메뉴 건너뛰기




Volumn 53, Issue 5, 1998, Pages 389-397

The genetics of cystic fibrosis lung disease

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

EID: 0031810850     PISSN: 00406376     EISSN: None     Source Type: Journal    
DOI: 10.1136/thx.53.5.389     Document Type: Review
Times cited : (25)

References (54)
  • 2
    • 0026651508 scopus 로고
    • Chloride channels in the apical membrane of normal and cystic fibrosis airway and intestinal epithelia
    • Anderson MP, Sheppard DN, Berger HA, et al. Chloride channels in the apical membrane of normal and cystic fibrosis airway and intestinal epithelia. Am J Physiol 1992;263:L1-L14.
    • (1992) Am J Physiol , vol.263
    • Anderson, M.P.1    Sheppard, D.N.2    Berger, H.A.3
  • 4
    • 0002894986 scopus 로고
    • Mouse models for cystic fibrosis
    • Dodge JA, Brock DJH, Widdicombe JH, eds. Chichester: John Wiley
    • Dorin JR, Alton EWFW, Porteous DJ. Mouse models for cystic fibrosis. In: Dodge JA, Brock DJH, Widdicombe JH, eds. Cystic fibrosis current topics. Chichester: John Wiley, 1994: 3-31.
    • (1994) Cystic Fibrosis Current Topics , pp. 3-31
    • Dorin, J.R.1    Alton, E.W.F.W.2    Porteous, D.J.3
  • 5
    • 0004031105 scopus 로고    scopus 로고
    • The role of mouse models in the development of new therapies for cystic fibrosis
    • Houdebine LM, ed. Amsterdam: Harwood Academic Press
    • McLachlan G, Porteous DJ. The role of mouse models in the development of new therapies for cystic fibrosis. In: Houdebine LM, ed. Transgenic animals: generation and use. Amsterdam: Harwood Academic Press, 1997: 435-44.
    • (1997) Transgenic Animals: Generation and Use , pp. 435-444
    • McLachlan, G.1    Porteous, D.J.2
  • 6
    • 0010484763 scopus 로고
    • Mutation analysis in cystic fibrosis
    • Dodge JA, Brock DJH, Widdicombe JH, eds. Chichester: John Wiley
    • Tsui LC, Markiewicz D, Zielinski J, et al. Mutation analysis in cystic fibrosis. In: Dodge JA, Brock DJH, Widdicombe JH, eds. Cystic fibrosis current topics. Chichester: John Wiley, 1992: 27-44.
    • (1992) Cystic Fibrosis Current Topics , pp. 27-44
    • Tsui, L.C.1    Markiewicz, D.2    Zielinski, J.3
  • 7
    • 0029928789 scopus 로고    scopus 로고
    • Complexity in a monogenic disease
    • Estivill X. Complexity in a monogenic disease. Nature Genetics 1996;12:348-50.
    • (1996) Nature Genetics , vol.12 , pp. 348-350
    • Estivill, X.1
  • 8
    • 0026656343 scopus 로고
    • Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold-1 in respiratory epithelial messenger-RNA transcripts of the cystic-fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic-fibrosis
    • Chu CS, Trapnell BC, Curristin SM, Cutting GR, Crystal RG. Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold-1 in respiratory epithelial messenger-RNA transcripts of the cystic-fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic-fibrosis. Journal of Clinical Investigation 1992;90:785-90.
    • (1992) Journal of Clinical Investigation , vol.90 , pp. 785-790
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.M.3    Cutting, G.R.4    Crystal, R.G.5
  • 9
    • 0030687683 scopus 로고    scopus 로고
    • Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
    • Mak V, Jarvi KA, Zielenski J, et al. Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum Mol Genet 1997;6:2099-107.
    • (1997) Hum Mol Genet , vol.6 , pp. 2099-2107
    • Mak, V.1    Jarvi, K.A.2    Zielenski, J.3
  • 10
    • 0026918861 scopus 로고
    • Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis
    • Johnson LG, Olsen JC, Sarkadi B, et al. Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis. Nature Genetics 1992;2:21-5.
