메뉴 건너뛰기




Volumn 3, Issue 10, 2002, Pages 779-789

Beyond mendel: An evolving view of human genetic disease transmission

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0036787307     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg910     Document Type: Review
Times cited : (300)

References (124)
  • 1
    • 0033168957 scopus 로고    scopus 로고
    • Monogenic traits are not simple: Lessons from phenylketonuria
    • Scriver, C. R. & Waters, P. J. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 15, 267-272(1999).
    • (1999) Trends Genet. , vol.15 , pp. 267-272
    • Scriver, C.R.1    Waters, P.J.2
  • 2
    • 0033911995 scopus 로고    scopus 로고
    • Phenotypes of patients with 'simple' Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
    • Dipple, K. M. & McCabe, E. R. B. Phenotypes of patients with 'simple' Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66, 1729-1735 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1729-1735
    • Dipple, K.M.1    McCabe, E.R.B.2
  • 3
    • 0033799531 scopus 로고    scopus 로고
    • Modifier genes convert 'simple' Mendelian disorders to complex traits
    • Dipple, K. M. & McCabe, E. R. B. Modifier genes convert 'simple' Mendelian disorders to complex traits. Mol. Genet. Metab. 71, 43-50 (2000).
    • (2000) Mol. Genet. Metab. , vol.71 , pp. 43-50
    • Dipple, K.M.1    McCabe, E.R.B.2
  • 4
    • 0030078281 scopus 로고    scopus 로고
    • Is there a paradigm shift in genetics? Lessons from the study of human diseases
    • Weiss, K. M. Is there a paradigm shift in genetics? Lessons from the study of human diseases. Mol. Pnylogenet. Evol. 5, 259-265 (1996).
    • (1996) Mol. Pnylogenet. Evol. , vol.5 , pp. 259-265
    • Weiss, K.M.1
  • 5
    • 0001577381 scopus 로고
    • Phenylpyruvic oligophrenia def ciency of phenylalanine-oxidizing system
    • Jervis, G. A. Phenylpyruvic oligophrenia def ciency of phenylalanine-oxidizing system. Proc. Soc. Exp. Biol. Med. 82, 514-515 (1953).
    • (1953) Proc. Soc. Exp. Biol. Med. , vol.82 , pp. 514-515
    • Jervis, G.A.1
  • 6
    • 75449123150 scopus 로고
    • A simple phenylaanine method for detecting phenylketonuria in large populations of newborn infants
    • Guthrie, R. & Susi, A. A simple phenylaanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32, 335-343 (1963).
    • (1963) Pediatrics , vol.32 , pp. 335-343
    • Guthrie, R.1    Susi, A.2
  • 7
    • 0029809090 scopus 로고    scopus 로고
    • The introduction of newborn screening for phenylketonuria: A personal history
    • Guthrie, R. The introduction of newborn screening for phenylketonuria: a personal history. Eur. J. Pediat. 155, 4-5 (1996).
    • (1996) Eur. J. Pediat. , vol.155 , pp. 4-5
    • Guthrie, R.1
  • 8
    • 0028954664 scopus 로고
    • Whatever happened to PKU?
    • Scriver, C. R. Whatever happened to PKU? Clin. Biochem. 28, 137-144 (1995).
    • (1995) Clin. Biochem. , vol.28 , pp. 137-144
    • Scriver, C.R.1
  • 9
    • 0021072277 scopus 로고
    • Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria
    • Woo, S. L. C, Lidsky, A. S. Guttler, F., Chandra, D. & Robson, K. J.-I. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 306, 151-155 (1983).
    • (1983) Nature , vol.306 , pp. 151-155
    • Woo, S.L.C.1    Lidsky, A.S.2    Guttler, F.3    Chandra, D.4    Robson, K.J.-I.5
  • 10
    • 0002756708 scopus 로고
    • Tetrahydrobiopterin deficiency: From phenotype to genotype
    • Blau, N., Thony, B., Haizmann, C. W. & Dhondt, J.-L Tetrahydrobiopterin deficiency: from phenotype to genotype. Pteridines 4, 1-10 (1993).
