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316 related items for PubMed ID: 21548936

  • 1. An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion.
    Stanke F, Hedtfeld S, Becker T, Tümmler B.
    BMC Med Genet; 2011 May 06; 12():62. PubMed ID: 21548936
    [Abstract] [Full Text] [Related]

  • 2. Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.
    Stanke F, Becker T, Kumar V, Hedtfeld S, Becker C, Cuppens H, Tamm S, Yarden J, Laabs U, Siebert B, Fernandez L, Macek M, Radojkovic D, Ballmann M, Greipel J, Cassiman JJ, Wienker TF, Tümmler B.
    J Med Genet; 2011 Jan 06; 48(1):24-31. PubMed ID: 20837493
    [Abstract] [Full Text] [Related]

  • 3. The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells.
    Stanke F, van Barneveld A, Hedtfeld S, Wölfl S, Becker T, Tümmler B.
    Eur J Hum Genet; 2014 May 06; 22(5):660-6. PubMed ID: 24105369
    [Abstract] [Full Text] [Related]

  • 4. Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs.
    Mekus F, Laabs U, Veeze H, Tümmler B.
    Hum Genet; 2003 Jan 06; 112(1):1-11. PubMed ID: 12483292
    [Abstract] [Full Text] [Related]

  • 5. Cystic fibrosis transmembrane conductance regulator (CFTR)-mediated residual chloride secretion does not protect against early chronic Pseudomonas aeruginosa infection in F508del homozygous cystic fibrosis patients.
    Derichs N, Mekus F, Bronsveld I, Bijman J, Veeze HJ, von der Hardt H, Tummler B, Ballmann M.
    Pediatr Res; 2004 Jan 06; 55(1):69-75. PubMed ID: 14605249
    [Abstract] [Full Text] [Related]

  • 6. Expression of delta F508 cystic fibrosis transmembrane conductance regulator protein and related chloride transport properties in the gallbladder epithelium from cystic fibrosis patients.
    Dray-Charier N, Paul A, Scoazec JY, Veissière D, Mergey M, Capeau J, Soubrane O, Housset C.
    Hepatology; 1999 Jun 06; 29(6):1624-34. PubMed ID: 10347100
    [Abstract] [Full Text] [Related]

  • 7. CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine.
    Kolbe EW, Tamm S, Hedtfeld S, Becker T, Tümmler B, Stanke F.
    Eur J Hum Genet; 2013 Jun 06; 21(6):691-4. PubMed ID: 23073314
    [Abstract] [Full Text] [Related]

  • 8. Genetic deletion of keratin 8 corrects the altered bone formation and osteopenia in a mouse model of cystic fibrosis.
    Le Henaff C, Faria Da Cunha M, Hatton A, Tondelier D, Marty C, Collet C, Zarka M, Geoffroy V, Zatloukal K, Laplantine E, Edelman A, Sermet-Gaudelus I, Marie PJ.
    Hum Mol Genet; 2016 Apr 01; 25(7):1281-93. PubMed ID: 26769674
    [Abstract] [Full Text] [Related]

  • 9. Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium.
    Bronsveld I, Mekus F, Bijman J, Ballmann M, Greipel J, Hundrieser J, Halley DJ, Laabs U, Busche R, De Jonge HR, Tümmler B, Veeze HJ.
    Gastroenterology; 2000 Jul 01; 119(1):32-40. PubMed ID: 10889152
    [Abstract] [Full Text] [Related]

  • 10. Induction of a cAMP-stimulated chloride secretion in regenerating poorly differentiated airway epithelial cells by adenovirus-mediated CFTR gene transfer.
    Dupuit F, Chinet T, Zahm JM, Pierrot D, Hinnrasky J, Kaplan H, Bonnet N, Puchelle E.
    Hum Gene Ther; 1997 Aug 10; 8(12):1439-50. PubMed ID: 9287144
    [Abstract] [Full Text] [Related]

