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Journal Abstract Search

218 related items for PubMed ID: 16798551

  • 1. Mutation specific therapy in CF.
    Kerem E.
    Paediatr Respir Rev; 2006; 7 Suppl 1():S166-9. PubMed ID: 16798551
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  • 2. 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
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  • 3. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations.
    Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah-Abram T, Bebok Z, Shushi L, Kerem B, Kerem E.
    N Engl J Med; 2003 Oct 09; 349(15):1433-41. PubMed ID: 14534336
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  • 4. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.
    Linde L, Boelz S, Nissim-Rafinia M, Oren YS, Wilschanski M, Yaacov Y, Virgilis D, Neu-Yilik G, Kulozik AE, Kerem E, Kerem B.
    J Clin Invest; 2007 Mar 09; 117(3):683-92. PubMed ID: 17290305
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  • 6. The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein.
    Melin P, Thoreau V, Norez C, Bilan F, Kitzis A, Becq F.
    Biochem Pharmacol; 2004 Jun 15; 67(12):2187-96. PubMed ID: 15163550
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  • 7. Pharmacologic therapy for stop mutations: how much CFTR activity is enough?
    Kerem E.
    Curr Opin Pulm Med; 2004 Nov 15; 10(6):547-52. PubMed ID: 15510065
    [Abstract] [Full Text] [Related]

  • 8. Direct interaction of a small-molecule modulator with G551D-CFTR, a cystic fibrosis-causing mutation associated with severe disease.
    Pasyk S, Li C, Ramjeesingh M, Bear CE.
    Biochem J; 2009 Feb 15; 418(1):185-90. PubMed ID: 18945216
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  • 9. 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 01; 53(3):276-83. PubMed ID: 9799593
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  • 10. 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 01; 109(6):592-601. PubMed ID: 11810271
    [Abstract] [Full Text] [Related]

  • 11. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
    Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH.
    Nature; 1990 Jul 26; 346(6282):366-9. PubMed ID: 1695717
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  • 14. Insights into the mechanisms underlying CFTR channel activity, the molecular basis for cystic fibrosis and strategies for therapy.
    Kim Chiaw P, Eckford PD, Bear CE.
    Essays Biochem; 2011 Sep 07; 50(1):233-48. PubMed ID: 21967060
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  • 15. 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 Sep 07; 14(2):133-44. PubMed ID: 10425036
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  • 19. In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study.
    Sermet-Gaudelus I, Renouil M, Fajac A, Bidou L, Parbaille B, Pierrot S, Davy N, Bismuth E, Reinert P, Lenoir G, Lesure JF, Rousset JP, Edelman A.
    BMC Med; 2007 Mar 29; 5():5. PubMed ID: 17394637
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  • 20. Specific rescue of cystic fibrosis transmembrane conductance regulator processing mutants using pharmacological chaperones.
    Wang Y, Bartlett MC, Loo TW, Clarke DM.
    Mol Pharmacol; 2006 Jul 29; 70(1):297-302. PubMed ID: 16624886
    [Abstract] [Full Text] [Related]

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