    • (1993) Pteridines , vol.4 , pp. 1-10
    • Blau, N.1    Thony, B.2    Haizmann, C.W.3    Dhondt, J.-L.4
  • 11
    • 0032745696 scopus 로고    scopus 로고
    • Molecular correlations in phenylketonuria: Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population
    • Enns, G. M. et al. Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. Pedriatr. Res. 46, 594-602 (1999).
    • (1999) Pedriatr. Res. , vol.46 , pp. 594-602
    • Enns, G.M.1
  • 12
    • 0022350960 scopus 로고
    • Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
    • Tsui, L. C. et al. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230, 1054-1057 (1985).
    • (1985) Science , vol.230 , pp. 1054-1057
    • Tsui, L.C.1
  • 13
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan, J. R. et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245, 1066-1073 (1989).
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1
  • 14
    • 0035737072 scopus 로고    scopus 로고
    • Phenotype of of CF and the effects of possible modifier genes
    • Acton, J. D. & Wilmott, R. W. Phenotype of of CF and the effects of possible modifier genes. Pediatr. Respir. Rev. 2, 332-339 (2001).
    • (2001) Pediatr. Respir. Rev. , vol.2 , pp. 332-339
    • Acton, J.D.1    Wilmott, R.W.2
  • 15
    • 0035721749 scopus 로고    scopus 로고
    • Modifier genes and variation in cystic fibrosis
    • Drumm, M. L. Modifier genes and variation in cystic fibrosis Resp. Res, 2, 126-128 (2001).
    • (2001) Resp. Res. , vol.2 , pp. 126-128
    • Drumm, M.L.1
  • 16
    • 0034089406 scopus 로고    scopus 로고
    • Genotype-phenotype relationships in cystic fibrosis
    • Mickle, J. E. & Cutting, G. R. Genotype-phenotype relationships in cystic fibrosis, Med. Clin. N. Am. 84, 597-607(2000)
    • (2000) Med. Clin. N. Am. , vol.84 , pp. 597-607
    • Mickle, J.E.1    Cutting, G.R.2
  • 17
    • 0035287508 scopus 로고    scopus 로고
    • Modifier genes in mice and humans
    • Nadeau, J. H. Modifier genes in mice and humans Nature Rev. Genet. 2, 165-174 (2001).
    • (2001) Nature Rev. Genet. , vol.2 , pp. 165-174
    • Nadeau, J.H.1
  • 18
    • 0034109607 scopus 로고    scopus 로고
    • Genotype and phenotype in cystic fibrosis
    • Zielenski, J. Genotype and phenotype in cystic fibrosis. Respiration 67, 117-133 (2000).
    • (2000) Respiration , vol.67 , pp. 117-133
    • Zielenski, J.1
  • 19
    • 0033028607 scopus 로고    scopus 로고
    • Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
    • Zielenski, J. et al. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nature Genet, 22, 128-129 (1999).
    • (1999) Nature Genet , vol.22 , pp. 128-129
    • Zielenski, J.1
  • 20
    • 13344282728 scopus 로고    scopus 로고
    • Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
    • Rozmahel, R. et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nature Genet. 12, 280-287 (1996).
    • (1996) Nature Genet. , vol.12 , pp. 280-287
    • Rozmahel, R.1
  • 21
    • 0034102868 scopus 로고    scopus 로고
    • TGF-β(1) genotype and accelerated decline in lung function of patients with cystic fibrosis
    • Arkwright, P D. et al. TGF-β(1) genotype and accelerated decline in lung function of patients with cystic fibrosis. Thorax 55, 459-462 (2000).
