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Volumn 55, Issue 5, 2009, Pages 281-286

Diagnostic challenges of cystic fibrosis in patients of African origin

Author keywords

[No Author keywords available]

Indexed keywords

EPITHELIAL SODIUM CHANNEL; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 73149086411     PISSN: 01426338     EISSN: 14653664     Source Type: Journal    
DOI: 10.1093/tropej/fmp064     Document Type: Editorial
Times cited : (11)

References (63)
  • 1
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: chromosome walking and jumping
    • Rommens JM, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245:1059-65.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1    Iannuzzi, M.C.2    Kerem, B.3
  • 2
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: genetic analysis
    • Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-80.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1    Rommens, J.M.2    Buchanan, J.A.3
  • 3
    • 0014201538 scopus 로고
    • Mucoviscidosis (cystic fibrosis of the pancreas) in Bantu twin neonates
    • Levin SE, Blumberg H, Zamit R, et al. Mucoviscidosis (cystic fibrosis of the pancreas) in Bantu twin neonates. S Afr Med J 1967;41:482-5.
    • (1967) S Afr Med J , vol.41 , pp. 482-185
    • Levin, S.E.1    Blumberg, H.2    Zamit, R.3
  • 4
    • 0345582285 scopus 로고
    • Fibrocystic disease of the pancreas in the Bantu
    • Grove SS. Fibrocystic disease of the pancreas in the Bantu. S Afr J Lab Clin Med 1959;5:113-9.
    • (1959) S Afr J Lab Clin Med , vol.5 , pp. 113-119
    • Grove, S.S.1
  • 5
    • 0014433465 scopus 로고
    • Cystic fibrosis in an Oriental child
    • Wang CI, Sumi WT, Stanton R, et al. Cystic fibrosis in an Oriental child. N Engl J Med 1968;279:1216-8.
    • (1968) N Engl J Med , vol.279 , pp. 1216-1218
    • Wang, C.I.1    Sumi, W.T.2    Stanton, R.3
  • 6
    • 0021191890 scopus 로고
    • [Cystic fibrosis in an African child. Apropos of a case]
    • Demay G, Cheron G, Challier P, et al. [Cystic fibrosis in an African child. Apropos of a case]. Arch Fr Pediatr 1984;41:370.
    • (1984) Arch Fr Pediatr , vol.41 , pp. 370
    • Demay, G.1    Cheron, G.2    Challier, P.3
  • 7
    • 0032929774 scopus 로고    scopus 로고
    • Cystic fibrosis carrier frequencies in populations of African origin
    • Padoa C, Goldman A, Jenkins T, et al. Cystic fibrosis carrier frequencies in populations of African origin. J Med Genet 1999;36:41-4.
    • (1999) J Med Genet , vol.36 , pp. 41-44
    • Padoa, C.1    Goldman, A.2    Jenkins, T.3
  • 8
    • 0035169491 scopus 로고    scopus 로고
    • The molecular basis of cystic fibrosis in South Africa
    • Goldman A, Labrum R, Claustres M, et al. The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001;59:37-41.
    • (2001) Clin Genet , vol.59 , pp. 37-41
    • Goldman, A.1    Labrum, R.2    Claustres, M.3
  • 9
    • 11944258347 scopus 로고    scopus 로고
    • Research outputs in respiratory medicine
    • Rippon I, Lewison G, Partridge MR. Research outputs in respiratory medicine. Thorax 2005;60:63-7.
    • (2005) Thorax , vol.60 , pp. 63-67
    • Rippon, I.1    Lewison, G.2    Partridge, M.R.3
  • 10
    • 0027519430 scopus 로고
    • Cystic fibrosis presenting as kwashiorkor with florid skin rash
    • Phillips RJ, Crock CM, Dillon MJ, et al. Cystic fibrosis presenting as kwashiorkor with florid skin rash. Arch Dis Child 1993;69:446-8.
