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Volumn 9, Issue 2, 2014, Pages

A little CFTR goes a long way: CFTR-dependent sweat secretion from G551D and R117H-5T cystic fibrosis subjects taking ivacaftor

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; IVACAFTOR; PROTEIN;

EID: 84895543366     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0088564     Document Type: Article
Times cited : (46)

References (38)
  • 1
    • 84885022205 scopus 로고    scopus 로고
    • Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
    • Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, et al. (2013) Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet.
    • (2013) Nat Genet
    • Sosnay, P.R.1    Siklosi, K.R.2    Van Goor, F.3    Kaniecki, K.4    Yu, H.5
  • 3
    • 73249114731 scopus 로고    scopus 로고
    • Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
    • Van Goor F, Hadida S, Grootenhuis PD, Burton B, Cao D, et al. (2009) Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci U S A 106: 18825-18830.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 18825-18830
    • Van Goor, F.1    Hadida, S.2    Grootenhuis, P.D.3    Burton, B.4    Cao, D.5
  • 4
    • 78549279173 scopus 로고    scopus 로고
    • Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation
    • Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, et al. (2010) Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med 363: 1991-2003.
    • (2010) N Engl J Med , vol.363 , pp. 1991-2003
    • Accurso, F.J.1    Rowe, S.M.2    Clancy, J.P.3    Boyle, M.P.4    Dunitz, J.M.5
  • 6
    • 84875418063 scopus 로고    scopus 로고
    • Ivacaftor potentiates multiple mutant cystic fibrosis transconductance regulator (CFTR) forms
    • Van Goor F, Yu H, Burton B, Huang C, Hoffman B (2012) Ivacaftor potentiates multiple mutant cystic fibrosis transconductance regulator (CFTR) forms. Pediatr Pulmonol 47: 233.
    • (2012) Pediatr Pulmonol , vol.47 , pp. 233
    • Van Goor, F.1    Yu, H.2    Burton, B.3    Huang, C.4    Hoffman, B.5
  • 8
    • 80053604911 scopus 로고    scopus 로고
    • Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: Significant association with MUC5AC
    • Guo X, Pace RG, Stonebraker JR, Commander CW, Dang AT, et al. (2011) Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: significant association with MUC5AC. PLoS One 6: e25452.
    • (2011) PLoS One , vol.6
    • Guo, X.1    Pace, R.G.2    Stonebraker, J.R.3    Commander, C.W.4    Dang, A.T.5
  • 9
    • 0028218460 scopus 로고
    • Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype
    • Veeze HJ, Halley DJ, Bijman J, de Jongste JC, de Jonge HR, et al. (1994) Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype. The Journal of clinical investigation 93: 461-466.
    • (1994) The Journal of Clinical Investigation , vol.93 , pp. 461-466
    • Veeze, H.J.1    Halley, D.J.2    Bijman, J.3    De Jongste, J.C.4    De Jonge, H.R.5
  • 10
    • 84886248186 scopus 로고    scopus 로고
    • In Vivo Readout of CFTR Function: Ratiometric Measurement of CFTR-Dependent Secretion by Individual, Identifiable Human Sweat Glands
    • Wine JJ, Char JE, Chen J, Cho HJ, Dunn C, et al. (2013) In Vivo Readout of CFTR Function: Ratiometric Measurement of CFTR-Dependent Secretion by Individual, Identifiable Human Sweat Glands. PLoS One 8: e77114.
    • (2013) PLoS One , vol.8
    • Wine, J.J.1    Char, J.E.2    Chen, J.3    Cho, H.J.4    Dunn, C.5
  • 11
    • 0000664823 scopus 로고
    • Some organic digestive disturbances in early life
    • Farber S (1945) Some organic digestive disturbances in early life. J Mich Med Soc 44: 587.