    • (1992) Nature Genetics , vol.2 , pp. 21-25
    • Johnson, L.G.1    Olsen, J.C.2    Sarkadi, B.3
  • 11
    • 0029813969 scopus 로고    scopus 로고
    • A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction
    • Dorin JR, Farley R, Webb S, et al. A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction. Gene Therapy 1996;3:797-801.
    • (1996) Gene Therapy , vol.3 , pp. 797-801
    • Dorin, J.R.1    Farley, R.2    Webb, S.3
  • 12
    • 13344282728 scopus 로고    scopus 로고
    • Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
    • Rozmahel R, Wilschanski M, Matin A, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nature Genetics 1996;13:280-7.
    • (1996) Nature Genetics , vol.13 , pp. 280-287
    • Rozmahel, R.1    Wilschanski, M.2    Matin, A.3
  • 13
    • 7144243920 scopus 로고    scopus 로고
    • Respiratory tract phenotype in different inbred and congenic CF mice strains
    • Dorin JR, Davidson DJ, Innes BA, et al. Respiratory tract phenotype in different inbred and congenic CF mice strains. Pediatr Pulmonol 1997;S14:182.
    • (1997) Pediatr Pulmonol , vol.S14 , pp. 182
    • Dorin, J.R.1    Davidson, D.J.2    Innes, B.A.3
  • 14
    • 0028982894 scopus 로고
    • CFTR as a cAMP-dependent regulator of sodium channels
    • Stutts MJ, Canessa CM, Olsen JC, et al. CFTR as a cAMP-dependent regulator of sodium channels. Science 1995;269: 847-50.
    • (1995) Science , vol.269 , pp. 847-850
    • Stutts, M.J.1    Canessa, C.M.2    Olsen, J.C.3
  • 15
    • 0030860084 scopus 로고    scopus 로고
    • The cystic fibrosis transmembrane conductance regulator and ATP
    • Devidas S, Guggino WB. The cystic fibrosis transmembrane conductance regulator and ATP. Curr Opin Cell Biol 1997; 9:547-52.
    • (1997) Curr Opin Cell Biol , vol.9 , pp. 547-552
    • Devidas, S.1    Guggino, W.B.2
  • 16
    • 0025784535 scopus 로고
    • Defective acidification of intracellular organelles in cystic fibrosis
    • Barasch J, Kiss B, Prince A, et al. Defective acidification of intracellular organelles in cystic fibrosis. Nature 1991;352: 70-3.
    • (1991) Nature , vol.352 , pp. 70-73
    • Barasch, J.1    Kiss, B.2    Prince, A.3
  • 17
    • 0029814366 scopus 로고    scopus 로고
    • Microbial pathogenesis in cystic fibrosis: Mucoid Pseudomonas aeruginosa and Burkholderia cepacia
    • Govan JW, Deretic V. Microbial pathogenesis in cystic fibrosis: mucoid Pseudomonas aeruginosa and Burkholderia cepacia. Microbiol Rev 1996;60:539-74.
    • (1996) Microbiol Rev , vol.60 , pp. 539-574
    • Govan, J.W.1    Deretic, V.2
  • 18
    • 0004916825 scopus 로고    scopus 로고
    • Acquisition of Pseudomonas aeruginosa in young infants
    • Grimwood K, Armstrong D, Carlin J, et al. Acquisition of Pseudomonas aeruginosa in young infants. Pediatr Pulmonol 1997;S14:133
    • (1997) Pediatr Pulmonol , vol.S14 , pp. 133
    • Grimwood, K.1    Armstrong, D.2    Carlin, J.3
  • 19
    • 0031039956 scopus 로고    scopus 로고
    • Peptide antibiotics
    • Hancock RW. Peptide antibiotics. Lancet 1997;349:418-22.