    • (1993) Arch Dis Child , vol.69 , pp. 446-448
    • Phillips, R.J.1    Crock, C.M.2    Dillon, M.J.3
  • 11
    • 3843137250 scopus 로고    scopus 로고
    • The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study
    • Felley C, Morris MA, Wonkam A, et al. The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. AIDS 2004;18:1521-7.
    • (2004) AIDS , vol.18 , pp. 1521-1527
    • Felley, C.1    Morris, M.A.2    Wonkam, A.3
  • 12
    • 3943097369 scopus 로고    scopus 로고
    • Cystic fibrosis diagnosed in a 38-year-old man with long-standing HIV infection
    • Hoyer HX, Schmid H, Gamarra F, et al. Cystic fibrosis diagnosed in a 38-year-old man with long-standing HIV infection. Clin Infect Dis 2004;39:438-9.
    • (2004) Clin Infect Dis , vol.39 , pp. 438-439
    • Hoyer, H.X.1    Schmid, H.2    Gamarra, F.3
  • 13
    • 19244364425 scopus 로고    scopus 로고
    • First report of CFTR mutations in black cystic fibrosis patients of southern African origin
    • Carles S, Desgeorges M, Goldman A, et al. First report of CFTR mutations in black cystic fibrosis patients of southern African origin. J Med Genet 1996; 33:802-4.
    • (1996) J Med Genet , vol.33 , pp. 802-804
    • Carles, S.1    Desgeorges, M.2    Goldman, A.3
  • 14
    • 0035227138 scopus 로고    scopus 로고
    • A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family
    • Monnier N, Gout JP, Pin I, et al. A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family. J Med Genet 2001;38:E4.
    • (2001) J Med Genet , vol.38
    • Monnier, N.1    Gout, J.P.2    Pin, I.3
  • 15
    • 1842477279 scopus 로고    scopus 로고
    • Novel CFTR mutations in black cystic fibrosis patients
    • Feuillet-Fieux MN, Ferrec M, Gigarel N, et al. Novel CFTR mutations in black cystic fibrosis patients. Clin Genet 2004;65:284-7.
    • (2004) Clin Genet , vol.65 , pp. 284-287
    • Feuillet-Fieux, M.N.1    Ferrec, M.2    Gigarel, N.3
  • 16
    • 16944366526 scopus 로고    scopus 로고
    • Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
    • Macek M Jr, Mackova A, Hamosh A, et al. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 1997; 60:1122-7.
    • (1997) Am J Hum Genet , vol.60 , pp. 1122-1127
    • Macek M., Jr.1    Mackova, A.2    Hamosh, A.3
  • 17
    • 0027730242 scopus 로고
    • The worldwide magnitude of protein-energy malnutrition: an overview from the WHO Global Database on Child Growth
    • de Onis M, Monteiro C, Akre J, et al. The worldwide magnitude of protein-energy malnutrition: an overview from the WHO Global Database on Child Growth. Bull World Health Organ 1993;71:703-12.
    • (1993) Bull World Health Organ , vol.71 , pp. 703-712
    • de Onis, M.1    Monteiro, C.2    Akre, J.3
  • 18
    • 0031821281 scopus 로고    scopus 로고
    • Mortality in severe protein-energy malnutrition at Nchelenge, Zambia
    • Gernaat HB, Dechering WH, Voorhoeve HW. Mortality in severe protein-energy malnutrition at Nchelenge, Zambia. J Trop Pediatr 1998;44:211-7.
    • (1998) J Trop Pediatr , vol.44 , pp. 211-217
    • Gernaat, H.B.1    Dechering, W.H.2    Voorhoeve, H.W.3
  • 19
    • 33745169705 scopus 로고    scopus 로고
    • Cystic fibrosis: nutritional consequences and management
    • Dodge JA, Turck D. Cystic fibrosis: nutritional consequences and management. Best Pract Res Clin Gastroenterol 2006;20:531-46.
