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Volumn 349, Issue 10, 2003, Pages 969-974

Genomic medicine: Genomics as a probe for disease biology

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; DYSTROPHIN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0041830430     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMra012479     Document Type: Review
Times cited : (60)

References (56)
  • 2
    • 0028078717 scopus 로고
    • Hemophilia A
    • Hoyer LW. Hemophilia A. N Engl J Med 1994;330:38-47.
    • (1994) N Engl J Med , vol.330 , pp. 38-47
    • Hoyer, L.W.1
  • 3
    • 0034124571 scopus 로고    scopus 로고
    • Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIIl (recombinate)
    • Goodeve AC, Williams I, Bray GL, Peake IR. Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIIl (Recombinate). Thromb Haemost 2000;83:844-8.
    • (2000) Thromb Haemost , vol.83 , pp. 844-848
    • Goodeve, A.C.1    Williams, I.2    Bray, G.L.3    Peake, I.R.4
  • 4
    • 0036087342 scopus 로고    scopus 로고
    • Function and genetics of dystrophin and dystrophin-related proteins in muscle
    • Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002;82:291-329.
    • (2002) Physiol Rev , vol.82 , pp. 291-329
    • Blake, D.J.1    Weir, A.2    Newey, S.E.3    Davies, K.E.4
  • 6
    • 0030920253 scopus 로고    scopus 로고
    • Dystrophinopathy, the expanding phenotype: Dystrophin abnormalities in X-linked dilated cardiomyopathy
    • Beggs AH. Dystrophinopathy, the expanding phenotype: dystrophin abnormalities in X-linked dilated cardiomyopathy. Circulation 1997;95:2344-7.
    • (1997) Circulation , vol.95 , pp. 2344-2347
    • Beggs, A.H.1
  • 8
    • 0030050973 scopus 로고    scopus 로고
    • Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
    • Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-95.
    • (1996) Nat Genet , vol.13 , pp. 189-195
    • Johnson, D.W.1    Berg, J.N.2    Baldwin, M.A.3
  • 9
    • 0028171579 scopus 로고
    • Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
    • McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-51.
    • (1994) Nat Genet , vol.8 , pp. 345-351
    • McAllister, K.A.1    Grogg, K.M.2    Johnson, D.W.3
  • 10
    • 0031718588 scopus 로고    scopus 로고
    • Clinical implications of cystic fibrosis transmembrane conductance regulator mutations
    • Mickle JE, Cutting GR. Clinical implications of cystic fibrosis transmembrane conductance regulator mutations. Clin Chest Med 1998;19:443-58.
    • (1998) Clin Chest Med , vol.19 , pp. 443-458
    • Mickle, J.E.1    Cutting, G.R.2
  • 11
    • 0034109607 scopus 로고    scopus 로고
    • Genotype and phenotype in cystic fibrosis
    • Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67:117-33.
    • (2000) Respiration , vol.67 , pp. 117-133
    • Zielenski, J.1
  • 12
    • 0029003982 scopus 로고
    • A cystic fibrosis mutation associated with mild lung disease
    • Gan K-H, Veeze HJ, van den Ouweland AMW, et al. A cystic fibrosis mutation associated with mild lung disease. N Engl J Med 1995;333:95-9.
    • (1995) N Engl J Med , vol.333 , pp. 95-99
    • Gan, K.-H.1    Veeze, H.J.2    Van den Ouweland, A.M.W.3
  • 13
    • 0031456275 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation
    • De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G. Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation. Hum Genet 1997;101:208-11.
    • (1997) Hum Genet , vol.101 , pp. 208-211
    • De Braekeleer, M.1    Allard, C.2    Leblanc, J.P.3    Simard, F.4    Aubin, G.5
  • 14
    • 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. N Engl J Med 1993;329:1308-13.
    • (1993) N Engl J Med , vol.329 , pp. 1308-1313
  • 15
    • 0025011995 scopus 로고
    • Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis
    • Santis G, Osbome L, Knight RA, Hodson ME. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis. Lancet 1990;336:1081-4.
    • (1990) Lancet , vol.336 , pp. 1081-1084
    • Santis, G.1    Osbome, L.2    Knight, R.A.3    Hodson, M.E.4
  • 16
    • 0026783823 scopus 로고
    • Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations
    • Burke W, Aitken ML, Chen SH, Scott CR. Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations. Chest 1992;102:506-9.
