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Volumn 4 APR, Issue , 2013, Pages

Genetic influences on cystic fibrosis lung disease severity

Author keywords

Genotype; Phenotype; Polymorphism

Indexed keywords

AURORA A KINASE; CEREBELLIN LIKE 4; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; MANNOSE BINDING LECTIN; MELANOCORTIN 3 RECEPTOR; UNCLASSIFIED DRUG;

EID: 84881489944     PISSN: None     EISSN: 16639812     Source Type: Journal    
DOI: 10.3389/fphar.2013.00040     Document Type: Review
Times cited : (51)

References (148)
  • 1
    • 0037238549 scopus 로고    scopus 로고
    • Differences in resting energy expenditure between male and female children with cystic fibrosis
    • Allen, J. R., McCauley, J. C., Selby, A. M., Waters, D. L., Gruca, M. A., Baur, L. A., et al. (2003). Differences in resting energy expenditure between male and female children with cystic fibrosis. J. Pediatr. 142, 15-19.
    • (2003) J. Pediatr. , vol.142 , pp. 15-19
    • Allen, J.R.1    McCauley, J.C.2    Selby, A.M.3    Waters, D.L.4    Gruca, M.A.5    Baur, L.A.6
  • 2
    • 0034102868 scopus 로고    scopus 로고
    • TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis
    • Arkwright, P. D., Laurie, S., Super, M., Pravica, V., Schwarz, M. J., Webb, A. K., et al. (2000). TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis. Thorax 55, 459-462.
    • (2000) Thorax , vol.55 , pp. 459-462
    • Arkwright, P.D.1    Laurie, S.2    Super, M.3    Pravica, V.4    Schwarz, M.J.5    Webb, A.K.6
  • 3
    • 0037323317 scopus 로고    scopus 로고
    • End-organ dysfunction in cystic fibrosis: association with angiotensin I converting enzyme and cytokine gene polymorphisms
    • Arkwright, P. D., Pravica, V., Geraghty, P. J., Super, M., Webb, A. K., Schwarz, M., et al. (2003). End-organ dysfunction in cystic fibrosis: association with angiotensin I converting enzyme and cytokine gene polymorphisms. Am. J. Respir. Crit. Care Med. 167, 384-389.
    • (2003) Am. J. Respir. Crit. Care Med. , vol.167 , pp. 384-389
    • Arkwright, P.D.1    Pravica, V.2    Geraghty, P.J.3    Super, M.4    Webb, A.K.5    Schwarz, M.6
  • 5
    • 13344283412 scopus 로고    scopus 로고
    • Proportion of the GSTM1 0/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases
    • Baranov, V. S., Ivaschenko, T., Bakay, B., Aseev, M., Belotserkovskaya, R., Baranova, H., et al. (1996). Proportion of the GSTM1 0/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases. Hum. Genet. 97, 516-520.
    • (1996) Hum. Genet. , vol.97 , pp. 516-520
    • Baranov, V.S.1    Ivaschenko, T.2    Bakay, B.3    Aseev, M.4    Belotserkovskaya, R.5    Baranova, H.6
  • 6
    • 84857433891 scopus 로고    scopus 로고
    • Association between socioeconomic status, sex, and age at death from cystic fibrosis in England and Wales (1959 to 2008): cross sectional study
    • Barr, H. L., Britton, J., Smyth, A. R., and Fogarty, A. W. (2011). Association between socioeconomic status, sex, and age at death from cystic fibrosis in England and Wales (1959 to 2008): cross sectional study. BMJ 343, d4662.
    • (2011) BMJ , vol.343
    • Barr, H.L.1    Britton, J.2    Smyth, A.R.3    Fogarty, A.W.4
  • 8
    • 1242306647 scopus 로고    scopus 로고
    • The role of transforming growth factor beta in lung development and disease
    • Bartram, U., and Speer, C. P. (2004). The role of transforming growth factor beta in lung development and disease. Chest 125, 754-765.
    • (2004) Chest , vol.125 , pp. 754-765
    • Bartram, U.1    Speer, C.P.2
  • 9
    • 0026532895 scopus 로고
    • Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)
    • Bear, C. E., Li, C. H., Kartner, N., Bridges, R. J., Jensen, T. J., Ramjeesingh, M., et al. (1992). Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell 68, 809-818.
    • (1992) Cell , vol.68 , pp. 809-818
    • Bear, C.E.1    Li, C.H.2    Kartner, N.3    Bridges, R.J.4    Jensen, T.J.5    Ramjeesingh, M.6
  • 10
    • 84864464525 scopus 로고    scopus 로고
    • AGER-429T/C is associated with an increased lung disease severity in cystic fibrosis
    • doi:10.1371/journal.pone.0041913
    • Beucher, J., Boelle, P. Y., Busson, P. F., Muselet-Charlier, C., Clement, A., Corvol, H., et al. (2012). AGER-429T/C is associated with an increased lung disease severity in cystic fibrosis. PLoS ONE 7:e41913. doi:10.1371/journal.pone.0041913
    • (2012) PLoS ONE , vol.7
    • Beucher, J.1    Boelle, P.Y.2    Busson, P.F.3    Muselet-Charlier, C.4    Clement, A.5    Corvol, H.6
  • 11
    • 26444608635 scopus 로고    scopus 로고
    • CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
    • doi:10.1186/1471-2350-5-26
    • Blaisdell, C. J., Howard, T. D., Stern, A., Bamford, P., Bleecker, E. R., and Stine, O. C. (2004). CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity. BMC Med. Genet. 5:26. doi:10.1186/1471-2350-5-26
    • (2004) BMC Med. Genet. , vol.5 , pp. 26
    • Blaisdell, C.J.1    Howard, T.D.2    Stern, A.3    Bamford, P.4    Bleecker, E.R.5    Stine, O.C.6
  • 13
    • 33846051977 scopus 로고    scopus 로고
    • Strategies for identifying modifier genes in cystic fibrosis
    • Boyle, M. P. (2007). Strategies for identifying modifier genes in cystic fibrosis. Proc. Am. Thorac. Soc. 4, 52-57.
    • (2007) Proc. Am. Thorac. Soc. , vol.4 , pp. 52-57
    • Boyle, M.P.1
  • 15
    • 46349104684 scopus 로고    scopus 로고
    • Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis
    • Bremer, L. A., Blackman, S. M., Vanscoy, L. L., McDougal, K. E., Bowers, A., Naughton, K. M., et al. (2008). Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Hum. Mol. Genet. 17, 2228-2237.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 2228-2237
    • Bremer, L.A.1    Blackman, S.M.2    Vanscoy, L.L.3    McDougal, K.E.4    Bowers, A.5    Naughton, K.M.6
  • 17
    • 21044433727 scopus 로고    scopus 로고
    • Influence of interleukin-10 on Aspergillus fumigatus infection in patients with cystic fibrosis
    • Brouard, J., Knauer, N., Boelle, P. Y., Corvol, H., Henrion-Caude, A., Flamant, C., et al. (2005). Influence of interleukin-10 on Aspergillus fumigatus infection in patients with cystic fibrosis. J. Infect. Dis. 191, 1988-1991.
    • (2005) J. Infect. Dis. , vol.191 , pp. 1988-1991
    • Brouard, J.1    Knauer, N.2    Boelle, P.Y.3    Corvol, H.4    Henrion-Caude, A.5    Flamant, C.6
  • 18
    • 34147103990 scopus 로고    scopus 로고
    • Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis
    • Buranawuti, K., Boyle, M. P., Cheng, S., Steiner, L. L., McDougal, K., Fallin, M. D., et al. (2007). Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis. J. Med. Genet. 44, 209-214.