    • (1997) Lancet , vol.349 , pp. 418-422
    • Hancock, R.W.1
  • 20
    • 0008415090 scopus 로고
    • Fibrocystic disease of the pancreas in the newborn
    • Claireaux AK. Fibrocystic disease of the pancreas in the newborn. Arch Dis Child 1956;31:22-7.
    • (1956) Arch Dis Child , vol.31 , pp. 22-27
    • Claireaux, A.K.1
  • 21
    • 0016417460 scopus 로고
    • Pathology of cystic fibrosis: Review of the literature and comparison with 146 autopsied cases
    • Rosenberg HS, Bolande RP, eds. New York: Yearbook Medical Publishers
    • Oppenheimer EH, Esterly JR. Pathology of cystic fibrosis: review of the literature and comparison with 146 autopsied cases. In: Rosenberg HS, Bolande RP, eds. Perspectives in pediatric pathology. Volume 2. New York: Yearbook Medical Publishers, 1975: 241-78.
    • (1975) Perspectives in Pediatric Pathology , vol.2 , pp. 241-278
    • Oppenheimer, E.H.1    Esterly, J.R.2
  • 22
    • 0028914085 scopus 로고
    • Early pulmonary inflammation in infants with cystic fibrosis
    • Khan TZ, Wagener JS, Bost T, et al. Early pulmonary inflammation in infants with cystic fibrosis. Am J Respir Crit Care Med 1995;151:1075-82.
    • (1995) Am J Respir Crit Care Med , vol.151 , pp. 1075-1082
    • Khan, T.Z.1    Wagener, J.S.2    Bost, T.3
  • 23
    • 0030807878 scopus 로고    scopus 로고
    • Cystic fibrosis: Gene therapy or preventive gene transfer?
    • Drittanti L, Masciovecchio MV, Gabbarini J, et al. Cystic fibrosis: gene therapy or preventive gene transfer? Gene Therapy 1997;4:1001-3.
    • (1997) Gene Therapy , vol.4 , pp. 1001-1003
    • Drittanti, L.1    Masciovecchio, M.V.2    Gabbarini, J.3
  • 24
    • 0028913376 scopus 로고
    • Lung disease in the cystic fibrosis mouse exposed to bacterial pathogens
    • Davidson DJ, Dorin JR, McLachlan G, et al. Lung disease in the cystic fibrosis mouse exposed to bacterial pathogens. Nature Genetics 1995;9:351-7.
    • (1995) Nature Genetics , vol.9 , pp. 351-357
    • Davidson, D.J.1    Dorin, J.R.2    McLachlan, G.3
  • 25
    • 0030909647 scopus 로고    scopus 로고
    • Early alterations in airway mucociliary clearance and inflammation of the lamina propria in CF mice
    • Zahm JM, Gaillard D, Dupuit F, et al. Early alterations in airway mucociliary clearance and inflammation of the lamina propria in CF mice. Am J Physiol: Cell Physiol 1997; 41:C853-9.
    • (1997) Am J Physiol: Cell Physiol , vol.41
    • Zahm, J.M.1    Gaillard, D.2    Dupuit, F.3
  • 26
    • 0031452350 scopus 로고    scopus 로고
    • Excessive inflammatory response of cystic fibrosis mice to broncho-pulmonary infection with Pseudomonas aeruginosa
    • van Heeckeren A, Walenga R, Konstan MW, et al. Excessive inflammatory response of cystic fibrosis mice to broncho-pulmonary infection with Pseudomonas aeruginosa. J Clin Invest 1997;100:2810-5.
    • (1997) J Clin Invest , vol.100 , pp. 2810-2815
    • Van Heeckeren, A.1    Walenga, R.2    Konstan, M.W.3
  • 27
    • 0030727615 scopus 로고    scopus 로고
    • Towards an ovine model of cystic fibrosis
    • Harris A. Towards an ovine model of cystic fibrosis. Hum Mol Genet 1997;6:2191-3.