    • (1992) Chest , vol.102 , pp. 506-509
    • Burke, W.1    Aitken, M.L.2    Chen, S.H.3    Scott, C.R.4
  • 17
    • 0032695668 scopus 로고    scopus 로고
    • Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis
    • Garred P, Pressler T, Madsen HO, et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest 1999;104:431-7.
    • (1999) J Clin Invest , vol.104 , pp. 431-437
    • Garred, P.1    Pressler, T.2    Madsen, H.O.3
  • 18
    • 13344282728 scopus 로고    scopus 로고
    • Modulation ofdisease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
    • Erratum, Nat Genet 1996;13:129
    • Rozmahel R, Wilschanski M, Matin A, et al. Modulation ofdisease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 1996;12:280-7. [Erratum, Nat Genet 1996;13:129.]
    • (1996) Nat Genet , vol.12 , pp. 280-287
    • Rozmahel, R.1    Wilschanski, M.2    Matin, A.3
  • 19
    • 0037157787 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes
    • Salvatore F, Scudiero O, Castaldo G. Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet 2002;111:88-95.
    • (2002) Am J Med Genet , vol.111 , pp. 88-95
    • Salvatore, F.1    Scudiero, O.2    Castaldo, G.3
  • 20
    • 0037208909 scopus 로고    scopus 로고
    • Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs
    • Mekus F, Laabs U, Veeze H, Tummler B. Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs. Hum Genet 2003;112:1-11.
    • (2003) Hum Genet , vol.112 , pp. 1-11
    • Mekus, F.1    Laabs, U.2    Veeze, H.3    Tummler, B.4
  • 21
    • 0033028607 scopus 로고    scopus 로고
    • Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
    • Zielenski J, Corey M, Rozmahel R, et al. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet 1999;22:128-9.
    • (1999) Nat Genet , vol.22 , pp. 128-129
    • Zielenski, J.1    Corey, M.2    Rozmahel, R.3
  • 22
    • 0026556587 scopus 로고
    • Association ofpoor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the F508 deletion
    • Campbell PW III, Parker RA, Roberts BT, Krishnamani MR Phillips JA III. Association ofpoor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the F508 deletion. J Pediatr 1992;120:261-4.
    • (1992) J Pediatr , vol.120 , pp. 261-264
    • Campbell P.W. III1    Parker, R.A.2    Roberts, B.T.3    Krishnamani, M.R.4    Phillips J.A. III5
  • 23
    • 0033799531 scopus 로고    scopus 로고
    • Modifier genes convert "simple" Mendelian disorders to complex traits
    • Dipple KM, McCabe ER. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 2000;71: 43-50.
    • (2000) Mol Genet Metab , vol.71 , pp. 43-50
    • Dipple, K.M.1    McCabe, E.R.2
  • 24
    • 0030916094 scopus 로고    scopus 로고
    • Absence of health insurance is associated with decreased life expectancy in patients with cystic fibrosis
    • Curtis JR, Burke W, Kassner AW, Aitken ML. Absence of health insurance is associated with decreased life expectancy in patients with cystic fibrosis. Am J Respir Crit Care Med 1997;155:1921-4.
    • (1997) Am J Respir Crit Care Med , vol.155 , pp. 1921-1924
    • Curtis, J.R.1    Burke, W.2    Kassner, A.W.3    Aitken, M.L.4
  • 25
    • 0024590336 scopus 로고
    • Effects of social class, sex, and region of residence on age at death from cystic fibrosis
    • Britton JR. Effects of social class, sex, and region of residence on age at death from cystic fibrosis. BMJ 1989;298:483-7.
    • (1989) BMJ , vol.298 , pp. 483-487
    • Britton, J.R.1
  • 26
    • 1842339924 scopus 로고    scopus 로고
    • Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
    • Dork T, Dworniczak B, Aulehla-Scholz C, et al. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 1997;100:365-77.
    • (1997) Hum Genet , vol.100 , pp. 365-377
    • Dork, T.1    Dworniczak, B.2    Aulehla-Scholz, C.3
  • 27
    • 0035722764 scopus 로고    scopus 로고
    • 'CFTR-opathies': Disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
    • Noone PG, Knowles MR. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001;2:328-32.
    • (2001) Respir Res , vol.2 , pp. 328-332
    • Noone, P.G.1    Knowles, M.R.2
  • 28
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • Errata, Nature 2001;411:720, 412:565
    • Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921. [Errata, Nature 2001;411:720, 412:565.]