    • (2006) Best Pract Res Clin Gastroenterol , vol.20 , pp. 531-546
    • Dodge, J.A.1    Turck, D.2
  • 20
    • 15244361944 scopus 로고    scopus 로고
    • Nutrition for patients with cystic fibrosis
    • Olson DL, Schwenk WF II. Nutrition for patients with cystic fibrosis. Nutr Clin Pract 2004;19:575-80.
    • (2004) Nutr Clin Pract , vol.19 , pp. 575-580
    • Olson, D.L.1    Schwenk W.F. II2
  • 22
    • 0037027076 scopus 로고    scopus 로고
    • Protein energy malnutrition and risk of tuberculosis infection
    • Boelaert JR, Gordeuk VR. Protein energy malnutrition and risk of tuberculosis infection. Lancet 2002;360:1102.
    • (2002) Lancet , vol.360 , pp. 1102
    • Boelaert, J.R.1    Gordeuk, V.R.2
  • 23
    • 0031953194 scopus 로고    scopus 로고
    • Comparison of the clinical manifestations of cystic fibrosis in black and white patients
    • Hamosh A, FitzSimmons SC, Macek M Jr, et al. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 1998; 132:255-9.
    • (1998) J Pediatr , vol.132 , pp. 255-259
    • Hamosh, A.1    FitzSimmons, S.C.2    Macek M., Jr.3
  • 24
    • 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. Nat Genet 1996; 12:280-7.
    • (1996) Nat Genet , vol.12 , pp. 280-287
    • Rozmahel, R.1    Wilschanski, M.2    Matin, A.3
  • 25
    • 0031687701 scopus 로고    scopus 로고
    • What is a cystic fibrosis diagnosis?
    • Rosenstein BJ. What is a cystic fibrosis diagnosis? Clin Chest Med 1998;19:423-41.
    • (1998) Clin Chest Med , vol.19 , pp. 423-441
    • Rosenstein, B.J.1
  • 26
    • 0028015614 scopus 로고
    • Concentration of electrolytes in the sweat of malnourished children
    • Rodrigues ME, Melo MC, Reis FJ, et al. Concentration of electrolytes in the sweat of malnourished children. Arch Dis Child 1994;71:141-3.
    • (1994) Arch Dis Child , vol.71 , pp. 141-143
    • Rodrigues, M.E.1    Melo, M.C.2    Reis, F.J.3
  • 27
    • 4644272702 scopus 로고    scopus 로고
    • Sweat test results in children with primary protein energy mal-nutrition
    • Yigit H, Selimoglu MA, Altinkaynak S. Sweat test results in children with primary protein energy malnutrition. J Pediatr Gastroenterol Nutr 2003;37:242-5.
    • (2003) J Pediatr Gastroenterol Nutr , vol.37 , pp. 242-245
    • Yigit, H.1    Selimoglu, M.A.2    Altinkaynak, S.3
  • 28
    • 65949097928 scopus 로고    scopus 로고
    • Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants
    • Mutesa L, Azad AK, Verhaeghe C, et al. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. Chest 2009;135:1233-42.
    • (2009) Chest , vol.135 , pp. 1233-1234
    • Mutesa, L.1    Azad, A.K.2    Verhaeghe, C.3
  • 29
    • 0042661269 scopus 로고    scopus 로고
    • Molecular diagnosis of cystic fibrosis in South African populations
    • Goldman A, Graf C, Ramsay M, et al. Molecular diagnosis of cystic fibrosis in South African populations. S Afr Med J 2003;93:518-9.
    • (2003) S Afr Med J , vol.93 , pp. 518-519
    • Goldman, A.1    Graf, C.2    Ramsay, M.3
  • 30
    • 33645976875 scopus 로고    scopus 로고
    • Diagnosing cystic fibrosis in South Africa
    • Westwood T, Henderson B, Ramsay M. Diagnosing cystic fibrosis in South Africa. S Afr Med J 2006; 96:304-6.
    • (2006) S Afr Med J , vol.96 , pp. 304-306
    • Westwood, T.1    Henderson, B.2    Ramsay, M.3
  • 31
    • 0025310336 scopus 로고
    • A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
    • Cutting GR, Kasch LM, Rosenstein BJ, et al. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 1990;346:366-9.
