메뉴 건너뛰기




Volumn 40, Issue 6, 2009, Pages 751-755

Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease

Author keywords

Chronic obstructive pulmonary disease; Elastin; Emphysema; Genetic polymorphism

Indexed keywords

DNA; ELASTIN;

EID: 66349100149     PISSN: 10441549     EISSN: None     Source Type: Journal    
DOI: 10.1165/rcmb.2008-0340OC     Document Type: Article
Times cited : (15)

References (44)
  • 2
    • 33745832657 scopus 로고    scopus 로고
    • Progress in chronic obstructive pulmonary disease genetics
    • DOI 10.1513/pats.200603-092AW
    • Silverman EK. Progress in chronic obstructive pulmonary disease genetics. Proc Am Thorac Soc 2006;3:405-408. (Pubitemid 44033353)
    • (2006) Proceedings of the American Thoracic Society , vol.3 , Issue.5 , pp. 405-408
    • Silverman, E.K.1
  • 4
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • DOI 10.1126/science.1099870
    • Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004;305:869-872. (Pubitemid 39038422)
    • (2004) Science , vol.305 , Issue.5685 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3    Marcel, Y.L.4    McPherson, R.5    Hobbs, H.H.6
  • 6
    • 0027984967 scopus 로고
    • Congenital cutis laxa with a dominant inheritance and early onset emphysema
    • Corbett E, Glaisyer H, Chan C, Madden B, Khaghani A, Yacoub M. Congenital cutis laxa with a dominant inheritance and early onset emphysema. Thorax 1994;49:836-837. (Pubitemid 24250247)
    • (1994) Thorax , vol.49 , Issue.8 , pp. 836-837
    • Corbett, E.1    Glaisyer, H.2    Chan, C.3    Madden, B.4    Khaghani, A.5    Yacoub, M.6
  • 7
    • 42949108200 scopus 로고    scopus 로고
    • Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene
    • Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A 2008;146A:977-983.
    • (2008) Am J Med Genet A , vol.146 A , pp. 977-983
    • Graul-Neumann, L.M.1    Hausser, I.2    Essayie, M.3    Rauch, A.4    Kraus, C.5
  • 8
    • 4544258054 scopus 로고    scopus 로고
    • A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa
    • DOI 10.1001/archderm.140.9.1135
    • Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrio A, Mila M. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol 2004;140:1135-1139. (Pubitemid 39223122)
    • (2004) Archives of Dermatology , vol.140 , Issue.9 , pp. 1135-1139
    • Rodriguez-Revenga, L.1    Iranzo, P.2    Badenas, C.3    Puig, S.4    Carrio, A.5    Mila, M.6
  • 9
    • 20544459503 scopus 로고    scopus 로고
    • Autosomal dominant cutis laxa with severe lung disease: Synthesis and matrix deposition of mutant tropoelastin
    • DOI 10.1111/j.0022-202X.2005.23758.x
    • Urban Z, Gao J, Pope FM, Davis EC. Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. J Invest Dermatol 2005;124:1193-1199. (Pubitemid 40847406)
    • (2005) Journal of Investigative Dermatology , vol.124 , Issue.6 , pp. 1193-1199
    • Urban, Z.1    Gao, J.2    Pope, F.M.3    Davis, E.C.4
  • 10
    • 33745845118 scopus 로고    scopus 로고
    • The stumbling block in lung repair of emphysema: Elastic fiber assembly
    • DOI 10.1513/pats.200601-009AW
    • Shifren A, Mecham RP. The stumbling block in lung repair of emphysema: elastic fiber assembly. Proc Am Thorac Soc 2006;3:428-433. (Pubitemid 44033358)
    • (2006) Proceedings of the American Thoracic Society , vol.3 , Issue.5 , pp. 428-433
    • Shifren, A.1    Mecham, R.P.2
  • 14
    • 0033380191 scopus 로고    scopus 로고
    • Rationale and design of the national emphysema treatment trial: A prospective randomized trial of lung volume reduction surgery
    • National Emphysema Treatment Trial Research Group. Rationale and design of the National Emphysema Treatment Trial: a prospective randomized trial of lung volume reduction surgery. Chest 1999;116:1750-1761. (Pubitemid 30012720)
    • (1999) Chest , vol.116 , Issue.6 , pp. 1750-1761
    • Piantadosi, S.1
  • 15
    • 0002907619 scopus 로고
    • The Normative Aging Study: An interdisciplinary and longitudinal study of health and aging
    • Bell B, Rose C, Damon H. The Normative Aging Study: an interdisciplinary and longitudinal study of health and aging. Aging Hum Dev 1972;3:5-17.
    • (1972) Aging Hum Dev , vol.3 , pp. 5-17
    • Bell, B.1    Rose, C.2    Damon, H.3
  • 17
    • 0029115814 scopus 로고
    • A prospective longitudinal study of methacholine airway responsiveness as a predictor of pulmonary-function decline: The Normative Aging Study