    • (1945) J Mich Med Soc , vol.44 , pp. 587
    • Farber, S.1
  • 12
    • 0027408231 scopus 로고
    • - channels with altered pore properties
    • DOI 10.1038/362160a0
    • Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, et al. (1993) Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. Nature 362: 160-164. (Pubitemid 23085256)
    • (1993) Nature , vol.362 , Issue.6416 , pp. 160-164
    • Sheppard, D.N.1    Rich, D.P.2    Ostedgaard, L.S.3    Gregory, R.J.4    Smith, A.E.5    Welsh, M.J.6
  • 13
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • DOI 10.1038/ng0293-151
    • Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 3: 151-156. (Pubitemid 23079798)
    • (1993) Nature Genetics , vol.3 , Issue.2 , pp. 151-156
    • Chu, C.-S.1    Trapnell, B.C.2    Curristin, S.3    Cutting, G.R.4    Crystal, R.G.5
  • 14
    • 84875048537 scopus 로고    scopus 로고
    • Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle
    • Jih KY, Hwang TC (2013) Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle. Proc Natl Acad Sci U S A 110: 4404-4409.
    • (2013) Proc Natl Acad Sci U S a , vol.110 , pp. 4404-4409
    • Jih, K.Y.1    Hwang, T.C.2
  • 15
    • 33947725805 scopus 로고    scopus 로고
    • G551D and G1349D, two CF-associated mutations in the signature sequences of CFTR, exhibit distinct gating defects
    • DOI 10.1085/jgp.200609667
    • Bompadre SG, Sohma Y, Li M, Hwang TC (2007) G551D and G1349D, two CF-associated mutations in the signature sequences of CFTR, exhibit distinct gating defects. J Gen Physiol 129: 285-298. (Pubitemid 46506980)
    • (2007) Journal of General Physiology , vol.129 , Issue.4 , pp. 285-298
    • Bompadre, S.G.1    Sohma, Y.2    Li, M.3    Hwang, T.-C.4
  • 16
    • 78651035407 scopus 로고
    • Physiology of the sweat gland in cystic fibrosis of the pancreas
    • Cooke RE, Gochberg SH (1956) Physiology of the sweat gland in cystic fibrosis of the pancreas. Pediatrics 18: 701-715.
    • (1956) Pediatrics , vol.18 , pp. 701-715
    • Cooke, R.E.1    Gochberg, S.H.2
  • 19
    • 0029060107 scopus 로고
    • A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease
    • Champigny G, Imler JL, Puchelle E, Dalemans W, Gribkoff V, et al. (1995) A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease. EMBO J 14: 2417-2423.
    • (1995) EMBO J , vol.14 , pp. 2417-2423
    • Champigny, G.1    Imler, J.L.2    Puchelle, E.3    Dalemans, W.4    Gribkoff, V.5
  • 20
    • 0030749512 scopus 로고    scopus 로고
    • Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease
    • DOI 10.1002/(SICI)1098-1004(1997)10:2<108::AID-HUM
    • Friedman KJ, Heim RA, Knowles MR, Silverman LM (1997) Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. Hum Mutat 10: 108-115. (Pubitemid 27327485)
    • (1997) Human Mutation , vol.10 , Issue.2 , pp. 108-115
    • Friedman, K.J.1    Heim, R.A.2    Knowles, M.R.3    Silverman, L.M.4
  • 22
    • 0023616360 scopus 로고
    • Hyposecretion of beta-adrenergically induced sweating in cystic fibrosis heterozygotes
    • Behm JK, Hagiwara G, Lewiston NJ, Quinton PM, Wine JJ (1987) Hyposecretion of beta-adrenergically induced sweating in cystic fibrosis heterozygotes. Pediatr Res 22: 271-276. (Pubitemid 17162787)
    • (1987) Pediatric Research , vol.22 , Issue.3 , pp. 271-276
    • Behm, J.K.1    Hagiwara, G.2    Lewiston, N.J.3    Quinton, P.M.4    Wine, J.J.5
  • 24
    • 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 LC, Corey M, et al. (1995) Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr 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
  • 25
    • 0023730817 scopus 로고
    • Failure to induce secretion in jejunal biopsies from children with cystic fibrosis
    • Taylor CJ, Baxter PS, Hardcastle J, Hardcastle PT (1988) Failure to induce secretion in jejunal biopsies from children with cystic fibrosis. Gut 29: 957-962.