    • (1997) Hum Mol Genet , vol.6 , pp. 2191-2193
    • Harris, A.1
  • 28
    • 0022380149 scopus 로고
    • Rheological and transport properties of airway secretions in cystic fibrosis relationships with the degree of infection and severity of the disease
    • Puchelle E, Jacquot J, Beck G, et al. Rheological and transport properties of airway secretions in cystic fibrosis relationships with the degree of infection and severity of the disease. Eur J Cin Invest 1985;15:389-94.
    • (1985) Eur J Cin Invest , vol.15 , pp. 389-394
    • Puchelle, E.1    Jacquot, J.2    Beck, G.3
  • 29
    • 0017251117 scopus 로고
    • Mucociliary transport in trachea of patients with cystic fibrosis
    • Yeates DB, Sturgess JM, Kahn SR, et al. Mucociliary transport in trachea of patients with cystic fibrosis. Arch Dis Child 1976;51:28-33.
    • (1976) Arch Dis Child , vol.51 , pp. 28-33
    • Yeates, D.B.1    Sturgess, J.M.2    Kahn, S.R.3
  • 30
    • 0028343344 scopus 로고
    • Mucociliary clearance in patients with cystic-fibrosis and in normal subjects
    • Regnis JA, Robinson M, Bailey DL, et al. Mucociliary clearance in patients with cystic-fibrosis and in normal subjects. Am J Respir Crit Care Med 1994;150:66-71.
    • (1994) Am J Respir Crit Care Med , vol.150 , pp. 66-71
    • Regnis, J.A.1    Robinson, M.2    Bailey, D.L.3
  • 31
    • 0002316317 scopus 로고    scopus 로고
    • Ciliary dysfunction
    • Crystal RG, West JB, Weibel ER, Barnes PJ, eds. New York: Lippincott-Raven
    • Afzelius BA. Ciliary dysfunction. In: Crystal RG, West JB, Weibel ER, Barnes PJ, eds. The Lung; Scientific Foundations. 2nd ed. New York: Lippincott-Raven, 1997: 2573-8.
    • (1997) The Lung; Scientific Foundations. 2nd Ed. , pp. 2573-2578
    • Afzelius, B.A.1
  • 32
    • 0344520815 scopus 로고    scopus 로고
    • Respiratory disease in patients with the systemic form of pseudo-hypoaldosteronism type 1
    • Kerem E, Bistrizer T, Hanukoglu A, et al. Respiratory disease in patients with the systemic form of pseudo-hypoaldosteronism type 1. Pediatr Pulmonol 1997;S14:78.
    • (1997) Pediatr Pulmonol , vol.S14 , pp. 78
    • Kerem, E.1    Bistrizer, T.2    Hanukoglu, A.3
  • 33
    • 0031029855 scopus 로고    scopus 로고
    • Transcriptional activation of mucin by Pseudomonas aeruginosa lipopolysaccharide in the pathogenesis of cystic fibrosis lung disease
    • Li JD, Dohrman AF, Gallup M, et al. Transcriptional activation of mucin by Pseudomonas aeruginosa lipopolysaccharide in the pathogenesis of cystic fibrosis lung disease. Proc Natl Acad Sci USA 1997;94:967-72.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 967-972
    • Li, J.D.1    Dohrman, A.F.2    Gallup, M.3
  • 34
    • 0029870085 scopus 로고    scopus 로고
    • Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid
    • Smith JJ, Travis SM, Greenberg EP, et al. Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid. Cell 1996;85:229-36.
    • (1996) Cell , vol.85 , pp. 229-236
    • Smith, J.J.1    Travis, S.M.2    Greenberg, E.P.3
  • 35
    • 0030949875 scopus 로고    scopus 로고
    • Human beta-defensin-1 is a salt-sensitive antibiotic in lung that is inactivated in cystic fibrosis
    • Goldman MJ, Anderson GM, Stolzenberg ED, et al. Human beta-defensin-1 is a salt-sensitive antibiotic in lung that is inactivated in cystic fibrosis. Cell 1997;88:553-60.