    • O'Connor GT, Sparrow D, Weiss ST. A prospective longitudinal study of methacholine airway responsiveness as a predictor of pulmonary-function decline: the Normative Aging Study. Am J Respir Crit Care Med 1995;152:87-92.
    • (1995) Am J Respir Crit Care Med , vol.152 , pp. 87-92
    • O'Connor, G.T.1    Sparrow, D.2    Weiss, S.T.3
  • 18
    • 0019457107 scopus 로고
    • Reference spirometric values using techniques and equipment that meet ATS recommendations
    • Crapo RO, Morris AH, Gardner RM. Reference spirometric values using techniques and equipment that meet ATS recommendations. Am Rev Respir Dis 1981;123:659-664. (Pubitemid 11117589)
    • (1981) American Review of Respiratory Disease , vol.123 , Issue.6 , pp. 659-664
    • Crapo, R.O.1    Morris, A.H.2    Gardner, R.M.3
  • 19
  • 20
    • 4644245816 scopus 로고    scopus 로고
    • Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis
    • DOI 10.1373/clinchem.2003.029751
    • Reed GH, Wittwer CT. Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clin Chem 2004;50:1748-1754. (Pubitemid 39298003)
    • (2004) Clinical Chemistry , vol.50 , Issue.10 , pp. 1748-1754
    • Reed, G.H.1    Wittwer, C.T.2
  • 21
    • 57149093280 scopus 로고    scopus 로고
    • High-resolution melting curve analysis of genomic and whole-genome amplified DNA
    • DOI 10.1373/clinchem.2008.109744
    • Cho MH, Ciulla D, Klanderman BJ, Raby BA, Silverman EK. High-resolution melting curve analysis of genomic and whole-genome amplified DNA. Clin Chem 2008;54:2055-2058. (Pubitemid 352774040)
    • (2008) Clinical Chemistry , vol.54 , Issue.12 , pp. 2055-2058
    • Cho, M.H.1    Ciulla, D.2    Klanderman, B.J.3    Raby, B.A.4    Silverman, E.K.5
  • 22
    • 0031978181 scopus 로고    scopus 로고
    • Base-calling of automated sequencer traces using Phred: II. Error probabilities
    • Ewing B, Green P. Base-calling of automated sequencer traces using Phred: II. Error probabilities. Genome Res 1998;8:186-194.
    • (1998) Genome Res , vol.8 , pp. 186-194
    • Ewing, B.1    Green, P.2
  • 23
    • 0031955518 scopus 로고    scopus 로고
    • Base-calling of automated sequencer traces using Phred: I. Accuracy assessment
    • Ewing B, Hillier L, Wendl MC, Green P. Base-calling of automated sequencer traces using Phred: I. Accuracy assessment. Genome Res 1998;8:175-185.
    • (1998) Genome Res , vol.8 , pp. 175-185
    • Ewing, B.1    Hillier, L.2    Wendl, M.C.3    Green, P.4
  • 24
    • 0031955116 scopus 로고    scopus 로고
    • Consed: A graphical tool for sequence finishing
    • Gordon D, Abajian C, Green P. Consed: a graphical tool for sequence finishing. Genome Res 1998;8:195-202. (Pubitemid 28177231)
    • (1998) Genome Research , vol.8 , Issue.3 , pp. 195-202
    • Gordon, D.1    Abajian, C.2    Green, P.3
  • 33
    • 34247340876 scopus 로고    scopus 로고
    • Genetic model testing and statistical power in population-based association studies of quantitative traits
    • DOI 10.1002/gepi.20217
    • Lettre G, Lange C, Hirschhorn JN. Genetic model testing and statistical power in population-based association studies of quantitative traits. Genet Epidemiol 2007;31:358-362. (Pubitemid 46642100)
    • (2007) Genetic Epidemiology , vol.31 , Issue.4 , pp. 358-362
    • Lettre, G.1    Lange, C.2    Hirschhorn, J.N.3
  • 35
    • 0030752982 scopus 로고    scopus 로고
    • Elastin: Genomic structure and point mutations in patients with supravalvular aortic stenosis
    • DOI 10.1093/hmg/6.7.1029
    • Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP. Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet 1997;6:1029-1036. (Pubitemid 27308386)
    • (1997) Human Molecular Genetics , vol.6 , Issue.7 , pp. 1029-1036
    • Tassabehji, M.1    Metcalfe, K.2    Donnai, D.3    Hurst, J.4    Reardon, W.5    Burch, M.6    Read, A.P.7
  • 39
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
    • DOI 10.1086/513473
    • Kryukov GV, Pennacchio LA, Sunyaev SR. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007;80:727-739. (Pubitemid 46564409)
    • (2007) American Journal of Human Genetics , vol.80 , Issue.4 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 42
    • 0035094764 scopus 로고    scopus 로고
    • Variation is the spice of life
    • DOI 10.1038/85776
    • Kruglyak L, Nickerson DA. Variation is the spice of life. Nat Genet 2001;27:234-236. (Pubitemid 32201838)
    • (2001) Nature Genetics , vol.27 , Issue.3 , pp. 234-236
    • Kruglyak, L.1    Nickerson, D.A.2
  • 43
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008;40:695-701.
    • (2008) Nat Genet , vol.40 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.