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Volumn 5, Issue 3, 2006, Pages 159-164

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: A pilot study

Author keywords

Asians; Asthma; Bronchiectasis; CFTR mutations

Indexed keywords

GLUTAMINE; HISTIDINE; ISOLEUCINE; THREONINE; TRANSMEMBRANE CONDUCTANCE REGULATOR; VALINE;

EID: 33746196738     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2006.02.002     Document Type: Article
Times cited : (24)

References (29)
  • 1
    • 0034816370 scopus 로고    scopus 로고
    • Improved detection of CFTR mutations in Southern California Hispanic CF patients
    • Wong L.J., Wang J., Zhang Y.H., et al. Improved detection of CFTR mutations in Southern California Hispanic CF patients. Hum Mutat 18 (2001) 296-307
    • (2001) Hum Mutat , vol.18 , pp. 296-307
    • Wong, L.J.1    Wang, J.2    Zhang, Y.H.3
  • 2
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
    • Bobadilla J.L., Macek Jr. M., Fine J.P., and Farrell P.M. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 19 (2002) 575-606
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek Jr., M.2    Fine, J.P.3    Farrell, P.M.4
  • 3
    • 0031433107 scopus 로고    scopus 로고
    • High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes
    • Casals T., Ramos M.D., Gimenez J., Larriba S., Nunes V., and Estivill X. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Hum Genet 101 (1997) 365-370
    • (1997) Hum Genet , vol.101 , pp. 365-370
    • Casals, T.1    Ramos, M.D.2    Gimenez, J.3    Larriba, S.4    Nunes, V.5    Estivill, X.6
  • 4
    • 0028858559 scopus 로고
    • Heterozygotes for the delta F508 cystic fibrosis allele are not protected against bronchial asthma
    • Mennie M., Gilfillan A., Brock D.J., and Liston W.A. Heterozygotes for the delta F508 cystic fibrosis allele are not protected against bronchial asthma. Nat Med 1 (1995) 978-979
    • (1995) Nat Med , vol.1 , pp. 978-979
    • Mennie, M.1    Gilfillan, A.2    Brock, D.J.3    Liston, W.A.4
  • 5
    • 0032572187 scopus 로고    scopus 로고
    • DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma
    • Dahl M., Tybjaerg-Hansen A., Lange P., and Nordestgaard B.G. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma. Lancet 351 (1998) 1911-1913
    • (1998) Lancet , vol.351 , pp. 1911-1913
    • Dahl, M.1    Tybjaerg-Hansen, A.2    Lange, P.3    Nordestgaard, B.G.4
  • 6
    • 0029016718 scopus 로고
    • Protection against bronchial asthma by CFTR delta F508 mutation: a heterozygote advantage in cystic fibrosis
    • Schroeder S.A., Gaughan D.M., and Swift M. Protection against bronchial asthma by CFTR delta F508 mutation: a heterozygote advantage in cystic fibrosis. Nat Med 1 (1995) 703-705
    • (1995) Nat Med , vol.1 , pp. 703-705
    • Schroeder, S.A.1    Gaughan, D.M.2    Swift, M.3
  • 7
    • 0028958565 scopus 로고
    • Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
    • Pignatti P.F., Bombieri C., Marigo C., Benetazzo M., and Luisetti M. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet 4 (1995) 635-639
    • (1995) Hum Mol Genet , vol.4 , pp. 635-639
    • Pignatti, P.F.1    Bombieri, C.2    Marigo, C.3    Benetazzo, M.4    Luisetti, M.5
  • 8
    • 0035070082 scopus 로고    scopus 로고
    • CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease
    • Tzetis M., Efthymiadou A., Strofalis S., et al. CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Hum Genet 108 (2001) 216-221
    • (2001) Hum Genet , vol.108 , pp. 216-221
    • Tzetis, M.1    Efthymiadou, A.2    Strofalis, S.3
  • 9
    • 12644300645 scopus 로고    scopus 로고
    • CFTR gene mutations in adults with disseminated bronchiectasis
    • Girodon E., Cazeneuve C., Lebargy F., et al. CFTR gene mutations in adults with disseminated bronchiectasis. Eur J Hum Genet 5 (1997) 149-155
    • (1997) Eur J Hum Genet , vol.5 , pp. 149-155
    • Girodon, E.1    Cazeneuve, C.2    Lebargy, F.3
  • 10
    • 0032435286 scopus 로고    scopus 로고
    • Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
    • Bombieri C., Benetazzo M., Saccomani A., et al. Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum Genet 103 (1998) 718-722
    • (1998) Hum Genet , vol.103 , pp. 718-722
    • Bombieri, C.1    Benetazzo, M.2    Saccomani, A.3
  • 11
    • 2942731805 scopus 로고    scopus 로고
    • Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?
    • Casals T., De-Gracia J., Gallego M., et al. Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?. Clin Genet 65 (2004) 490-495
    • (2004) Clin Genet , vol.65 , pp. 490-495
    • Casals, T.1    De-Gracia, J.2    Gallego, M.3
  • 13
    • 11944263452 scopus 로고    scopus 로고
    • CFTR mutations and polymorphisms in adults with disseminated bronchiectasis: a controversial issue
    • Divac A., Nikolic A., Mitic-Milikic M., et al. CFTR mutations and polymorphisms in adults with disseminated bronchiectasis: a controversial issue. Thorax 60 (2005) 85
    • (2005) Thorax , vol.60 , pp. 85
    • Divac, A.1    Nikolic, A.2    Mitic-Milikic, M.3
  • 14
    • 0035094282 scopus 로고    scopus 로고
    • Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis
    • Marchand E., Verellen-Dumoulin C., Mairesse M., et al. Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis. Chest 119 (2001) 762-767
    • (2001) Chest , vol.119 , pp. 762-767
    • Marchand, E.1    Verellen-Dumoulin, C.2    Mairesse, M.3
  • 15
    • 0028933902 scopus 로고
    • Skipping of exon 12 as a consequence of a point mutation (1898 + 5G→T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family
    • Zielenski J., Markiewicz D., Lin S.P., Huang F.Y., Yang-Feng T.L., and Tsui L.C. Skipping of exon 12 as a consequence of a point mutation (1898 + 5G→T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family. Clin Genet 47 (1995) 125-132
    • (1995) Clin Genet , vol.47 , pp. 125-132
    • Zielenski, J.1    Markiewicz, D.2    Lin, S.P.3    Huang, F.Y.4    Yang-Feng, T.L.5    Tsui, L.C.6
  • 16
    • 0032771314 scopus 로고    scopus 로고
    • Two novel mutations in a cystic fibrosis patient of Chinese origin
    • Wagner J.A., Vassilakis A., Yee K., et al. Two novel mutations in a cystic fibrosis patient of Chinese origin. Hum Genet 104 (1999) 511-515
    • (1999) Hum Genet , vol.104 , pp. 511-515
    • Wagner, J.A.1    Vassilakis, A.2    Yee, K.3
  • 17
    • 0033913365 scopus 로고    scopus 로고
    • Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings
    • Wu C.L., Shu S.G., Zielenski J., Chiang C.D., and Tsui L.C. Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings. J Formos Med Assoc 99 (2000) 564-567
    • (2000) J Formos Med Assoc , vol.99 , pp. 564-567
    • Wu, C.L.1    Shu, S.G.2    Zielenski, J.3    Chiang, C.D.4    Tsui, L.C.5
  • 18
    • 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., and Yoshimura K. CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. J Cyst Fibros 2 (2003) 14-18
    • (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
  • 19
    • 24144491660 scopus 로고    scopus 로고
    • Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens
    • Wu C.C., Alper O.M., Lu J.F., et al. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Hum Reprod 20 (2005) 2470-2475
    • (2005) Hum Reprod , vol.20 , pp. 2470-2475
    • Wu, C.C.1    Alper, O.M.2    Lu, J.F.3
  • 20
    • 0041821985 scopus 로고    scopus 로고
    • Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations
    • Wong L.J., Alper O.M., Wang B.T., Lee M.H., and Lo S.Y. Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations. Am J Med Genet A 120 (2003) 296-298
    • (2003) Am J Med Genet A , vol.120 , pp. 296-298
    • Wong, L.J.1    Alper, O.M.2    Wang, B.T.3    Lee, M.H.4    Lo, S.Y.5
  • 21
    • 33746232536 scopus 로고    scopus 로고
    • Cystic Fibrosis Genetic Analysis Consortium. Cystic Fibrosis Mutation Database. www.genet.sickkids.on.ca/cftr/. Date last updated: 26 September 2005. Date last accessed: 28 September 2005.
  • 22
    • 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., et al. A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum Mol Genet 12 (2003) 2321-2332
    • (2003) Hum Mol Genet , vol.12 , pp. 2321-2332
    • Lee, J.H.1    Choi, J.H.2    Namkung, W.3
  • 23
    • 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., and Yoon Y.B. Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. Dig Dis Sci 50 (2005) 1852-1856
    • (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.B.6
  • 24
    • 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., and Goossens M. Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 21 (1994) 434-436
    • (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
  • 25
    • 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., 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 (1998) 487-496
    • (1998) J Clin Invest , vol.101 , pp. 487-496
    • Cuppens, H.1    Lin, W.2    Jaspers, M.3
  • 26
    • 0025906695 scopus 로고
    • Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium
    • Chu C.S., Trapnell B.C., Murtagh Jr. J.J., et al. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J 10 (1991) 1355-1363
    • (1991) EMBO J , vol.10 , pp. 1355-1363
    • Chu, C.S.1    Trapnell, B.C.2    Murtagh Jr., J.J.3
  • 27
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • Chu C.S., Trapnell B.C., Curristin S., Cutting G.R., and Crystal R.G. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 3 (1993) 151-156
    • (1993) Nat Genet , vol.3 , pp. 151-156
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.3    Cutting, G.R.4    Crystal, R.G.5
  • 28
    • 0027310434 scopus 로고
    • Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance
    • Strong T.V., Wilkinson D.J., Mansoura M.K., et al. Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance. Hum Mol Genet 2 (1993) 225-230
    • (1993) Hum Mol Genet , vol.2 , pp. 225-230
    • Strong, T.V.1    Wilkinson, D.J.2    Mansoura, M.K.3
  • 29
    • 9144235448 scopus 로고    scopus 로고
    • Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
    • Groman J.D., Hefferon T.W., Casals T., et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 74 (2004) 176-179
    • (2004) Am J Hum Genet , vol.74 , pp. 176-179
    • Groman, J.D.1    Hefferon, T.W.2    Casals, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.