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Volumn 14, Issue 5, 2015, Pages 580-586

Association of sweat chloride concentration at time of diagnosis and CFTR genotype with mortality and cystic fibrosis phenotype

Author keywords

Cystic fibrosis; Genetics; Respiratory function; Survival analysis

Indexed keywords

CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 84940955117     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2015.01.005     Document Type: Article
Times cited : (40)

References (23)
  • 1
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • Welsh M.J., Smith A.E. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993, 73:1251-1254.
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2
  • 2
    • 0026641782 scopus 로고
    • The spectrum of cystic fibrosis mutations
    • Tsui L.C. The spectrum of cystic fibrosis mutations. Trends Genet 1992, 8:392-398.
    • (1992) Trends Genet , vol.8 , pp. 392-398
    • Tsui, L.C.1
  • 3
    • 0028860909 scopus 로고
    • Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
    • Wilschanski M., Zielenski J., Markiewicz D., Tsui L.C., Corey M., Levison H., et al. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr 1995, 127:705-710.
    • (1995) J Pediatr , vol.127 , pp. 705-710
    • Wilschanski, M.1    Zielenski, J.2    Markiewicz, D.3    Tsui, L.C.4    Corey, M.5    Levison, H.6
  • 4
    • 0038663174 scopus 로고    scopus 로고
    • Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study
    • McKone E.F., Emerson S.S., Edwards K.L., Aitken M.L. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003, 361:1671-1676.
    • (2003) Lancet , vol.361 , pp. 1671-1676
    • McKone, E.F.1    Emerson, S.S.2    Edwards, K.L.3    Aitken, M.L.4
  • 5
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium
    • Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium. N Engl J Med 1993, 329:1308-1313.
    • (1993) N Engl J Med , vol.329 , pp. 1308-1313
  • 6
    • 0031219150 scopus 로고    scopus 로고
    • A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype
    • Kerem E., Nissim-Rafinia M., Argaman Z., Augarten A., Dentur L., Klar A., et al. A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype. Pediatrics 1997, 100:E5.
    • (1997) Pediatrics , vol.100 , pp. E5
    • Kerem, E.1    Nissim-Rafinia, M.2    Argaman, Z.3    Augarten, A.4    Dentur, L.5    Klar, A.6
  • 9
    • 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., Fitzsimmons S.C. The Association of Socioeconomic Status with Outcomes in Cystic Fibrosis Patients in the United States. Am J Respir Crit Care Med 2001, 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
  • 11
    • 68049096166 scopus 로고    scopus 로고
    • Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis
    • Goubau C., Wilschanski M., Skalicka V., Lebecque P., Southern K.W., Sermet I., et al. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax 2009, 64:683-691.
    • (2009) Thorax , vol.64 , pp. 683-691
    • Goubau, C.1    Wilschanski, M.2    Skalicka, V.3    Lebecque, P.4    Southern, K.W.5    Sermet, I.6
  • 12
    • 47049115524 scopus 로고    scopus 로고
    • Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis foundation consensus report
    • Farrell P.M., Rosenstein B.J., White T.B., Accurso F.J., Castellani C., Cutting G.R., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis foundation consensus report. J Pediatr 2008, 153:S4-S14.
    • (2008) J Pediatr , vol.153 , pp. S4-S14
    • Farrell, P.M.1    Rosenstein, B.J.2    White, T.B.3    Accurso, F.J.4    Castellani, C.5    Cutting, G.R.6
  • 13
    • 0030473619 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in cystic fibrosis
    • Kerem E., Kerem B. Genotype-phenotype correlations in cystic fibrosis. Pediatr Pulmonol 1996, 22:387-395.
    • (1996) Pediatr Pulmonol , vol.22 , pp. 387-395
    • Kerem, E.1    Kerem, B.2
  • 14
