA; Daly MB; Godwin AK
    Hum Mutat; 2006 May; 27(5):427-35. PubMed ID: 16619214
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.