    • (2007) J. Med. Genet. , vol.44 , pp. 209-214
    • Buranawuti, K.1    Boyle, M.P.2    Cheng, S.3    Steiner, L.L.4    McDougal, K.5    Fallin, M.D.6
  • 20
    • 13544273186 scopus 로고    scopus 로고
    • Deficiency of the mannan-binding lectin pathway of complement and poor outcome in cystic fibrosis: bacterial colonization may be decisive for a relationship
    • Carlsson, M., Sjoholm, A. G., Eriksson, L., Thiel, S., Jensenius, J. C., Segelmark, M., et al. (2005). Deficiency of the mannan-binding lectin pathway of complement and poor outcome in cystic fibrosis: bacterial colonization may be decisive for a relationship. Clin. Exp. Immunol. 139, 306-313.
    • (2005) Clin. Exp. Immunol. , vol.139 , pp. 306-313
    • Carlsson, M.1    Sjoholm, A.G.2    Eriksson, L.3    Thiel, S.4    Jensenius, J.C.5    Segelmark, M.6
  • 21
    • 4344689086 scopus 로고    scopus 로고
    • The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD)
    • Celedon, J. C., Lange, C., Raby, B. A., Litonjua, A. A., Palmer, L. J., DeMeo, D. L., et al. (2004). The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Hum. Mol. Genet. 13, 1649-1656.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1649-1656
    • Celedon, J.C.1    Lange, C.2    Raby, B.A.3    Litonjua, A.A.4    Palmer, L.J.5    DeMeo, D.L.6
  • 22
    • 34247481451 scopus 로고    scopus 로고
    • Suppression of hypoxic cell death by APIP-induced sustained activation of AKT and ERK1/2
    • Cho, D. H., Lee, H. J., Kim, H. J., Hong, S. H., Pyo, J. O., Cho, C., et al. (2007). Suppression of hypoxic cell death by APIP-induced sustained activation of AKT and ERK1/2. Oncogene 26, 2809-2814.
    • (2007) Oncogene , vol.26 , pp. 2809-2814
    • Cho, D.H.1    Lee, H.J.2    Kim, H.J.3    Hong, S.H.4    Pyo, J.O.5    Cho, C.6
  • 23
    • 33644898580 scopus 로고    scopus 로고
    • Association of common haplotypes of surfactant protein A1 and A2 (SFTPA1 and SFTPA2) genes with severity of lung disease in cystic fibrosis
    • Choi, E. H., Ehrmantraut, M., Foster, C. B., Moss, J., and Chanock, S. J. (2006). Association of common haplotypes of surfactant protein A1 and A2 (SFTPA1 and SFTPA2) genes with severity of lung disease in cystic fibrosis. Pediatr. Pulmonol. 41, 255-262.
    • (2006) Pediatr. Pulmonol. , vol.41 , pp. 255-262
    • Choi, E.H.1    Ehrmantraut, M.2    Foster, C.B.3    Moss, J.4    Chanock, S.J.5
  • 24
    • 0031471090 scopus 로고    scopus 로고
    • Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis
    • Corey, M., Edwards, L., Levison, H., and Knowles, M. (1997). Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis. J. Pediatr. 131, 809-814.
    • (1997) J. Pediatr. , vol.131 , pp. 809-814
    • Corey, M.1    Edwards, L.2    Levison, H.3    Knowles, M.4
  • 25
    • 0029924585 scopus 로고    scopus 로고
    • Determinants of mortality from cystic fibrosis in Canada, 1970-1989
    • Corey, M., and Farewell, V. (1996). Determinants of mortality from cystic fibrosis in Canada, 1970-1989. Am. J. Epidemiol. 143, 1007-1017.
    • (1996) Am. J. Epidemiol. , vol.143 , pp. 1007-1017
    • Corey, M.1    Farewell, V.2
  • 27
    • 56849132646 scopus 로고    scopus 로고
    • Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis
    • Corvol, H., Boelle, P. Y., Brouard, J., Knauer, N., Chadelat, K., Henrion-Caude, A., et al. (2008). Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis. Pediatr. Pulmonol. 43, 1224-1232.
    • (2008) Pediatr. Pulmonol. , vol.43 , pp. 1224-1232
    • Corvol, H.1    Boelle, P.Y.2    Brouard, J.3    Knauer, N.4    Chadelat, K.5    Henrion-Caude, A.6
  • 28
    • 33744499695 scopus 로고    scopus 로고
    • Association of improved pulmonary phenotype in Irish cystic fibrosis patients with a 3′ enhancer polymorphism in alpha-1-antitrypsin
    • Courtney, J. M., Plant, B. J., Morgan, K., Rendall, J., Gallagher, C., Ennis, M., et al. (2006). Association of improved pulmonary phenotype in Irish cystic fibrosis patients with a 3′ enhancer polymorphism in alpha-1-antitrypsin. Pediatr. Pulmonol. 41, 584-591.
    • (2006) Pediatr. Pulmonol. , vol.41 , pp. 584-591
    • Courtney, J.M.1    Plant, B.J.2    Morgan, K.3    Rendall, J.4    Gallagher, C.5    Ennis, M.6
  • 29
    • 79953145166 scopus 로고    scopus 로고
    • A polymorphism in the 5′ UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients
    • Crovella, S., Segat, L., Amato, A., Athanasakis, E., Bezzerri, V., Braggion, C., et al. (2011). A polymorphism in the 5′ UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients. Clin. Chem. Lab. Med. 49, 49-54.
    • (2011) Clin. Chem. Lab. Med. , vol.49 , pp. 49-54
    • Crovella, S.1    Segat, L.2    Amato, A.3    Athanasakis, E.4    Bezzerri, V.5    Braggion, C.6
  • 30
    • 78650404224 scopus 로고    scopus 로고
    • Modifier genes in Mendelian disorders: the example of cystic fibrosis
    • Cutting, G. R. (2010). Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann. N. Y. Acad. Sci. 1214, 57-69.
    • (2010) Ann. N. Y. Acad. Sci. , vol.1214 , pp. 57-69
    • Cutting, G.R.1
  • 31
    • 77953647401 scopus 로고    scopus 로고
    • Cystic Fibrosis Foundation Patient Registry. Bethesda: Cystic Fibrosis Foundation
    • Cystic Fibrosis Foundation Patient Registry. (2009). 2008 Annual Data Report, Bethesda: Cystic Fibrosis Foundation.
    • (2009) 2008 Annual Data Report
  • 32
    • 77949677739 scopus 로고    scopus 로고
    • EDNRA variants associate with smooth muscle mRNA levels cell proliferation rates, and cystic fibrosis pulmonary disease severity
    • Darrah, R., McKone, E., O'Connor, C., Rodgers, C., Genatossio, A., McNamara, S., et al. (2010). EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity. Physiol. Genomics 41, 71-77.
    • (2010) Physiol. Genomics , vol.41 , pp. 7177
    • Darrah, R.1    McKone, E.2    O'Connor, C.3    Rodgers, C.4    Genatossio, A.5    McNamara, S.6
  • 34
    • 8644255090 scopus 로고    scopus 로고
    • Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles
    • Davies, J. C., Turner, M. W., and Klein, N. (2004). Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles. Eur. Respir. J. 24, 798-804.
    • (2004) Eur. Respir. J. , vol.24 , pp. 798-804
    • Davies, J.C.1    Turner, M.W.2    Klein, N.3
  • 35
    • 0033086408 scopus 로고    scopus 로고
    • The gender gap in cystic fibrosis survival
    • Davis, P. B. (1999). The gender gap in cystic fibrosis survival. J. Gend. Specif. Med. 2, 47-51.
    • (1999) J. Gend. Specif. Med. , vol.2 , pp. 47-51
    • Davis, P.B.1
  • 37
    • 19944433078 scopus 로고    scopus 로고
    • Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis
    • De Rose, V., Arduino, C., Cappello, N., Piana, R., Salmin, P., Bardessono, M., et al. (2005). Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. Eur. J. Hum. Genet. 13, 96-101.
    • (2005) Eur. J. Hum. Genet. , vol.13 , pp. 96-101
    • De Rose, V.1    Arduino, C.2    Cappello, N.3    Piana, R.4    Salmin, P.5    Bardessono, M.6
  • 38
    • 0029016495 scopus 로고
    • Gender differences in cystic fibrosis: Pseudomonas aeruginosa infection
    • Demko, C. A., Byard, P. J., and Davis, P. B. (1995). Gender differences in cystic fibrosis: Pseudomonas aeruginosa infection. J. Clin. Epidemiol. 48, 1041-1049.