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1    Linton, L.M.2    Birren, B.3
  • 29
    • 0037421590 scopus 로고    scopus 로고
    • Pharmacogenomics - Drug disposition, drug targets, and side effects
    • Evans WE, McLeod HL. Pharmacogenomics - drug disposition, drug targets, and side effects. N Engl J Med 2003;348: 538-49.
    • (2003) N Engl J Med , vol.348 , pp. 538-549
    • Evans, W.E.1    McLeod, H.L.2
  • 30
    • 0037421584 scopus 로고    scopus 로고
    • Inheritance and drug response
    • Weinshilboum R. Inheritance and drug response. N Engl J Med 2003;348:529-37.
    • (2003) N Engl J Med , vol.348 , pp. 529-537
    • Weinshilboum, R.1
  • 31
    • 0033168459 scopus 로고    scopus 로고
    • Shattuck Lecture - Medical and societal consequences of the Human Genome Project
    • Collins FS. Shattuck Lecture - medical and societal consequences of the Human Genome Project. N Engl J Med 1999;341:28-37.
    • (1999) N Engl J Med , vol.341 , pp. 28-37
    • Collins, F.S.1
  • 32
    • 0034178262 scopus 로고    scopus 로고
    • Sickle hemoglobin (HbS) allele and sickle cell disease: A HuGE review
    • Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Am J Epidemiol 2000;151:839-45.
    • (2000) Am J Epidemiol , vol.151 , pp. 839-845
    • Ashley-Koch, A.1    Yang, Q.2    Olney, R.S.3
  • 33
    • 0037079943 scopus 로고    scopus 로고
    • Influence of interleukin-1 receptor antagonist gene polymorphism on disease
    • Witkin SS, Gerber S, Ledger WJ. Influence of interleukin-1 receptor antagonist gene polymorphism on disease. Clin Infect Dis 2002;34:204-9.
    • (2002) Clin Infect Dis , vol.34 , pp. 204-209
    • Witkin, S.S.1    Gerber, S.2    Ledger, W.J.3
  • 34
    • 0035107139 scopus 로고    scopus 로고
    • Interactions between genes and environment in the development of asthma
    • Patino CM, Martinez FD. Interactions between genes and environment in the development of asthma. Allergy 2001;56:279-86.
    • (2001) Allergy , vol.56 , pp. 279-286
    • Patino, C.M.1    Martinez, F.D.2
  • 37
    • 0036128210 scopus 로고    scopus 로고
    • Asthma genetics
    • Cookson WO. Asthma genetics. Chest 2002;121:Suppl:7S-13S.
    • (2002) Chest , vol.121
    • Cookson, W.O.1
  • 38
    • 0034981949 scopus 로고    scopus 로고
    • Current concepts of the genetics of asthma
    • Hakonarson H, Wjst M. Current concepts of the genetics of asthma. Curr Opin Pediatr 2001;13:267-77.
    • (2001) Curr Opin Pediatr , vol.13 , pp. 267-277
    • Hakonarson, H.1    Wjst, M.2
  • 39
    • 0037173639 scopus 로고    scopus 로고
    • Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness
    • Van Eerdewegh P, Little RD, Dupuis J, et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;418:426-30.
    • (2002) Nature , vol.418 , pp. 426-430
    • Van Eerdewegh, P.1    Little, R.D.2    Dupuis, J.3
  • 40
    • 0037136569 scopus 로고    scopus 로고
    • ADAM-33 surfaces as an asthma gene
    • Shapiro SD, Owen CA. ADAM-33 surfaces as an asthma gene. N Engl J Med 2002; 347:936-8.
    • (2002) N Engl J Med , vol.347 , pp. 936-938
    • Shapiro, S.D.1    Owen, C.A.2
  • 41
    • 0031255154 scopus 로고    scopus 로고
    • Polymorphisms of the beta2-adrenergic receptor and asthma
    • Liggett SB. Polymorphisms of the beta2-adrenergic receptor and asthma. Am J Respir Crit Care Med 1997;156:S156-S162
    • (1997) Am J Respir Crit Care Med , vol.156
    • Liggett, S.B.1
  • 42
    • 0034881918 scopus 로고    scopus 로고
    • New insights into the role of cytokines in asthma
    • Renauld JC. New insights into the role of cytokines in asthma. J Clin Pathol 2001; 54:577-89.