    • 0034545223 scopus 로고    scopus 로고
    • Genotypic analysis and phenotypic manifestations of children with intermediate sweat chloride test results
    • Desmarquest P., Feldmann D., Tamalat A., Boule M., Fauroux B., Tournier G., et al. Genotypic analysis and phenotypic manifestations of children with intermediate sweat chloride test results. Chest 2000, 118:1591-1597.
    • (2000) Chest , vol.118 , pp. 1591-1597
    • Desmarquest, P.1    Feldmann, D.2    Tamalat, A.3    Boule, M.4    Fauroux, B.5    Tournier, G.6
  • 15
    • 4143074815 scopus 로고    scopus 로고
    • Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis
    • Davis P.B., Schluchter M.D., Konstan M.W. Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis. Pediatr Pulmonol 2004, 38:204-209.
    • (2004) Pediatr Pulmonol , vol.38 , pp. 204-209
    • Davis, P.B.1    Schluchter, M.D.2    Konstan, M.W.3
  • 17
    • 33749446633 scopus 로고    scopus 로고
    • Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
    • Wilschanski M., Dupuis A., Ellis L., Jarvi K., Zielenski J., Tullis E., et al. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med 2006, 174:787-794.
    • (2006) Am J Respir Crit Care Med , vol.174 , pp. 787-794
    • Wilschanski, M.1    Dupuis, A.2    Ellis, L.3    Jarvi, K.4    Zielenski, J.5    Tullis, E.6
  • 18
    • 84864425704 scopus 로고    scopus 로고
    • Cystic fibrosis mutations for.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency
    • Sebro R., Levy H., Schneck K., Dimmock D., Raby B.A., Cannon C.L. Cystic fibrosis mutations for.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. Clin Genet 2011, 82:546-551.
    • (2011) Clin Genet , vol.82 , pp. 546-551
    • Sebro, R.1    Levy, H.2    Schneck, K.3    Dimmock, D.4    Raby, B.A.5    Cannon, C.L.6
  • 19
    • 4544330253 scopus 로고    scopus 로고
    • [Accessed November 15, 2013]
    • Cystic Fibrosis Foundation Patient Registry Annual Data Report [Accessed November 15, 2013]. http://www.cff.org/UploadedFiles/LivingWithCF/CareCenterNetwork/PatientRegistry/2010-Patient-Registry-Report.pdfPublished2011.
    • Patient Registry Annual Data Report
  • 20
    • 33751242495 scopus 로고    scopus 로고
    • CFTR genotype as a predictor of prognosis in cystic fibrosis
    • McKone E.F., Goss G.H., Aitken M.L. CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest 2006, 130:1441-1447.
    • (2006) Chest , vol.130 , pp. 1441-1447
    • McKone, E.F.1    Goss, G.H.2    Aitken, M.L.3
  • 21
    • 77956498322 scopus 로고    scopus 로고
    • Clinically useful spirometry in preschool-aged children: evaluation of the 2007 American Thoracic Society guidelines
    • Gaffin M., Lichtenberg Shotola N., Martin T.R., Phipatanakul W. Clinically useful spirometry in preschool-aged children: evaluation of the 2007 American Thoracic Society guidelines. J Asthma 2010, 47:762-767.
    • (2010) J Asthma , vol.47 , pp. 762-767
    • Gaffin, M.1    Lichtenberg Shotola, N.2    Martin, T.R.3    Phipatanakul, W.4
  • 22
    • 34250621406 scopus 로고    scopus 로고
    • Cystic fibrosis foundation. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines
    • LeGrys V.A., Yankaskas J.R., Quittell L.M., Marshall B.C., Mogayzel P.J. Cystic fibrosis foundation. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr 2007, 151:85-89.
    • (2007) J Pediatr , vol.151 , pp. 85-89
    • LeGrys, V.A.1    Yankaskas, J.R.2    Quittell, L.M.3    Marshall, B.C.4    Mogayzel, P.J.5
  • 23
    • 56049107062 scopus 로고    scopus 로고
    • Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals
    • Mishra A., Greaves R., Smith K., Carlin J.B., Wootton A., Stirling R., et al. Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals. J Pediatr 2008, 153:758-763.
    • (2008) J Pediatr , vol.153 , pp. 758-763
    • Mishra, A.1    Greaves, R.2    Smith, K.3    Carlin, J.B.4    Wootton, A.5    Stirling, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.