    • (1995) J. Clin. Epidemiol. , vol.48 , pp. 1041-1049
    • Demko, C.A.1    Byard, P.J.2    Davis, P.B.3
  • 39
    • 33748146503 scopus 로고    scopus 로고
    • CFTR regulates phagosome acidification in macrophages and alters bactericidal activity
    • Di, A., Brown, M. E., Deriy, L. V., Li, C., Szeto, F. L., Chen, Y., et al. (2006). CFTR regulates phagosome acidification in macrophages and alters bactericidal activity. Nat. Cell Biol. 8, 933-944.
    • (2006) Nat. Cell Biol. , vol.8 , pp. 933-944
    • Di, A.1    Brown, M.E.2    Deriy, L.V.3    Li, C.4    Szeto, F.L.5    Chen, Y.6
  • 41
    • 68249094323 scopus 로고    scopus 로고
    • Lack of CFTR in skeletal muscle predisposes to muscle wasting and diaphragm muscle pump failure in cystic fibrosis mice
    • doi:10.1371/journal.pgen.1000586
    • Divangahi, M., Balghi, H., Danialou, G., Comtois, A. S., Demoule, A., Ernest, S., et al. (2009). Lack of CFTR in skeletal muscle predisposes to muscle wasting and diaphragm muscle pump failure in cystic fibrosis mice. PLoS Genet. 5:e1000586. doi:10.1371/journal.pgen.1000586
    • (2009) PLoS Genet , vol.5
    • Divangahi, M.1    Balghi, H.2    Danialou, G.3    Comtois, A.S.4    Demoule, A.5    Ernest, S.6
  • 42
    • 0029010464 scopus 로고
    • Activation of CFTR chloride current by nitric oxide in human T lymphocytes.
    • Dong, Y. J., Chao, A. C., Kouyama, K., Hsu, Y. P., Bocian, R. C., Moss, R. B., et al. (1995). Activation of CFTR chloride current by nitric oxide in human T lymphocytes. EMBO J. 14, 2700-2707.
    • (1995) EMBO J , vol.14 , pp. 2700-2707
    • Dong, Y.J.1    Chao, A.C.2    Kouyama, K.3    Hsu, Y.P.4    Bocian, R.C.5    Moss, R.B.6
  • 43
    • 40549083327 scopus 로고    scopus 로고
    • Complex two-gene modulation of lung disease severity in children with cystic fibrosis
    • Dorfman, R., Sandford, A., Taylor, C., Huang, B., Frangolias, D., Wang, Y., et al. (2008). Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J. Clin. Invest. 118, 1040-1049.
    • (2008) J. Clin. Invest. , vol.118 , pp. 1040-1049
    • Dorfman, R.1    Sandford, A.2    Taylor, C.3    Huang, B.4    Frangolias, D.5    Wang, Y.6
  • 44
    • 79952748854 scopus 로고    scopus 로고
    • Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis
    • Dorfman, R., Taylor, C., Lin, F., Sun, L., Sandford, A., Pare, P., et al. (2011). Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis. Pediatr. Pulmonol. 46, 385-392.
    • (2011) Pediatr. Pulmonol. , vol.46 , pp. 385-392
    • Dorfman, R.1    Taylor, C.2    Lin, F.3    Sun, L.4    Sandford, A.5    Pare, P.6
  • 45
    • 0028473632 scopus 로고
    • Allotypes of alpha 1-antitrypsin in patients with cystic fibrosis, homozygous and heterozygous for deltaF508
    • Doring, G., Krogh-Johansen, H., Weidinger, S., and Hoiby, N. (1994). Allotypes of alpha 1-antitrypsin in patients with cystic fibrosis, homozygous and heterozygous for deltaF508. Pediatr. Pulmonol. 18, 3-7.
    • (1994) Pediatr. Pulmonol. , vol.18 , pp. 3-7
    • Doring, G.1    Krogh-Johansen, H.2    Weidinger, S.3    Hoiby, N.4
  • 47
    • 70349978815 scopus 로고    scopus 로고
    • IFRD1 modulates disease severity in cystic fibrosis through the regulation of neutrophil effector function
    • Ehrnhoefer, D. E. (2009). IFRD1 modulates disease severity in cystic fibrosis through the regulation of neutrophil effector function. Clin. Genet. 76, 148-149.
    • (2009) Clin. Genet. , vol.76 , pp. 148-149
    • Ehrnhoefer, D.E.1
  • 48
    • 0345550400 scopus 로고    scopus 로고
    • Impact of mannose-binding lectin on susceptibility to infectious diseases
    • Eisen, D. P., and Minchinton, R. M. (2003). Impact of mannose-binding lectin on susceptibility to infectious diseases. Clin. Infect. Dis. 37, 1496-1505.
    • (2003) Clin. Infect. Dis. , vol.37 , pp. 1496-1505
    • Eisen, D.P.1    Minchinton, R.M.2
  • 49
    • 84864397328 scopus 로고    scopus 로고
    • Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
    • Emond, M. J., Louie, T., Emerson, J., Zhao, W., Mathias, R. A., Knowles, M. R., et al. (2012). Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat. Genet. 44, 886-889.
    • (2012) Nat. Genet. , vol.44 , pp. 886-889
    • Emond, M.J.1    Louie, T.2    Emerson, J.3    Zhao, W.4    Mathias, R.A.5    Knowles, M.R.6
  • 51
    • 2442591807 scopus 로고    scopus 로고
    • Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis
    • Flamant, C., Henrion-Caude, A., Boelle, P. Y., Bremont, F., Brouard, J., Delaisi, B., et al. (2004). Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis. Pharmacogenetics 14, 295-301.
    • (2004) Pharmacogenetics , vol.14 , pp. 295-301
    • Flamant, C.1    Henrion-Caude, A.2    Boelle, P.Y.3    Bremont, F.4    Brouard, J.5    Delaisi, B.6
  • 52
    • 84865837418 scopus 로고    scopus 로고
    • Are measures of body habitus associated with mortality in cystic fibrosis?
    • Fogarty, A. W., Britton, J., Clayton, A., and Smyth, A. R. (2012). Are measures of body habitus associated with mortality in cystic fibrosis? Chest 142, 712-717.
    • (2012) Chest , vol.142 , pp. 712-717
    • Fogarty, A.W.1    Britton, J.2    Clayton, A.3    Smyth, A.R.4
  • 54
    • 0033619497 scopus 로고    scopus 로고
    • Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study
    • Gabolde, M., Guilloud-Bataille, M., Feingold, J., and Besmond, C. (1999). Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study. BMJ 319, 1166-1167.
    • (1999) BMJ , vol.319 , pp. 1166-1167
    • Gabolde, M.1    Guilloud-Bataille, M.2    Feingold, J.3    Besmond, C.4
  • 55
    • 0035025877 scopus 로고    scopus 로고
    • The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis
    • Gabolde, M., Hubert, D., Guilloud-Bataille, M., Lenaerts, C., Feingold, J., and Besmond, C. (2001). The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis. J. Med. Genet. 38, 310-311.
    • (2001) J. Med. Genet. , vol.38 , pp. 310-311
    • Gabolde, M.1    Hubert, D.2    Guilloud-Bataille, M.3    Lenaerts, C.4    Feingold, J.5    Besmond, C.6
  • 56
    • 0031027651 scopus 로고    scopus 로고
    • Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin
    • Garred, P., Madsen, H. O., Balslev, U., Hofmann, B., Pedersen, C., Gerstoft, J., et al. (1997). Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin. Lancet 349, 236-240.
    • (1997) Lancet , vol.349 , pp. 236-240
    • Garred, P.1    Madsen, H.O.2    Balslev, U.3    Hofmann, B.4    Pedersen, C.5    Gerstoft, J.6
  • 57
    • 0029080297 scopus 로고
    • Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency
    • Garred, P., Madsen, H. O., Hofmann, B., and Svejgaard, A. (1995). Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency. Lancet 346, 941-943.
