메뉴 건너뛰기




Volumn 58, Issue 5, 2013, Pages 298-303

Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis

Author keywords

CFTR; cystic fibrosis; Koreans; mutation; nontuberculous mycobacteria

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 84878569233     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.19     Document Type: Article
Times cited : (22)

References (29)
  • 2
    • 77952374187 scopus 로고    scopus 로고
    • Pulmonary non-tuberculous mycobacterial infections
    • Daley, C. L. & Griffith, D. E. Pulmonary non-tuberculous mycobacterial infections. Int. J. Tuberc. Lung Dis. 14, 665-671 (2010).
    • (2010) Int. J. Tuberc. Lung Dis , vol.14 , pp. 665-671
    • Daley, C.L.1    Griffith, D.E.2
  • 6
    • 84866438316 scopus 로고    scopus 로고
    • Clinical significance of the differentiation between Mycobacterium avium and Mycobacterium intracellulare in M. avium complex lung disease
    • Koh, W. J., Jeong, B. H., Jeon, K., Lee, N. Y., Lee, K. S., Woo, S. Y. et al. Clinical significance of the differentiation between Mycobacterium avium and Mycobacterium intracellulare in M. avium complex lung disease. Chest 142, 1482-1488 (2012).
    • (2012) Chest , vol.142 , pp. 1482-1488
    • Koh, W.J.1    Jeong, B.H.2    Jeon, K.3    Lee, N.Y.4    Lee, K.S.5    Woo, S.Y.6
  • 7
    • 79951837354 scopus 로고    scopus 로고
    • Clinical and microbiologic outcomes in patients receiving treatment for Mycobacterium abscessus pulmonary disease
    • Jarand, J., Levin, A., Zhang, L., Huitt, G., Mitchell, J. D. & Daley, C. L. Clinical and microbiologic outcomes in patients receiving treatment for Mycobacterium abscessus pulmonary disease. Clin. Infect. Dis. 52, 565-571 (2011).
    • (2011) Clin. Infect. Dis , vol.52 , pp. 565-571
    • Jarand, J.1    Levin, A.2    Zhang, L.3    Huitt, G.4    Mitchell, J.D.5    Daley, C.L.6
  • 8
    • 79551545950 scopus 로고    scopus 로고
    • Clinical significance of differentiation of Mycobacterium massiliense from Mycobacterium abscessus
    • Koh, W. J., Jeon, K., Lee, N. Y., Kim, B. J., Kook, Y. H., Lee, S. H. et al. Clinical significance of differentiation of Mycobacterium massiliense from Mycobacterium abscessus. Am. J. Respir. Crit. Care Med. 183, 405-410 (2011).
    • (2011) Am. J. Respir. Crit. Care Med , vol.183 , pp. 405-410
    • Koh, W.J.1    Jeon, K.2    Lee, N.Y.3    Kim, B.J.4    Kook, Y.H.5    Lee, S.H.6
  • 9
    • 0036126527 scopus 로고    scopus 로고
    • Host susceptibility factors in mycobacterial infection. Genetics and body morphotype
    • Guide, S. V. & Holland, S. M. Host susceptibility factors in mycobacterial infection. Genetics and body morphotype. Infect. Dis. Clin. North Am. 16, 163-186 (2002).
    • (2002) Infect. Dis. Clin. North Am , vol.16 , pp. 163-186
    • Guide, S.V.1    Holland, S.M.2
  • 10
    • 49649083344 scopus 로고    scopus 로고
    • Susceptibility to nontuberculous mycobacterial lung disease
    • Sexton, P. & Harrison, A. C. Susceptibility to nontuberculous mycobacterial lung disease. Eur. Respir. J. 31, 1322-1333 (2008).
    • (2008) Eur. Respir. J , vol.31 , pp. 1322-1333
    • Sexton, P.1    Harrison, A.C.2
  • 11
    • 57349187991 scopus 로고    scopus 로고
    • Pulmonary nontuberculous mycobacterial disease: Prospective study of a distinct preexisting syndrome
    • Kim, R. D., Greenberg, D. E., Ehrmantraut, M. E., Guide, S. V., Ding, L., Shea, Y. et al. Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome. Am. J. Respir. Crit. Care Med. 178, 1066-1074 (2008).
    • (2008) Am. J. Respir. Crit. Care Med , vol.178 , pp. 1066-1074
    • Kim, R.D.1    Greenberg, D.E.2    Ehrmantraut, M.E.3    Guide, S.V.4    Ding, L.5    Shea, Y.6
  • 15
    • 33750057649 scopus 로고    scopus 로고
    • Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection
    • Ziedalski, T. M., Kao, P. N., Henig, N. R., Jacobs, S. S. & Ruoss, S. J. Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection. Chest 130, 995-1002 (2006).
    • (2006) Chest , vol.130 , pp. 995-1002
    • Ziedalski, T.M.1    Kao, P.N.2    Henig, N.R.3    Jacobs, S.S.4    Ruoss, S.J.5
  • 17
    • 79961093135 scopus 로고    scopus 로고
    • Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis
    • Jung, H., Ki, C. S., Koh, W. J., Ahn, K. M., Lee, S. I., Kim, J. H. et al. Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis. Korean J. Lab. Med. 31, 219-224 (2011).
    • (2011) Korean J. Lab. Med , vol.31 , pp. 219-224
    • Jung, H.1    Ki, C.S.2    Koh, W.J.3    Ahn, K.M.4    Lee, S.I.5    Kim, J.H.6
  • 18
    • 34447324095 scopus 로고    scopus 로고
    • Pulmonary Mycobacterium avium complex infection associated with the IVS8-T5 allele of the CFTR gene
    • Mai, H. N., Hijikata, M., Inoue, Y., Suzuki, K., Sakatani, M., Okada, M. et al. Pulmonary Mycobacterium avium complex infection associated with the IVS8-T5 allele of the CFTR gene. Int. J. Tuberc. Lung Dis. 11, 808-813 (2007).