  • 11. Correction of chloride transport and mislocalization of CFTR protein by vardenafil in the gastrointestinal tract of cystic fibrosis mice.
    Dhooghe B, Noël S, Bouzin C, Behets-Wydemans G, Leal T.
    PLoS One; 2013 Aug 10; 8(10):e77314. PubMed ID: 24204804
    [Abstract] [Full Text] [Related]

  • 12. Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.
    Schippa S, Iebba V, Santangelo F, Gagliardi A, De Biase RV, Stamato A, Bertasi S, Lucarelli M, Conte MP, Quattrucci S.
    PLoS One; 2013 Aug 10; 8(4):e61176. PubMed ID: 23613805
    [Abstract] [Full Text] [Related]

  • 13. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809.
    Van Goor F, Hadida S, Grootenhuis PD, Burton B, Stack JH, Straley KS, Decker CJ, Miller M, McCartney J, Olson ER, Wine JJ, Frizzell RA, Ashlock M, Negulescu PA.
    Proc Natl Acad Sci U S A; 2011 Nov 15; 108(46):18843-8. PubMed ID: 21976485
    [Abstract] [Full Text] [Related]

  • 14. Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6.
    Stanke F, Becker T, Hedtfeld S, Tamm S, Wienker TF, Tümmler B.
    Hum Genet; 2010 Apr 15; 127(4):383-94. PubMed ID: 20047061
    [Abstract] [Full Text] [Related]

  • 15. Association of IVS6A GATT polymorphism of CFTR gene with cystic fibrosis: first study in CF and normal Tunisian population.
    Chaima S, Sondess HF, Khedija B, Ahmed M, Taieb M.
    Ann Biol Clin (Paris); 2020 Jun 01; 78(3):314-318. PubMed ID: 32540817
    [Abstract] [Full Text] [Related]

  • 16. Rescue of murine F508del CFTR activity in native intestine by low temperature and proteasome inhibitors.
    Wilke M, Bot A, Jorna H, Scholte BJ, de Jonge HR.
    PLoS One; 2012 Jun 01; 7(12):e52070. PubMed ID: 23284872
    [Abstract] [Full Text] [Related]

  • 17. Osteoclastogenesis and sphingosine-1-phosphate secretion from human osteoclast precursor monocytes are modulated by the cystic fibrosis transmembrane conductance regulator.
    Jourdain ML, Sergheraert J, Braux J, Guillaume C, Gangloff SC, Hubert D, Velard F, Jacquot J.
    Biochim Biophys Acta Mol Basis Dis; 2021 Mar 01; 1867(3):166010. PubMed ID: 33188942
    [Abstract] [Full Text] [Related]

  • 18. Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.
    Stanke F, Davenport C, Hedtfeld S, Tümmler B.
    Eur J Hum Genet; 2010 May 01; 18(5):553-9. PubMed ID: 20051989
    [Abstract] [Full Text] [Related]

  • 19. ORKAMBI-Mediated Rescue of Mucociliary Clearance in Cystic Fibrosis Primary Respiratory Cultures Is Enhanced by Arginine Uptake, Arginase Inhibition, and Promotion of Nitric Oxide Signaling to the Cystic Fibrosis Transmembrane Conductance Regulator Channel.
    Wu YS, Jiang J, Ahmadi S, Lew A, Laselva O, Xia S, Bartlett C, Ip W, Wellhauser L, Ouyang H, Gonska T, Moraes TJ, Bear CE.
    Mol Pharmacol; 2019 Oct 01; 96(4):515-525. PubMed ID: 31427400
    [Abstract] [Full Text] [Related]

  • 20. Control of the proinflammatory state in cystic fibrosis lung epithelial cells by genes from the TNF-alphaR/NFkappaB pathway.
    Eidelman O, Srivastava M, Zhang J, Leighton X, Murtie J, Jozwik C, Jacobson K, Weinstein DL, Metcalf EL, Pollard HB.
    Mol Med; 2001 Aug 01; 7(8):523-34. PubMed ID: 11591888
    [Abstract] [Full Text] [Related]

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