    • (1995) Lancet , vol.346 , pp. 941-943
    • Garred, P.1    Madsen, H.O.2    Hofmann, B.3    Svejgaard, A.4
  • 58
    • 0032695668 scopus 로고    scopus 로고
    • Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis
    • Garred, P., Pressler, T., Madsen, H. O., Frederiksen, B., Svejgaard, A., Hoiby, N., et al. (1999). Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J. Clin. Invest. 104, 431-437.
    • (1999) J. Clin. Invest. , vol.104 , pp. 431-437
    • Garred, P.1    Pressler, T.2    Madsen, H.O.3    Frederiksen, B.4    Svejgaard, A.5    Hoiby, N.6
  • 59
    • 84875056614 scopus 로고    scopus 로고
    • Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis
    • Gisler, F. M., von Kanel, T., Kraemer, R., Schaller, A., and Gallati, S. (2012). Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis. Eur. J. Hum. Genet. 21, 397-403.
    • (2012) Eur. J. Hum. Genet. , vol.21 , pp. 397-403
    • Gisler, F.M.1    von Kanel, T.2    Kraemer, R.3    Schaller, A.4    Gallati, S.5
  • 60
    • 0034523682 scopus 로고    scopus 로고
    • Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene
    • Grasemann, H., Knauer, N., Buscher, R., Hubner, K., Drazen, J. M., and Ratjen, F. (2000). Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene. Am. J. Respir. Crit. Care Med. 162, 2172-2176.
    • (2000) Am. J. Respir. Crit. Care Med. , vol.162 , pp. 2172-2176
    • Grasemann, H.1    Knauer, N.2    Buscher, R.3    Hubner, K.4    Drazen, J.M.5    Ratjen, F.6
  • 62
    • 0036330873 scopus 로고    scopus 로고
    • Nasal nitric oxide levels in cystic fibrosis patients are associated with a neuronal NO synthase (NOS1) gene polymorphism
    • Grasemann, H., Storm van's Gravesande, K., Gartig, S., Kirsch, M., Buscher, R., Drazen, J. M., et al. (2002). Nasal nitric oxide levels in cystic fibrosis patients are associated with a neuronal NO synthase (NOS1) gene polymorphism. Nitric Oxide 6, 236-241.
    • (2002) Nitric Oxide , vol.6 , pp. 236-241
    • Grasemann, H.1    Storm van's Gravesande, K.2    Gartig, S.3    Kirsch, M.4    Buscher, R.5    Drazen, J.M.6
  • 64
    • 67349211438 scopus 로고    scopus 로고
    • Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease
    • Gu, Y., Harley, I. T., Henderson, L. B., Aronow, B. J., Vietor, I., Huber, L. A., et al. (2009). Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature 458, 1039-1042.
    • (2009) Nature , vol.458 , pp. 1039-1042
    • Gu, Y.1    Harley, I.T.2    Henderson, L.B.3    Aronow, B.J.4    Vietor, I.5    Huber, L.A.6
  • 65
    • 0034744674 scopus 로고    scopus 로고
    • An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis
    • Henry, M. T., Cave, S., Rendall, J., O'Connor, C. M., Morgan, K., FitzGerald, M. X., et al. (2001). An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis. Eur. J. Hum. Genet. 9, 273-278.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 273-278
    • Henry, M.T.1    Cave, S.2    Rendall, J.3    O'Connor, C.M.4    Morgan, K.5    FitzGerald, M.X.6
  • 68
    • 0031678410 scopus 로고    scopus 로고
    • Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis
    • Hull, J., and Thomson, A. H. (1998). Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis. Thorax 53, 1018-1021.
    • (1998) Thorax , vol.53 , pp. 1018-1021
    • Hull, J.1    Thomson, A.H.2
  • 69
    • 0035500661 scopus 로고    scopus 로고
    • Mannose-binding lectin regulates the inflammatory response of human professional phagocytes to Neisseria meningitidis serogroup B
    • Jack, D. L., Read, R. C., Tenner, A. J., Frosch, M., Turner, M. W., and Klein, N. J. (2001). Mannose-binding lectin regulates the inflammatory response of human professional phagocytes to Neisseria meningitidis serogroup B. J. Infect. Dis. 184, 1152-1162.
    • (2001) J. Infect. Dis. , vol.184 , pp. 1152-1162
    • Jack, D.L.1    Read, R.C.2    Tenner, A.J.3    Frosch, M.4    Turner, M.W.5    Klein, N.J.6
  • 70
    • 0025241696 scopus 로고
    • The relation between genotype and phenotype in cystic fibrosis - analysis of the most common mutation (delta F508)
    • Kerem, E., Corey, M., Kerem, B. S., Rommens, J., Markiewicz, D., Levison, H., et al. (1990a). The relation between genotype and phenotype in cystic fibrosis - analysis of the most common mutation (delta F508). N. Engl. J. Med. 323, 1517-1522.
    • (1990) N. Engl. J. Med. , vol.323 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, B.S.3    Rommens, J.4    Markiewicz, D.5    Levison, H.6
  • 71
    • 0025355607 scopus 로고
    • Pulmonary function and clinical course in patients with cystic fibrosis after pulmonary colonization with Pseudomonas aeruginosa
    • Kerem, E., Corey, M., Gold, R., and Levison, H. (1990b). Pulmonary function and clinical course in patients with cystic fibrosis after pulmonary colonization with Pseudomonas aeruginosa. J. Pediatr. 116, 714-719.
    • (1990) J. Pediatr. , vol.116 , pp. 714-719
    • Kerem, E.1    Corey, M.2    Gold, R.3    Levison, H.4
  • 72
    • 3142766369 scopus 로고    scopus 로고
    • Polymorphism of glutathione-S-transferase M1 and P1 genes in patients with cystic fibrosis and chronic respiratory tract diseases
    • Korytina, G. F., Iaibaeva, D. G., and Viktorova, T. V. (2004). Polymorphism of glutathione-S-transferase M1 and P1 genes in patients with cystic fibrosis and chronic respiratory tract diseases. Genetika 40, 401-408.
    • (2004) Genetika , vol.40 , pp. 401-408
    • Korytina, G.F.1    Iaibaeva, D.G.2    Viktorova, T.V.3
  • 73
    • 0027049380 scopus 로고
    • Antisense oligonucleotides to CFTR confer a cystic fibrosis phenotype on B lymphocytes
    • Krauss, R. D., Berta, G., Rado, T. A., and Bubien, J. K. (1992). Antisense oligonucleotides to CFTR confer a cystic fibrosis phenotype on B lymphocytes. Am. J. Physiol. 263, C1147-C1151.
    • (1992) Am. J. Physiol. , vol.263
    • Krauss, R.D.1    Berta, G.2    Rado, T.A.3    Bubien, J.K.4
  • 75
    • 33750214382 scopus 로고    scopus 로고
    • The 8.1 ancestral MHC haplotype is associated with delayed onset of colonization in cystic fibrosis
    • Laki, J., Laki, I., Nemeth, K., Ujhelyi, R., Bede, O., Endreffy, E., et al. (2006). The 8.1 ancestral MHC haplotype is associated with delayed onset of colonization in cystic fibrosis. Int. Immunol. 18, 1585-1590.
    • (2006) Int. Immunol. , vol.18 , pp. 1585-1590
    • Laki, J.1    Laki, I.2    Nemeth, K.3    Ujhelyi, R.4    Bede, O.5    Endreffy, E.6
  • 76
    • 77952899083 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator in human muscle: dysfunction causes abnormal metabolic recovery in exercise
    • Lamhonwah, A. M., Bear, C. E., Huan, L. J., Kim Chiaw, P., Ackerley, C. A., and Tein, I. (2010). Cystic fibrosis transmembrane conductance regulator in human muscle: dysfunction causes abnormal metabolic recovery in exercise. Ann. Neurol. 67, 802-808.