    • (2007) Int. J. Tuberc. Lung Dis , vol.11 , pp. 808-813
    • Mai, H.N.1    Hijikata, M.2    Inoue, Y.3    Suzuki, K.4    Sakatani, M.5    Okada, M.6
  • 19
    • 15944361891 scopus 로고    scopus 로고
    • Bilateral bronchiectasis and bronchiolitis at thin-section CT: Diagnostic implications in nontuberculous mycobacterial pulmonary infection
    • Koh, W. J., Lee, K. S., Kwon, O. J., Jeong, Y. J., Kwak, S. H. & Kim, T. S. Bilateral bronchiectasis and bronchiolitis at thin-section CT: diagnostic implications in nontuberculous mycobacterial pulmonary infection. Radiology 235, 282-288 (2005).
    • (2005) Radiology , vol.235 , pp. 282-288
    • Koh, W.J.1    Lee, K.S.2    Kwon, O.J.3    Jeong, Y.J.4    Kwak, S.H.5    Kim, T.S.6
  • 20
    • 54049110472 scopus 로고    scopus 로고
    • High-resolution CT findings of Mycobacterium avium-intracellulare complex pulmonary disease: Correlation with pulmonary function test results
    • Song, J. W., Koh, W. J., Lee, K. S., Lee, J. Y., Chung, M. J., Kim, T. S. et al. High-resolution CT findings of Mycobacterium avium-intracellulare complex pulmonary disease: correlation with pulmonary function test results. AJR Am. J. Roentgenol. 191, 1070 (2008).
    • (2008) AJR Am. J. Roentgenol , vol.191 , pp. 1070
    • Song, J.W.1    Koh, W.J.2    Lee, K.S.3    Lee, J.Y.4    Chung, M.J.5    Kim, T.S.6
  • 21
    • 0026689178 scopus 로고
    • Performing the exact test of Hardy-Weinberg proportion for multiple alleles
    • Guo, S. W. & Thompson, E. A. Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48, 361-372 (1992).
    • (1992) Biometrics , vol.48 , pp. 361-372
    • Guo, S.W.1    Thompson, E.A.2
  • 23
    • 4644361735 scopus 로고    scopus 로고
    • Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
    • Watson, M. S., Cutting, G. R., Desnick, R. J., Driscoll, D. A., Klinger, K., Mennuti, M. et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Med. 6, 387-391 (2004).
    • (2004) Genet. Med , vol.6 , pp. 387-391
    • Watson, M.S.1    Cutting, G.R.2    Desnick, R.J.3    Driscoll, D.A.4    Klinger, K.5    Mennuti, M.6
  • 24
    • 10744226098 scopus 로고    scopus 로고
    • A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases
    • Lee, J. H., Choi, J. H., Namkung, W., Hanrahan, J. W., Chang, J., Song, S. Y. et al. A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum. Mol. Genet. 12, 2321-2332 (2003).
    • (2003) Hum. Mol. Genet , vol.12 , pp. 2321-2332
    • Lee, J.H.1    Choi, J.H.2    Namkung, W.3    Hanrahan, J.W.4    Chang, J.5    Song, S.Y.6
  • 25
    • 33746196738 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: A pilot study
    • Ngiam, N. S., Chong, S. S., Shek, L. P., Goh, D. L., Ong, K. C., Chng, S. Y. et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study. J. Cyst. Fibros. 5, 159-164 (2006).
    • (2006) J. Cyst. Fibros , vol.5 , pp. 159-164
    • Ngiam, N.S.1    Chong, S.S.2    Shek, L.P.3    Goh, D.L.4    Ong, K.C.5    Chng, S.Y.6
  • 26
    • 0037765332 scopus 로고    scopus 로고
    • CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens
    • Anzai, C., Morokawa, N., Okada, H., Kamidono, S., Eto, Y. & Yoshimura, K. CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. J. Cyst. Fibros. 2, 14-18 (2003).
    • (2003) J. Cyst. Fibros , vol.2 , pp. 14-18
    • Anzai, C.1    Morokawa, N.2    Okada, H.3    Kamidono, S.4    Eto, Y.5    Yoshimura, K.6
  • 27
    • 26244432633 scopus 로고    scopus 로고
    • Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis
    • Lee, K. H., Ryu, J. K., Yoon, W. J., Lee, J. K., Kim, Y. T. & Yoon, Y. B.Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. Dig. Dis. Sci. 50, 1852-1856 (2005).
    • (2005) Dig. Dis. Sci , vol.50 , pp. 1852-1856
    • Lee, K.H.1    Ryu, J.K.2    Yoon, W.J.3    Lee, J.K.4    Kim, Y.T.5    Yoon, Y.6
  • 28
    • 0032518518 scopus 로고    scopus 로고
    • Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. the polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
    • Cuppens, H., Lin, W., Jaspers, M., Costes, B., Teng, H., Vankeerberghen, A. et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J. Clin. Invest. 101, 487-496 (1998).
    • (1998) J. Clin. Invest , vol.101 , pp. 487-496
    • Cuppens, H.1    Lin, W.2    Jaspers, M.3    Costes, B.4    Teng, H.5    Vankeerberghen, A.6
  • 29
    • 0028178617 scopus 로고
    • Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Ghanem, N., Costes, B., Girodon, E., Martin, J., Fanen, P. & Goossens, M. Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 21, 434-436 (1994).
    • (1994) Genomics , vol.21 , pp. 434-436
    • Ghanem, N.1    Costes, B.2    Girodon, E.3    Martin, J.4    Fanen, P.5    Goossens, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.