    • (1997) Cell , vol.88 , pp. 553-560
    • Goldman, M.J.1    Anderson, G.M.2    Stolzenberg, E.D.3
  • 36
    • 0030820726 scopus 로고    scopus 로고
    • A peptide antibiotic from human skin
    • Harder J, Bartels J, Christophers E, et al. A peptide antibiotic from human skin. Nature 1997;387:861.
    • (1997) Nature , vol.387 , pp. 861
    • Harder, J.1    Bartels, J.2    Christophers, E.3
  • 37
    • 0344144419 scopus 로고    scopus 로고
    • Components of airway surface fluid have synergistic antimicrobial activity
    • Singh P, Welsh MJ. Components of airway surface fluid have synergistic antimicrobial activity. Pediatr Pulmonol 1997; S14:323.
    • (1997) Pediatr Pulmonol , vol.S14 , pp. 323
    • Singh, P.1    Welsh, M.J.2
  • 40
    • 0030814886 scopus 로고    scopus 로고
    • Ion composition of airway surface liquid of patients with cystic fibrosis as compared with normal and disease-control subjects
    • Knowles MR, Robinson JM, Wood RE, et al. Ion composition of airway surface liquid of patients with cystic fibrosis as compared with normal and disease-control subjects. J Clin Invest 1997;100:2588-95.
    • (1997) J Clin Invest , vol.100 , pp. 2588-2595
    • Knowles, M.R.1    Robinson, J.M.2    Wood, R.E.3
  • 41
    • 0030747618 scopus 로고    scopus 로고
    • The mouse genome encodes a single homolog of the antimicrobial peptide human beta-defensin-1
    • Huttner KM, Kozak CA, Bevins CL. The mouse genome encodes a single homolog of the antimicrobial peptide human beta-defensin-1. FEBS Lett 1997;413:45-9.
    • (1997) FEBS Lett , vol.413 , pp. 45-49
    • Huttner, K.M.1    Kozak, C.A.2    Bevins, C.L.3
  • 42
    • 0031874723 scopus 로고    scopus 로고
    • Mouse beta defensin-1 is a functional homologue of human beta defensin-1
    • in press
    • Morrison GM, Davidson DJ, Kilanowski FM, et al. Mouse beta defensin-1 is a functional homologue of human beta defensin-1. Mamm Genome (in press).
    • Mamm Genome
    • Morrison, G.M.1    Davidson, D.J.2    Kilanowski, F.M.3
  • 43
    • 0027428606 scopus 로고
    • Pseudomonas aeruginosa pili bind to asialoGM1 which is increased on the surface of cystic fibrosis epithelial cells
    • Saiman L, Prince A. Pseudomonas aeruginosa pili bind to asialoGM1 which is increased on the surface of cystic fibrosis epithelial cells. J Clin Invest 1993;92:1875-80.
    • (1993) J Clin Invest , vol.92 , pp. 1875-1880
    • Saiman, L.1    Prince, A.2
  • 44
    • 0029920335 scopus 로고    scopus 로고
    • AsialoGM1 is a receptor for Pseudomonas aeruginosa adherence to regenerating respiratory epithelial cells
    • Debentzmann S, Roger P, Dupuit F, et al. AsialoGM1 is a receptor for Pseudomonas aeruginosa adherence to regenerating respiratory epithelial cells. Infect Immun 1996;64: 1582-8.
    • (1996) Infect Immun , vol.64 , pp. 1582-1588
    • Debentzmann, S.1    Roger, P.2    Dupuit, F.3
  • 45
    • 0031156473 scopus 로고    scopus 로고
    • CFTR gene transfer reduces the binding of Pseudomonas aeruginosa to cystic fibrosis respiratory epithelium
    • Davies JC, Stern M, Dewar A, et al. CFTR gene transfer reduces the binding of Pseudomonas aeruginosa to cystic fibrosis respiratory epithelium. Am J Respir Cell Mol Biol 1997;16:657-63.