    • (2010) Ann. Neurol. , vol.67 , pp. 802-808
    • Lamhonwah, A.M.1    Bear, C.E.2    Huan, L.J.3    Kim Chiaw, P.4    Ackerley, C.A.5    Tein, I.6
  • 77
    • 0032827782 scopus 로고    scopus 로고
    • The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits
    • Long, A. D., and Langley, C. H. (1999). The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits. Genome Res. 9, 720-731.
    • (1999) Genome Res , vol.9 , pp. 720-731
    • Long, A.D.1    Langley, C.H.2
  • 78
    • 79958274672 scopus 로고    scopus 로고
    • Impact of polymorphism of multidrug resistance-associated protein 1 (ABCC1) gene on the severity of cystic fibrosis
    • Mafficini, A., Ortombina, M., Sermet-Gaudelius, I., Lebecque, P., Leal, T., Iansa, P., et al. (2011). Impact of polymorphism of multidrug resistance-associated protein 1 (ABCC1) gene on the severity of cystic fibrosis. J. Cyst. Fibros. 10, 228-233.
    • (2011) J. Cyst. Fibros. , vol.10 , pp. 228-233
    • Mafficini, A.1    Ortombina, M.2    Sermet-Gaudelius, I.3    Lebecque, P.4    Leal, T.5    Iansa, P.6
  • 79
    • 0035153395 scopus 로고    scopus 로고
    • Association of alpha(1)-antichymotrypsin deficiency with milder lung disease in patients with cystic fibrosis
    • Mahadeva, R., Sharples, L., Ross-Russell, R. I., Webb, A. K., Bilton, D., and Lomas, D. A. (2001). Association of alpha(1)-antichymotrypsin deficiency with milder lung disease in patients with cystic fibrosis. Thorax 56, 53-58.
    • (2001) Thorax , vol.56 , pp. 53-58
    • Mahadeva, R.1    Sharples, L.2    Ross-Russell, R.I.3    Webb, A.K.4    Bilton, D.5    Lomas, D.A.6
  • 81
    • 0031704170 scopus 로고    scopus 로고
    • Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease
    • Mahadeva, R., Stewart, S., Bilton, D., and Lomas, D. A. (1998b). Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease. Thorax 53, 1022-1024.
    • (1998) Thorax , vol.53 , pp. 1022-1024
    • Mahadeva, R.1    Stewart, S.2    Bilton, D.3    Lomas, D.A.4
  • 82
    • 77954407332 scopus 로고    scopus 로고
    • Genomewide association studies and assessment of the risk of disease
    • Manolio, T. A. (2010). Genomewide association studies and assessment of the risk of disease. N. Engl. J. Med. 363, 166-176.
    • (2010) N. Engl. J. Med. , vol.363 , pp. 166-176
    • Manolio, T.A.1
  • 83
    • 0026782073 scopus 로고
    • Human lymphocytes transcribe the cystic fibrosis transmembrane conductance regulator gene and exhibit CF-defective cAMP-regulated chloride current
    • McDonald, T. V., Nghiem, P. T., Gardner, P., and Martens, C. L. (1992). Human lymphocytes transcribe the cystic fibrosis transmembrane conductance regulator gene and exhibit CF-defective cAMP-regulated chloride current. J. Biol. Chem. 267, 3242-3248.
    • (1992) J. Biol. Chem. , vol.267 , pp. 3242-3248
    • McDonald, T.V.1    Nghiem, P.T.2    Gardner, P.3    Martens, C.L.4
  • 84
    • 77952668529 scopus 로고    scopus 로고
    • Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis
    • McDougal, K. E., Green, D. M., Vanscoy, L. L., Fallin, M. D., Grow, M., Cheng, S., et al. (2010). Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis. Eur. J. Hum. Genet. 18, 680-684.
    • (2010) Eur. J. Hum. Genet. , vol.18 , pp. 680-684
    • McDougal, K.E.1    Green, D.M.2    Vanscoy, L.L.3    Fallin, M.D.4    Grow, M.5    Cheng, S.6
  • 86
    • 0034570596 scopus 로고    scopus 로고
    • Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics
    • Mekus, F., Ballmann, M., Bronsveld, I., Bijman, J., Veeze, H., and Tummler, B. (2000). Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res. 3, 277-293.
    • (2000) Twin Res , vol.3 , pp. 277-293
    • Mekus, F.1    Ballmann, M.2    Bronsveld, I.3    Bijman, J.4    Veeze, H.5    Tummler, B.6
  • 87
    • 0036822125 scopus 로고    scopus 로고
    • Analysis of the two common alpha-1-antitrypsin deficiency alleles PiMS and PiMZ as modifiers of Pseudomonas aeruginosa susceptibility in cystic fibrosis
    • Meyer, P., Braun, A., and Roscher, A. A. (2002). Analysis of the two common alpha-1-antitrypsin deficiency alleles PiMS and PiMZ as modifiers of Pseudomonas aeruginosa susceptibility in cystic fibrosis. Clin. Genet. 62, 325-327.
    • (2002) Clin. Genet. , vol.62 , pp. 325-327
    • Meyer, P.1    Braun, A.2    Roscher, A.A.3
  • 88
    • 24144434990 scopus 로고    scopus 로고
    • Diabetes is associated with dramatically decreased survival in female but not male subjects with cystic fibrosis
    • Milla, C. E., Billings, J., and Moran, A. (2005). Diabetes is associated with dramatically decreased survival in female but not male subjects with cystic fibrosis. Diabetes Care 28, 2141-2144.
    • (2005) Diabetes Care , vol.28 , pp. 2141-2144
    • Milla, C.E.1    Billings, J.2    Moran, A.3
  • 89
    • 0034046253 scopus 로고    scopus 로고
    • Cytokine dysregulation in activated cystic fibrosis (CF) peripheral lymphocytes
    • Moss, R. B., Hsu, Y. P., and Olds, L. (2000). Cytokine dysregulation in activated cystic fibrosis (CF) peripheral lymphocytes. Clin. Exp. Immunol. 120, 518-525.
    • (2000) Clin. Exp. Immunol. , vol.120 , pp. 518-525
    • Moss, R.B.1    Hsu, Y.P.2    Olds, L.3
  • 91
    • 33750940959 scopus 로고    scopus 로고
    • The mannan-binding lectin pathway and lung disease in cystic fibrosis - dysfunction of mannan-binding lectin-associated serine protease 2 (MASP-2) may be a major modifier
    • Olesen, H. V., Jensenius, J. C., Steffensen, R., Thiel, S., and Schiotz, P. O. (2006). The mannan-binding lectin pathway and lung disease in cystic fibrosis - dysfunction of mannan-binding lectin-associated serine protease 2 (MASP-2) may be a major modifier. Clin. Immunol. 121, 324-331.
    • (2006) Clin. Immunol. , vol.121 , pp. 324-331
    • Olesen, H.V.1    Jensenius, J.C.2    Steffensen, R.3    Thiel, S.4    Schiotz, P.O.5
  • 92
    • 0242410967 scopus 로고    scopus 로고
    • Differential induction of TGF-beta regulates proinflammatory cytokine production and determines the outcome of lethal and nonlethal Plasmodium yoelii infections
    • Omer, F. M., de Souza, J. B., and Riley, E. M. (2003). Differential induction of TGF-beta regulates proinflammatory cytokine production and determines the outcome of lethal and nonlethal Plasmodium yoelii infections. J. Immunol. 171, 5430-5436.
    • (2003) J. Immunol. , vol.171 , pp. 5430-5436
    • Omer, F.M.1    de Souza, J.B.2    Riley, E.M.3
  • 93
    • 79960648956 scopus 로고    scopus 로고
    • Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection
    • Park, J. E., Yung, R., Stefanowicz, D., Shumansky, K., Akhabir, L., Durie, P. R., et al. (2011). Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection. Genes Immun. 12, 370-377.