    • (1990) Nature , vol.346 , pp. 366-369
    • Cutting, G.R.1    Kasch, L.M.2    Rosenstein, B.J.3
  • 32
    • 0026629124 scopus 로고
    • Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians
    • Cutting GR, Curristin SM, Nash E, et al. Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet 1992;50:1185-94.
    • (1992) Am J Hum Genet , vol.50 , pp. 1185-1194
    • Cutting, G.R.1    Curristin, S.M.2    Nash, E.3
  • 33
    • 0025855807 scopus 로고
    • Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)
    • White MB, Krueger LJ, Holsclaw DS Jr, et al. Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). Genomics 1991;10:266-9.
    • (1991) Genomics , vol.10 , pp. 266-269
    • White, M.B.1    Krueger, L.J.2    Holsclaw D.S., Jr.3
  • 34
    • 0026621065 scopus 로고
    • Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families
    • Ober C, Lester LA, Mott C, et al. Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families. Am J Hum Genet 1992;51:1344-8.
    • (1992) Am J Hum Genet , vol.51 , pp. 1344-1348
    • Ober, C.1    Lester, L.A.2    Mott, C.3
  • 35
    • 0028920027 scopus 로고
    • Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity
    • Smit LS, Strong TV, Wilkinson DJ, et al. Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity. Hum Mol Genet 1995;4:269-73.
    • (1995) Hum Mol Genet , vol.4 , pp. 269-273
    • Smit, L.S.1    Strong, T.V.2    Wilkinson, D.J.3
  • 36
    • 0027207990 scopus 로고
    • An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels
    • Smit LS, Nasr SZ, Iannuzzi MC, et al. An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels. Hum Mutat 1993;2:148-51.
    • (1993) Hum Mutat , vol.2 , pp. 148-151
    • Smit, L.S.1    Nasr, S.Z.2    Iannuzzi, M.C.3
  • 37
    • 1842447451 scopus 로고    scopus 로고
    • A novel missense mutation, R1283S, of the cystic fibrosis transmembrane conductance regulator gene in a 47-year-old African-American patient
    • Wang YL, Chen KL, Joshi II, et al. A novel missense mutation, R1283S, of the cystic fibrosis transmembrane conductance regulator gene in a 47-year-old African-American patient. Mol Diagn 1997;2:205-8.
    • (1997) Mol Diagn , vol.2 , pp. 205-208
    • Wang, Y.L.1    Chen, K.L.2    Joshi, I.I.3
  • 38
    • 2642512392 scopus 로고    scopus 로고
    • Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations
    • Monaghan KG, Bluhm D, Phillips M, et al. Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations. Genet Med 2004; 6:141-4.
    • (2004) Genet Med , vol.6 , pp. 141-14
    • Monaghan, K.G.1    Bluhm, D.2    Phillips, M.3
  • 39
    • 16644364841 scopus 로고    scopus 로고
    • Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients
    • Alper OM, Wong LJ, Young S, et al. Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. Hum Mutat 2004;24:353.
    • (2004) Hum Mutat , vol.24 , pp. 353
    • Alper, O.M.1    Wong, L.J.2    Young, S.3
  • 40
    • 0031939729 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane-conductance regulator mutations among African Americans
    • Friedman KJ, Leigh MW, Czarnecki P, et al. Cystic fibrosis transmembrane-conductance regulator mutations among African Americans. Am J Hum Genet 1998;62:195-6.
    • (1998) Am J Hum Genet , vol.62 , pp. 195-196
    • Friedman, K.J.1    Leigh, M.W.2    Czarnecki, P.3
  • 41
    • 0032231388 scopus 로고    scopus 로고
    • Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G->A in diverse populations
    • Dork T, El-Harith EH, Stuhrmann M, et al. Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G->A in diverse populations. Am J Hum Genet 1998;63:656-62.