    • (1997) Am J Respir Cell Mol Biol , vol.16 , pp. 657-663
    • Davies, J.C.1    Stern, M.2    Dewar, A.3
  • 46
    • 0030021470 scopus 로고    scopus 로고
    • Role of mutant CFTR in hyper susceptibility of cystic fibrosis patients to lung infections
    • Pier GB, Grout M, Zaidi TS, et al. Role of mutant CFTR in hyper susceptibility of cystic fibrosis patients to lung infections. Science 1996;271:64-7.
    • (1996) Science , vol.271 , pp. 64-67
    • Pier, G.B.1    Grout, M.2    Zaidi, T.S.3
  • 47
    • 0030691027 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator is an epithelial cell receptor for clearance of Pseudomonas aeruginosa from the lung
    • Pier GB, Grout M, Zaidi TS. Cystic fibrosis transmembrane conductance regulator is an epithelial cell receptor for clearance of Pseudomonas aeruginosa from the lung. Proc Natl Acad Sci USA 1997;94:12088-93.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 12088-12093
    • Pier, G.B.1    Grout, M.2    Zaidi, T.S.3
  • 48
    • 0029063956 scopus 로고
    • Alternate translation initiation codons can create functional forms of cystic fibrosis transmembrane conductance regulator
    • Carroll TP, Morales MM, Fulmer SB, et al. Alternate translation initiation codons can create functional forms of cystic fibrosis transmembrane conductance regulator. J Biol Chem 1995;270:11941-6.
    • (1995) J Biol Chem , vol.270 , pp. 11941-11946
    • Carroll, T.P.1    Morales, M.M.2    Fulmer, S.B.3
  • 49
    • 0031451671 scopus 로고    scopus 로고
    • Cystic fibrosis lung infection cleared up?
    • Porteous DJ, Davidson DJ. Cystic fibrosis lung infection cleared up? Nature Medicine 1997;2:1317-8.
    • (1997) Nature Medicine , vol.2 , pp. 1317-1318
    • Porteous, D.J.1    Davidson, D.J.2
  • 51
    • 0344697015 scopus 로고    scopus 로고
    • Consequences to the lung of specific deficiencies in host defence
    • Crystal RG, West JB, Weibel ER, Barnes PJ, eds. New York: Lippincott-Raven
    • Sanders A, Crystal RG. Consequences to the lung of specific deficiencies in host defence. In: Crystal RG, West JB, Weibel ER, Barnes PJ, eds. The Lung: Scientific Foundations. 2nd ed. New York: Lippincott-Raven, 1997: 2367-70.
    • (1997) The Lung: Scientific Foundations. 2nd Ed. , pp. 2367-2370
    • Sanders, A.1    Crystal, R.G.2
  • 52
    • 0026523829 scopus 로고
    • Cystic fibrosis: Molecular biology and therapeutic implications
    • Collins FS. Cystic fibrosis: molecular biology and therapeutic implications. Science 1992;256:774-9.
    • (1992) Science , vol.256 , pp. 774-779
    • Collins, F.S.1
  • 53
    • 0029898456 scopus 로고    scopus 로고
    • New pharmaceutical approaches to the treatment of cystic fibrosis
    • Delaney SJ, Wainwright BJ. New pharmaceutical approaches to the treatment of cystic fibrosis. Nature Medicine 1996;2:392-3.
    • (1996) Nature Medicine , vol.2 , pp. 392-393
    • Delaney, S.J.1    Wainwright, B.J.2
  • 54
    • 7144232846 scopus 로고    scopus 로고
    • Gene therapy clinical trials for cystic fibrosis (viral and non-viral approaches)
    • Rolland A, ed. New York: Harwood Academic Publishers, in press
    • Ho L-P, McLachlan G. Gene therapy clinical trials for cystic fibrosis (viral and non-viral approaches). In: Rolland A, ed. Advanced gene delivery: from concepts to pharmaceutical products. New York: Harwood Academic Publishers, 1997: in press.
    • (1997) Advanced Gene Delivery: From Concepts to Pharmaceutical Products
    • Ho, L.-P.1    McLachlan, G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.