    • (2011) Genes Immun , vol.12 , pp. 370-377
    • Park, J.E.1    Yung, R.2    Stefanowicz, D.3    Shumansky, K.4    Akhabir, L.5    Durie, P.R.6
  • 95
    • 74049159449 scopus 로고    scopus 로고
    • Population-based study of cystic fibrosis disease severity and haemochromatosis gene mutations
    • Pratap, U., Quinn, S., Blizzard, L. B., and Reid, D. W. (2010). Population-based study of cystic fibrosis disease severity and haemochromatosis gene mutations. Respirology 15, 141-149.
    • (2010) Respirology , vol.15 , pp. 141-149
    • Pratap, U.1    Quinn, S.2    Blizzard, L.B.3    Reid, D.W.4
  • 96
    • 0035544017 scopus 로고    scopus 로고
    • TGFbeta1 allele association with asthma severity
    • Pulleyn, L. J., Newton, R., Adcock, I. M., and Barnes, P. J. (2001). TGFbeta1 allele association with asthma severity. Hum. Genet. 109, 623-627.
    • (2001) Hum. Genet. , vol.109 , pp. 623-627
    • Pulleyn, L.J.1    Newton, R.2    Adcock, I.M.3    Barnes, P.J.4
  • 98
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
    • Riordan, J. R., Rommens, J. M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z., et al. (1989). Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245, 1066-1073.
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3    Alon, N.4    Rozmahel, R.5    Grzelczak, Z.6
  • 99
    • 27644517708 scopus 로고    scopus 로고
    • Disruption of CFTR chloride channel alters mechanical properties and cAMP-dependent Cl-transport of mouse aortic smooth muscle cells
    • Robert, R., Norez, C., and Becq, F. (2005). Disruption of CFTR chloride channel alters mechanical properties and cAMP-dependent Cl-transport of mouse aortic smooth muscle cells. J. Physiol. (Lond.) 568, 483-495.
    • (2005) J. Physiol. (Lond. ) , vol.568 , pp. 483-495
    • Robert, R.1    Norez, C.2    Becq, F.3
  • 101
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: chromosome walking and jumping
    • Rommens, J. M., Iannuzzi, M. C., Kerem, B., Drumm, M. L., Melmer, G., Dean, M., et al. (1989). Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245, 1059-1065.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1    Iannuzzi, M.C.2    Kerem, B.3    Drumm, M.L.4    Melmer, G.5    Dean, M.6
  • 102
    • 0025007903 scopus 로고
    • Exposure of children with cystic fibrosis to environmental tobacco smoke
    • Rubin, B. K. (1990). Exposure of children with cystic fibrosis to environmental tobacco smoke. N. Engl. J. Med. 323, 782-788.
    • (1990) N. Engl. J. Med. , vol.323 , pp. 782-788
    • Rubin, B.K.1
  • 103
    • 0034987271 scopus 로고    scopus 로고
    • The association of socioeconomic status with outcomes in cystic fibrosis patients in the United States
    • Schechter, M. S., Shelton, B. J., Margolis, P. A., and Fitzsimmons, S. C. (2001). The association of socioeconomic status with outcomes in cystic fibrosis patients in the United States. Am. J. Respir. Crit. Care Med. 163, 1331-1337.
    • (2001) Am. J. Respir. Crit. Care Med. , vol.163 , pp. 1331-1337
    • Schechter, M.S.1    Shelton, B.J.2    Margolis, P.A.3    Fitzsimmons, S.C.4
  • 104
    • 0027092589 scopus 로고
    • Methods for the analysis of informatively censored longitudinal data
    • Schluchter, M. D. (1992). Methods for the analysis of informatively censored longitudinal data. Stat. Med. 11, 1861-1870.
    • (1992) Stat. Med. , vol.11 , pp. 1861-1870
    • Schluchter, M.D.1
  • 105
    • 0037093814 scopus 로고    scopus 로고
    • Jointly modelling the relationship between survival and pulmonary function in cystic fibrosis patients
    • Schluchter, M. D., Konstan, M. W., and Davis, P. B. (2002). Jointly modelling the relationship between survival and pulmonary function in cystic fibrosis patients. Stat. Med. 21, 1271-1287.
    • (2002) Stat. Med. , vol.21 , pp. 1271-1287
    • Schluchter, M.D.1    Konstan, M.W.2    Davis, P.B.3
  • 106
    • 33646000799 scopus 로고    scopus 로고
    • TNF-alpha promoter polymorphism in relation to TNF-alpha production and clinical status in cystic fibrosis
    • Schmitt-Grohe, S., Stuber, F., Book, M., Bargon, J., Wagner, T. O., Naujoks, C., et al. (2006). TNF-alpha promoter polymorphism in relation to TNF-alpha production and clinical status in cystic fibrosis. Lung 184, 99-104.
    • (2006) Lung , vol.184 , pp. 99-104
    • Schmitt-Grohe, S.1    Stuber, F.2    Book, M.3    Bargon, J.4    Wagner, T.O.5    Naujoks, C.6
  • 107
  • 109
    • 33644992341 scopus 로고    scopus 로고
    • The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis
    • Stanke, F., Becker, T., Cuppens, H., Kumar, V., Cassiman, J. J., Jansen, S., et al. (2006). The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. Hum. Genet. 119, 331-343.
    • (2006) Hum. Genet. , vol.119 , pp. 331-343
    • Stanke, F.1    Becker, T.2    Cuppens, H.3    Kumar, V.4    Cassiman, J.J.5    Jansen, S.6
  • 110
    • 77952098113 scopus 로고    scopus 로고
    • 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, T. F., and Tummler, B. (2010). Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6. Hum. Genet. 127, 383-394.
    • (2010) Hum. Genet. , vol.127 , pp. 383-394
    • Stanke, F.1    Becker, T.2    Hedtfeld, S.3    Tamm, S.4    Wienker, T.F.5    Tummler, B.6
  • 111
    • 79955658463 scopus 로고    scopus 로고
    • 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
    • doi:10.1186/1471-2350-12-62
    • Stanke, F., Hedtfeld, S., Becker, T., and Tummler, B. (2011). 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. BMC Med. Genet. 12:62. doi:10.1186/1471-2350-12-62
    • (2011) BMC Med. Genet. , vol.12 , pp. 62
    • Stanke, F.1    Hedtfeld, S.2    Becker, T.3    Tummler, B.4
  • 112
    • 0028118698 scopus 로고
    • Improvement of nutritional status and lung function after long-term nocturnal gastrostomy feedings in cystic fibrosis
    • Steinkamp, G., and von der Hardt, H. (1994). Improvement of nutritional status and lung function after long-term nocturnal gastrostomy feedings in cystic fibrosis. J. Pediatr. 124, 244-249.
    • (1994) J. Pediatr. , vol.124 , pp. 244-249
    • Steinkamp, G.1    von der Hardt, H.2
  • 113
    • 45849099155 scopus 로고    scopus 로고
    • German CysticFibrosis Quality and Assessment Group., German CysticFibrosis Quality and Assessment Group. (2008). From registry to quality management: the German cystic fibrosis quality assessment project 1995 2006
    • Stern, M., Wiedemann, B., Wenzlaff, P.German CysticFibrosis Quality and Assessment Group., German CysticFibrosis Quality and Assessment Group. (2008). From registry to quality management: the German cystic fibrosis quality assessment project 1995 2006. Eur. Respir. J. 31, 29-35.
    • Eur. Respir. J , vol.31 , pp. 29-35
    • Stern, M.1    Wiedemann, B.2    Wenzlaff, P.3
  • 115
    • 0028915759 scopus 로고
    • Mannose binding protein gene mutations associated with unusual and severe infections in adults
    • Summerfield, J. A., Ryder, S., Sumiya, M., Thursz, M., Gorchein, A., Monteil, M. A., et al. (1995). Mannose binding protein gene mutations associated with unusual and severe infections in adults. Lancet 345, 886-889.