    • (1988) Gut , vol.29 , pp. 957-962
    • Taylor, C.J.1    Baxter, P.S.2    Hardcastle, J.3    Hardcastle, P.T.4
  • 27
    • 0026047787 scopus 로고
    • Chloride transport in the cystic fibrosis enterocyte
    • discussion 294-286
    • Bijman J, Veeze H, Kansen M, Tilly B, Scholte B, et al. (1991) Chloride transport in the cystic fibrosis enterocyte. Adv Exp Med Biol 290: 287-294; discussion 294-286.
    • (1991) Adv Exp Med Biol , vol.290 , pp. 287-294
    • Bijman, J.1    Veeze, H.2    Kansen, M.3    Tilly, B.4    Scholte, B.5
  • 29
    • 77956354814 scopus 로고    scopus 로고
    • Hyposecretion of fluid from tracheal submucosal glands of CFTR-deficient pigs
    • Joo NS, Cho HJ, Khansaheb M, Wine JJ (2010) Hyposecretion of fluid from tracheal submucosal glands of CFTR-deficient pigs. J Clin Invest 120: 3161-3166.
    • (2010) J Clin Invest , vol.120 , pp. 3161-3166
    • Joo, N.S.1    Cho, H.J.2    Khansaheb, M.3    Wine, J.J.4
  • 30
    • 80052323522 scopus 로고    scopus 로고
    • Defective fluid secretion from submucosal glands of nasal turbinates from CFTR 2/2 and CFTR (DeltaF508/DeltaF508) pigs
    • Cho HJ, Joo NS, Wine JJ (2011) Defective fluid secretion from submucosal glands of nasal turbinates from CFTR 2/2 and CFTR (DeltaF508/DeltaF508) pigs. PloS one 6: e24424.
    • (2011) PloS One , vol.6
    • Cho, H.J.1    Joo, N.S.2    Wine, J.J.3
  • 31
    • 77956379893 scopus 로고    scopus 로고
    • Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis
    • Sun X, Sui H, Fisher JT, Yan Z, Liu X, et al. (2010) Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis. J Clin Invest 120: 3149-3160.
    • (2010) J Clin Invest , vol.120 , pp. 3149-3160
    • Sun, X.1    Sui, H.2    Fisher, J.T.3    Yan, Z.4    Liu, X.5
  • 32
    • 84881253530 scopus 로고    scopus 로고
    • Role of tyrosine phosphorylation in the muscarinic activation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR)
    • Billet A, Luo Y, Balghi H, Hanrahan JW (2013) Role of tyrosine phosphorylation in the muscarinic activation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). J Biol Chem.
    • (2013) J Biol Chem
    • Billet, A.1    Luo, Y.2    Balghi, H.3    Hanrahan, J.W.4
  • 33
    • 77955113473 scopus 로고    scopus 로고
    • CFTR-adenylyl cyclase I association responsible for UTP activation of CFTR in well-differentiated primary human bronchial cell cultures
    • Namkung W, Finkbeiner WE, Verkman AS (2010) CFTR-adenylyl cyclase I association responsible for UTP activation of CFTR in well-differentiated primary human bronchial cell cultures. Mol Biol Cell 21: 2639-2648.
    • (2010) Mol Biol Cell , vol.21 , pp. 2639-2648
    • Namkung, W.1    Finkbeiner, W.E.2    Verkman, A.S.3
  • 34
    • 0025266584 scopus 로고
    • A statistical model for the "N-of-1" study
    • Rochon J (1990) A statistical model for the "N-of-1" study. Journal of clinical epidemiology 43: 499-508.
    • (1990) Journal of Clinical Epidemiology , vol.43 , pp. 499-508
    • Rochon, J.1
  • 38
    • 84862770787 scopus 로고    scopus 로고
    • Role of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in patients with chronic sinopulmonary disease
    • Gonska T, Choi P, Stephenson A, Ellis L, Martin S, et al. (2012) Role of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in patients with chronic sinopulmonary disease. Chest 142: 996-1004.
    • (2012) Chest , vol.142 , pp. 996-1004
    • Gonska, T.1    Choi, P.2    Stephenson, A.3    Ellis, L.4    Martin, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.