    • (1998) Am J Hum Genet , vol.63 , pp. 656-662
    • Dork, T.1    El-Harith, E.H.2    Stuhrmann, M.3
  • 42
    • 4644298390 scopus 로고    scopus 로고
    • CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations
    • Sugarman EA, Rohlfs EM, Silverman LM, et al. CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med 2004;6:392-9.
    • (2004) Genet Med , vol.6 , pp. 392-399
    • Sugarman, E.A.1    Rohlfs, E.M.2    Silverman, L.M.3
  • 43
    • 10744221410 scopus 로고    scopus 로고
    • High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing
    • Raskin S, Pereira L, Reis F, et al. High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing. Genet Test 2003;7:213-8.
    • (2003) Genet Test , vol.7 , pp. 213-218
    • Raskin, S.1    Pereira, L.2    Reis, F.3
  • 44
    • 33645999677 scopus 로고    scopus 로고
    • Cystic fibrosis in black patients: Western Cape experiences
    • Westwood T, Brown R. Cystic fibrosis in black patients: Western Cape experiences. S Afr Med J 2006;96:288-9.
    • (2006) S Afr Med J , vol.96 , pp. 288-289
    • Westwood, T.1    Brown, R.2
  • 45
    • 0032984608 scopus 로고    scopus 로고
    • First putative sequence alterations in the minimal CFTR promoter region
    • Romey MC, Guittard C, Carles S, et al. First putative sequence alterations in the minimal CFTR promoter region. J Med Genet 1999;36:263-4.
    • (1999) J Med Genet , vol.36 , pp. 263-264
    • Romey, M.C.1    Guittard, C.2    Carles, S.3
  • 46
    • 55949100479 scopus 로고    scopus 로고
    • WGA allows the molecular characterization of a novel large CFTR rearrangement in a Black South African cystic fibrosis patient
    • des Georges M, Guittard C, Templin C, et al. WGA allows the molecular characterization of a novel large CFTR rearrangement in a Black South African cystic fibrosis patient. J Mol Diagn 2008;10:544-8.
    • (2008) J Mol Diagn , vol.10 , pp. 544-548
    • des Georges, M.1    Guittard, C.2    Templin, C.3
  • 47
    • 57649171512 scopus 로고    scopus 로고
    • Common mutations in Cuban cystic fibrosis patients
    • Collazo T, Bofill AM, Clark Y, et al. Common mutations in Cuban cystic fibrosis patients. J Cyst Fibros 2009;8:47-9.
    • (2009) J Cyst Fibros , vol.8 , pp. 47-49
    • Collazo, T.1    Bofill, A.M.2    Clark, Y.3
  • 48
    • 0034743399 scopus 로고    scopus 로고
    • The 3120 +1G->A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients
    • Cabello GM, Cabello EHJJL, Fernande O, et al. The 3120 +1G->A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients. Hum Biol 2001; 73:403-9.
    • (2001) Hum Biol , vol.73 , pp. 403-409
    • Cabello, G.M.1    Cabello, E.H.J.J.L.2    Fernande, O.3
  • 49
    • 0030830668 scopus 로고    scopus 로고
    • Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis
    • el-Harith EA, Dork T, Stuhrmann M, et al. Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. J Med Genet 1997; 34:996-9.
    • (1997) J Med Genet , vol.34 , pp. 996-999
    • el-Harith, E.A.1    Dork, T.2    Stuhrmann, M.3
  • 50
    • 0031060651 scopus 로고    scopus 로고
    • Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations
    • Tzetis M, Kanavakis E, Antoniadi T, et al. Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations. Hum Genet 1997;99:121-5.
    • (1997) Hum Genet , vol.99 , pp. 121-125
    • Tzetis, M.1    Kanavakis, E.2    Antoniadi, T.3
  • 51
    • 0025133518 scopus 로고
    • Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
    • Kerem BS, Zielenski J, Markiewicz D, et al. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 1990;87:8447-51.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 8447-8451
    • Kerem, B.S.1    Zielenski, J.2    Markiewicz, D.3
  • 52
    • 0026004723 scopus 로고
    • Analysis of 14 cystic fibrosis mutations in five south European populations
    • Nunes V, Gasparini P, Novelli G, et al. Analysis of 14 cystic fibrosis mutations in five south European populations. Hum Genet 1991;87:737-8.