    • (1995) Lancet , vol.345 , pp. 886-889
    • Summerfield, J.A.1    Ryder, S.2    Sumiya, M.3    Thursz, M.4    Gorchein, A.5    Monteil, M.A.6
  • 116
    • 0030986151 scopus 로고    scopus 로고
    • Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series
    • Summerfield, J. A., Sumiya, M., Levin, M., and Turner, M. W. (1997). Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series. BMJ 314, 1229-1232.
    • (1997) BMJ , vol.314 , pp. 1229-1232
    • Summerfield, J.A.1    Sumiya, M.2    Levin, M.3    Turner, M.W.4
  • 117
    • 84881531407 scopus 로고    scopus 로고
    • Available at
    • SymAtlas, G. (2008). Available at: http://symatlas.gnf.org.
    • (2008)
    • SymAtlas, G.1
  • 118
    • 79957618689 scopus 로고    scopus 로고
    • A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis genetic modifier studies
    • Taylor, C., Commander, C. W., Collaco, J. M., Strug, L. J., Li, W., Wright, F. A., et al. (2011). A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis genetic modifier studies. Pediatr. Pulmonol. 46, 857-869.
    • (2011) Pediatr. Pulmonol. , vol.46 , pp. 857-869
    • Taylor, C.1    Commander, C.W.2    Collaco, J.M.3    Strug, L.J.4    Li, W.5    Wright, F.A.6
  • 119
    • 40549089583 scopus 로고    scopus 로고
    • The Canadian CF Modifier Gene Project: a nationally representative DNA and phenotype resource
    • Taylor, C., Corey, M., Breaton, J., VanSpall, M., Christofi, M., Frangolias, D., et al. (2006). The Canadian CF Modifier Gene Project: a nationally representative DNA and phenotype resource. Pediatr. Pulmonol. 41, 362.
    • (2006) Pediatr. Pulmonol. , vol.41 , pp. 362
    • Taylor, C.1    Corey, M.2    Breaton, J.3    VanSpall, M.4    Christofi, M.5    Frangolias, D.6
  • 120
    • 59249089989 scopus 로고    scopus 로고
    • Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity
    • doi:10.1371/journal.pone.0004270
    • Taylor-Cousar, J. L., Zariwala, M. A., Burch, L. H., Pace, R. G., Drumm, M. L., Calloway, H., et al. (2009). Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity. PLoS ONE 4:e4270. doi:10.1371/journal.pone.0004270
    • (2009) PLoS ONE , vol.4
    • Taylor-Cousar, J.L.1    Zariwala, M.A.2    Burch, L.H.3    Pace, R.G.4    Drumm, M.L.5    Calloway, H.6
  • 121
    • 38549086390 scopus 로고    scopus 로고
    • Association of beta-defensin-1 gene polymorphisms with Pseudomonas aeruginosa airway colonization in cystic fibrosis
    • Tesse, R., Cardinale, F., Santostasi, T., Polizzi, A., Manca, A., Mappa, L., et al. (2008). Association of beta-defensin-1 gene polymorphisms with Pseudomonas aeruginosa airway colonization in cystic fibrosis. Genes Immun. 9, 57-60.
    • (2008) Genes Immun , vol.9 , pp. 57-60
    • Tesse, R.1    Cardinale, F.2    Santostasi, T.3    Polizzi, A.4    Manca, A.5    Mappa, L.6
  • 122
    • 1242284377 scopus 로고    scopus 로고
    • Nitric oxide synthase 1 as a potential modifier gene of decline in lung function in patients with cystic fibrosis
    • Texereau, J., Marullo, S., Hubert, D., Coste, J., Dusser, D. J., Dall'Ava-Santucci, J., et al. (2004). Nitric oxide synthase 1 as a potential modifier gene of decline in lung function in patients with cystic fibrosis. Thorax 59, 156-158.
    • (2004) Thorax , vol.59 , pp. 156-158
    • Texereau, J.1    Marullo, S.2    Hubert, D.3    Coste, J.4    Dusser, D.J.5    Dall'Ava-Santucci, J.6
  • 123
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • The Cystic Fibrosis Genotype-Phenotype Consortium
    • The Cystic Fibrosis Genotype-Phenotype Consortium. (1993). Correlation between genotype and phenotype in patients with cystic fibrosis. N. Engl. J. Med. 329, 1308-1313.
    • (1993) N. Engl. J. Med. , vol.329 , pp. 1308-1313
  • 124
    • 70349972300 scopus 로고    scopus 로고
    • An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study
    • Tomaiuolo, R., Degiorgio, D., Coviello, D. A., Baccarelli, A., Elce, A., Raia, V., et al. (2009). An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. Dig. Liver Dis. 41, 817-822.
    • (2009) Dig. Liver Dis. , vol.41 , pp. 817-822
    • Tomaiuolo, R.1    Degiorgio, D.2    Coviello, D.A.3    Baccarelli, A.4    Elce, A.5    Raia, V.6
  • 126
    • 1842333889 scopus 로고    scopus 로고
    • Genotype and phenotype in cystic fibrosis
    • Tsui, L. C., and Durie, P. (1997). Genotype and phenotype in cystic fibrosis. Hosp. Pract. (Off. Ed.) 32, 115-118.
    • (1997) Hosp. Pract. (Off. Ed. ) , vol.32 , pp. 115-118
    • Tsui, L.C.1    Durie, P.2
  • 127
    • 0035827691 scopus 로고    scopus 로고
    • The epithelium-specific ETS protein EHF/ESE-3 is a context-dependent transcriptional repressor downstream of MAPK signaling cascades
    • Tugores, A., Le, J., Sorokina, I., Snijders, A. J., Duyao, M., Reddy, P. S., et al. (2001). The epithelium-specific ETS protein EHF/ESE-3 is a context-dependent transcriptional repressor downstream of MAPK signaling cascades. J. Biol. Chem. 276, 20397-20406.
    • (2001) J. Biol. Chem. , vol.276 , pp. 20397-20406
    • Tugores, A.1    Le, J.2    Sorokina, I.3    Snijders, A.J.4    Duyao, M.5    Reddy, P.S.6
  • 130
    • 33748488451 scopus 로고    scopus 로고
    • Evidence that CFTR is expressed in rat tracheal smooth muscle cells and contributes to bronchodilation
    • Vandebrouck, C., Melin, P., Norez, C., Robert, R., Guibert, C., Mettey, Y., et al. (2006). Evidence that CFTR is expressed in rat tracheal smooth muscle cells and contributes to bronchodilation. Respir. Res. 7, 113.
    • (2006) Respir. Res. , vol.7 , pp. 113
    • Vandebrouck, C.1    Melin, P.2    Norez, C.3    Robert, R.4    Guibert, C.5    Mettey, Y.6
  • 131
    • 20144389041 scopus 로고    scopus 로고
    • Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations
    • Vankeerberghen, A., Scudiero, O., De Boeck, K., Macek, M. Jr., Pignatti, P. F., Van Hul, N., et al. (2005). Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Genomics 85, 574-581.
    • (2005) Genomics , vol.85 , pp. 574-581
    • Vankeerberghen, A.1    Scudiero, O.2    De Boeck, K.3    Macek Jr., M.4    Pignatti, P.F.5    Van Hul, N.6
  • 133
    • 27144501047 scopus 로고    scopus 로고
    • Is there still a gender gap in cystic fibrosis?
    • Verma, N., Bush, A., and Buchdahl, R. (2005). Is there still a gender gap in cystic fibrosis? Chest 128, 2824-2834.
    • (2005) Chest , vol.128 , pp. 2824-2834
    • Verma, N.1    Bush, A.2    Buchdahl, R.3
  • 134
    • 38049107224 scopus 로고    scopus 로고
    • ENaCbeta and gamma genes as modifier genes in cystic fibrosis
    • Viel, M., Leroy, C., Hubert, D., Fajac, I., and Bienvenu, T. (2008). ENaCbeta and gamma genes as modifier genes in cystic fibrosis. J. Cyst. Fibros. 7, 23-29.