    • (2001) J Clin Pathol , vol.54 , pp. 577-589
    • Renauld, J.C.1
  • 43
    • 0033946186 scopus 로고    scopus 로고
    • Polymorphisms at the glutathione S-transferase, GSTP1 locus: A novel mechanism for susceptibility and development of atopic airway inflammation
    • Spiteri MA, Bianco A, Strange RC, Fryer AA. Polymorphisms at the glutathione S-transferase, GSTP1 locus: a novel mechanism for susceptibility and development of atopic airway inflammation. Allergy 2000; 55:Suppl 6l:15-20.
    • (2000) Allergy , vol.55 , Issue.SUPPL. , pp. 15-20
    • Spiteri, M.A.1    Bianco, A.2    Strange, R.C.3    Fryer, A.A.4
  • 44
    • 0034982420 scopus 로고    scopus 로고
    • Association of asthma with beta(2)-adrenergic receptor gene polymorphism and cigarette smoking
    • Erratum, Am J Respir Crit Care Med 2002;166:775
    • Wang Z, Chen C, Niu T, et al. Association of asthma with beta(2)-adrenergic receptor gene polymorphism and cigarette smoking. Am J Respir Crit Care Med 2001; 163:1404-9. [Erratum, Am J Respir Crit Care Med 2002;166:775.]
    • (2001) Am J Respir Crit Care Med , vol.163 , pp. 1404-1409
    • Wang, Z.1    Chen, C.2    Niu, T.3
  • 45
    • 0031977774 scopus 로고    scopus 로고
    • Definition of asthma: Possible approaches in genetic studies
    • Postma DS, Meijer GG, Koppelman GH. Definition of asthma: possible approaches in genetic studies. Clin Exp Allergy 1998;28:Suppl 1:62-6.
    • (1998) Clin Exp Allergy , vol.28 , Issue.SUPPL. 1 , pp. 62-66
    • Postma, D.S.1    Meijer, G.G.2    Koppelman, G.H.3
  • 47
    • 0035060043 scopus 로고    scopus 로고
    • Severe asthma phenotypes: The case for more specificity
    • Ayres J. Severe asthma phenotypes: the case for more specificity J R Soc Med 2001; 94:115-8.
    • (2001) J R Soc Med , vol.94 , pp. 115-118
    • Ayres, J.1
  • 48
    • 0035719983 scopus 로고    scopus 로고
    • Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma
    • Palmer LJ, Cookson WO. Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma. Respir Res 2001;2:102-12.
    • (2001) Respir Res , vol.2 , pp. 102-112
    • Palmer, L.J.1    Cookson, W.O.2
  • 49
    • 0035659262 scopus 로고    scopus 로고
    • Association studies in asthma genetics
    • Weiss ST. Association studies in asthma genetics. Am J Respir Crit Care Med 2001; 165:2014-5.
    • (2001) Am J Respir Crit Care Med , vol.165 , pp. 2014-2015
    • Weiss, S.T.1
  • 50
    • 0037103172 scopus 로고    scopus 로고
    • Reporting, appraising, and integrating data on genotype prevalence and gene-disease associations
    • Little J, Bradley L, Bray MS, et al. Reporting, appraising, and integrating data on genotype prevalence and gene-disease associations. Am J Epidemiol 2002;156: 300-10.
    • (2002) Am J Epidemiol , vol.156 , pp. 300-310
    • Little, J.1    Bradley, L.2    Bray, M.S.3
  • 51
    • 0032067789 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases: An epidemiologic perspective
    • Khoury MJ, Yang Q. The future of genetic studies of complex human diseases: an epidemiologic perspective. Epidemiology 1998;9:350-4.
    • (1998) Epidemiology , vol.9 , pp. 350-354
    • Khoury, M.J.1    Yang, Q.2
  • 55
    • 0033576335 scopus 로고    scopus 로고
    • A post-genomic challenge: Learning to read patterns of protein synthesis
    • Abbott A. A post-genomic challenge: learning to read patterns of protein synthesis. Nature 1999;402:715-20.
    • (1999) Nature , vol.402 , pp. 715-720
    • Abbott, A.1
  • 56
    • 0032831070 scopus 로고    scopus 로고
    • Structural genomics: Beyond the human genome project
    • Burley SK, Almo SC, Bonanno JB, et al. Structural genomics: beyond the Human Genome Project. Nat Genet 1999;:151-7.
    • (1999) Nat Genet , pp. 151-157
    • Burley, S.K.1    Almo, S.C.2    Bonanno, J.B.3


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