    • (1991) Hum Genet , vol.87 , pp. 737-738
    • Nunes, V.1    Gasparini, P.2    Novelli, G.3
  • 53
    • 18244405370 scopus 로고    scopus 로고
    • Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations
    • Strandvik B, Bjorck E, Fallstrom M, et al. Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations. Genet Test 2001;5:235-42.
    • (2001) Genet Test , vol.5 , pp. 235-242
    • Strandvik, B.1    Bjorck, E.2    Fallstrom, M.3
  • 54
    • 40749095333 scopus 로고    scopus 로고
    • Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations
    • Alibakhshi R, Kianishirazi R, Cassiman JJ, et al. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. J Cyst Fibros 2008;7:102-9.
    • (2008) J Cyst Fibros , vol.7 , pp. 102-109
    • Alibakhshi, R.1    Kianishirazi, R.2    Cassiman, J.J.3
  • 55
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
    • Bobadilla JL, Macek M Jr, Fine JP, et al. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek M, Jr.2    Fine, J.P.3
  • 56
    • 33845992179 scopus 로고    scopus 로고
    • Evidence for airway surface dehydration as the initiating event in CF airway disease
    • Boucher RC. Evidence for airway surface dehydration as the initiating event in CF airway disease. J Intern Med 2007;261:5-16.
    • (2007) J Intern Med , vol.261 , pp. 5-16
    • Boucher, R.C.1
  • 57
    • 2442645035 scopus 로고    scopus 로고
    • Finally, mice with CF lung disease
    • Frizzell RA, Pilewski JM. Finally, mice with CF lung disease. Nat Med 2004;10:452-4.
    • (2004) Nat Med , vol.10 , pp. 452-454
    • Frizzell, R.A.1    Pilewski, J.M.2
  • 58
    • 34249662628 scopus 로고    scopus 로고
    • Cystic fibrosis: a disease of vulnerability to airway surface dehydration
    • Boucher RC. Cystic fibrosis: a disease of vulnerability to airway surface dehydration. Trends Mol Med 2007;13:231-40.
    • (2007) Trends Mol Med , vol.13 , pp. 231-240
    • Boucher, R.C.1
  • 59
    • 36348979793 scopus 로고    scopus 로고
    • Sodium channels and cystic fibrosis
    • Donaldson SH, Boucher RC. Sodium channels and cystic fibrosis. Chest 2007;132:1631-6.
    • (2007) Chest , vol.132 , pp. 1631-1636
    • Donaldson, S.H.1    Boucher, R.C.2
  • 60
    • 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
  • 61
    • 2442718786 scopus 로고    scopus 로고
    • Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice
    • Mall M, Grubb BR, Harkema JR, et al. Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice. Nat Med 2004; 10:487-93.
    • (2004) Nat Med , vol.10 , pp. 487-493
    • Mall, M.1    Grubb, B.R.2    Harkema, J.R.3
  • 62
    • 27944483003 scopus 로고    scopus 로고
    • Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome
    • Sheridan MB, Fong P, Groman JD, et al. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet 2005;14:3493-8.
    • (2005) Hum Mol Genet , vol.14 , pp. 3493-3498
    • Sheridan, M.B.1    Fong, P.2    Groman, J.D.3
  • 63
    • 38049107224 scopus 로고    scopus 로고
    • ENaCbeta and gamma genes as modifier genes in cystic fibrosis
    • Viel M, Leroy C, Hubert D, et al. ENaCbeta and gamma genes as modifier genes in cystic fibrosis. J Cyst Fibros 2008;7:23-9.
    • (2008) J Cyst Fibros , vol.7 , pp. 23-29
    • Viel, M.1    Leroy, C.2    Hubert, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.