    • (2008) J. Cyst. Fibros. , vol.7 , pp. 23-29
    • Viel, M.1    Leroy, C.2    Hubert, D.3    Fajac, I.4    Bienvenu, T.5
  • 135
    • 36048980611 scopus 로고    scopus 로고
    • Role of TIS7 family of transcriptional regulators in differentiation and regeneration
    • Vietor, I., and Huber, L. A. (2007). Role of TIS7 family of transcriptional regulators in differentiation and regeneration. Differentiation 75, 891-897.
    • (2007) Differentiation , vol.75 , pp. 891-897
    • Vietor, I.1    Huber, L.A.2
  • 136
    • 18544383626 scopus 로고    scopus 로고
    • TIS7 interacts with the mammalian SIN3 histone deacetylase complex in epithelial cells
    • Vietor, I., Vadivelu, S. K., Wick, N., Hoffman, R., Cotten, M., Seiser, C., et al. (2002). TIS7 interacts with the mammalian SIN3 histone deacetylase complex in epithelial cells. EMBO J. 21, 4621-4631.
    • (2002) EMBO J , vol.21 , pp. 4621-4631
    • Vietor, I.1    Vadivelu, S.K.2    Wick, N.3    Hoffman, R.4    Cotten, M.5    Seiser, C.6
  • 137
    • 0027393417 scopus 로고
    • Involvement of transforming growth factor-beta in the formation of fibrotic lesions in carcinoid heart disease
    • Waltenberger, J., Lundin, L., Oberg, K., Wilander, E., Miyazono, K., Heldin, C. H., et al. (1993). Involvement of transforming growth factor-beta in the formation of fibrotic lesions in carcinoid heart disease. Am. J. Pathol. 142, 71-78.
    • (1993) Am. J. Pathol. , vol.142 , pp. 71-78
    • Waltenberger, J.1    Lundin, L.2    Oberg, K.3    Wilander, E.4    Miyazono, K.5    Heldin, C.H.6
  • 138
    • 0033870680 scopus 로고    scopus 로고
    • Health status and sociodemographic characteristics of adults receiving a cystic fibrosis diagnosis after age 18 years
    • Widerman, E., Millner, L., Sexauer, W., and Fiel, S. (2000). Health status and sociodemographic characteristics of adults receiving a cystic fibrosis diagnosis after age 18 years. Chest 118, 427-433.
    • (2000) Chest , vol.118 , pp. 427-433
    • Widerman, E.1    Millner, L.2    Sexauer, W.3    Fiel, S.4
  • 139
    • 0026906857 scopus 로고
    • Single base polymorphism in the human tumour necrosis factor alpha (TNF alpha) gene detectable by NcoI restriction of PCR product
    • Wilson, A. G., di Giovine, F. S., Blakemore, A. I., and Duff, G. W. (1992). Single base polymorphism in the human tumour necrosis factor alpha (TNF alpha) gene detectable by NcoI restriction of PCR product. Hum. Mol. Genet. 1, 353.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 353
    • Wilson, A.G.1    di Giovine, F.S.2    Blakemore, A.I.3    Duff, G.W.4
  • 140
    • 79957588506 scopus 로고    scopus 로고
    • Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13
    • Wright, F. A., Strug, L. J., Doshi, V. K., Commander, C. W., Blackman, S. M., Sun, L., et al. (2011). Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat. Genet. 43, 539-546.
    • (2011) 2. Nat. Genet. , vol.43 , pp. 539-546
    • Wright, F.A.1    Strug, L.J.2    Doshi, V.K.3    Commander, C.W.4    Blackman, S.M.5    Sun, L.6
  • 141
    • 1242329185 scopus 로고    scopus 로고
    • Transforming growth factor-beta1 genotype and susceptibility to chronic obstructive pulmonary disease
    • Wu, L., Chau, J., Young, R. P., Pokorny, V., Mills, G. D., Hopkins, R., et al. (2004). Transforming growth factor-beta1 genotype and susceptibility to chronic obstructive pulmonary disease. Thorax 59, 126-129.
    • (2004) Thorax , vol.59 , pp. 126-129
    • Wu, L.1    Chau, J.2    Young, R.P.3    Pokorny, V.4    Mills, G.D.5    Hopkins, R.6
  • 142
    • 0027479442 scopus 로고
    • Expression of transforming growth factor beta is elevated in human and experimental diabetic nephropathy
    • Yamamoto, T., Nakamura, T., Noble, N. A., Ruoslahti, E., and Border, W. A. (1993). Expression of transforming growth factor beta is elevated in human and experimental diabetic nephropathy. Proc. Natl. Acad. Sci. U.S.A. 90, 1814-1818.
    • (1993) Proc. Natl. Acad. Sci. U. S. A. , vol.90 , pp. 1814-1818
    • Yamamoto, T.1    Nakamura, T.2    Noble, N.A.3    Ruoslahti, E.4    Border, W.A.5
  • 143
    • 4043052927 scopus 로고    scopus 로고
    • Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype
    • Yarden, J., Radojkovic, D., De Boeck, K., Macek, M. Jr., Zemkova, D., Vavrova, V., et al. (2004). Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype. J. Med. Genet. 41, 629-633.
    • (2004) J. Med. Genet. , vol.41 , pp. 629-633
    • Yarden, J.1    Radojkovic, D.2    De Boeck, K.3    Macek Jr., M.4    Zemkova, D.5    Vavrova, V.6
  • 144
    • 16844367922 scopus 로고    scopus 로고
    • Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype
    • Yarden, J., Radojkovic, D., De Boeck, K., Macek, M. Jr., Zemkova, D., Vavrova, V., et al. (2005). Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype. Thorax 60, 320-325.
    • (2005) Thorax , vol.60 , pp. 320-325
    • Yarden, J.1    Radojkovic, D.2    De Boeck, K.3    Macek Jr., M.4    Zemkova, D.5    Vavrova, V.6
  • 145
    • 0025949558 scopus 로고
    • Expression of the cystic fibrosis transmembrane conductance regulator gene in cells of non-epithelial origin
    • Yoshimura, K., Nakamura, H., Trapnell, B. C., Chu, C. S., Dalemans, W., Pavirani, A., et al. (1991). Expression of the cystic fibrosis transmembrane conductance regulator gene in cells of non-epithelial origin. Nucleic Acids Res. 19, 5417-5423.
    • (1991) Nucleic Acids Res , vol.19 , pp. 5417-5423
    • Yoshimura, K.1    Nakamura, H.2    Trapnell, B.C.3    Chu, C.S.4    Dalemans, W.5    Pavirani, A.6
  • 146
    • 0033827478 scopus 로고    scopus 로고
    • Longitudinal relationship among growth, nutritional status, and pulmonary function in children with cystic fibrosis: analysis of the cystic fibrosis foundation national CF patient registry
    • Zemel, B. S., Jawad, A. F., FitzSimmons, S., and Stallings, V. A. (2000). Longitudinal relationship among growth, nutritional status, and pulmonary function in children with cystic fibrosis: analysis of the cystic fibrosis foundation national CF patient registry. J. Pediatr. 137, 374-380.
    • (2000) J. Pediatr. , vol.137 , pp. 374-380
    • Zemel, B.S.1    Jawad, A.F.2    FitzSimmons, S.3    Stallings, V.A.4
  • 147
    • 0034109607 scopus 로고    scopus 로고
    • Genotype and phenotype in cystic fibrosis
    • Zielenski, J. (2000). Genotype and phenotype in cystic fibrosis. Respiration 67, 117-133.
    • (2000) Respiration , vol.67 , pp. 117-133
    • Zielenski, J.1
  • 148
    • 0033028607 scopus 로고    scopus 로고
    • Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
    • Zielenski, J., Corey, M., Rozmahel, R., Markiewicz, D., Aznarez, I., Casals, T., et al. (1999). Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat. Genet. 22, 128-129.
    • (1999) Nat. Genet. , vol.22 , pp. 128-129
    • Zielenski, J.1    Corey, M.2    Rozmahel, R.3    Markiewicz, D.4    Aznarez, I.5    Casals, T.6


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