    • (2000) Thorax , vol.55 , pp. 459-462
    • Arkwright, P.D.1
  • 22
    • 0031678410 scopus 로고    scopus 로고
    • Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis
    • Hull, J. & Thomson, A. H. Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis. Thorax 53, 1018-1021 (1998).
    • (1998) Thorax , vol.53 , pp. 1018-1021
    • Hull, J.1    Thomson, A.H.2
  • 23
    • 0032935226 scopus 로고    scopus 로고
    • HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype
    • Aron, Y. et al. HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype. Am. J. Respir. Crit. Care Med. 159, 1464-1468 (1999).
    • (1999) Am. J. Respir. Crit. Care Med. , vol.159 , pp. 1464-1468
    • Aron, Y.1
  • 24
    • 0032695668 scopus 로고    scopus 로고
    • Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis
    • Garred, P. et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J. Clin. Invest. 104, 431-437 (1999).
    • (1999) J. Clin. Invest. , vol.104 , pp. 431-437
    • Garred, P.1
  • 25
    • 0034523682 scopus 로고    scopus 로고
    • Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene
    • Grasemann, H. et al. Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene. Am. J. Respir Crit. Care Med. 162, 2172-2176 (2000).
    • (2000) Am. J. Respir Crit. Care Med. , vol.162 , pp. 2172-2176
    • Grasemann, H.1
  • 26
    • 0032533204 scopus 로고    scopus 로고
    • Cystic fibrosis mice lacking Muc 1 have reduced amounts of intestinal mucus
    • Parmley, R. R. & Gendler, S. J. Cystic fibrosis mice lacking Muc1 have reduced amounts of intestinal mucus. J. Clin. Invest. 102, 1798-1806 (1998).
    • (1998) J. Clin. Invest. , vol.102 , pp. 1798-1806
    • Parmley, R.R.1    Gendler, S.J.2
  • 27
    • 0034638436 scopus 로고    scopus 로고
    • Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population
    • Wang, X, et al. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 284, 1814-1819 (2000).
    • (2000) JAMA , vol.284 , pp. 1814-1819
    • Wang, X.1
  • 29
    • 85018123504 scopus 로고
    • Life's irreducible structure. Live mechanisms and information in DNA are boundary conditions with a sequence of boundaries above them
    • Pclanyi, M. Life's irreducible structure. Live mechanisms and information in DNA are boundary conditions with a sequence of boundaries above them. Science 160, 53-91 (1968).
    • (1968) Science , vol.160 , pp. 53-91
    • Pclanyi, M.1
  • 30
    • 0037177589 scopus 로고    scopus 로고
    • Maneuvering in the complex path from genotype to phenotype
    • Strohman, R. Maneuvering in the complex path from genotype to phenotype. Science 296, 701-703 (2002).
    • (2002) Science , vol.296 , pp. 701-703
    • Strohman, R.1
  • 31
    • 0037177552 scopus 로고    scopus 로고
    • Schizophrenia: Diverse approaches to a complex disease
    • An in-depth review of approaches to studying the pathogenesis of schizophrenia
    • Sawa, A. & Snyder, S. H. Schizophrenia: diverse approaches to a complex disease. Science 296, 692-695 (2002). An in-depth review of approaches to studying the pathogenesis of schizophrenia.
    • (2002) Science , vol.296 , pp. 692-695
    • Sawa, A.1    Snyder, S.H.2
  • 32
    • 0036163923 scopus 로고    scopus 로고
    • Familial amyotrophic lateral scloerosis
    • Hand, C. K. & Rouleau, G. A. Familial amyotrophic lateral scloerosis. Muscle Nerve 25, 135-159 (2002).
    • (2002) Muscle Nerve , vol.25 , pp. 135-159
    • Hand, C.K.1    Rouleau, G.A.2
  • 33
    • 0036235860 scopus 로고    scopus 로고
    • Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: Potential impact of CNTF as a candidate modifier gene
    • Giees, R. et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. Am. J. Hum. Genet. 70, 1277-1286 (2002).
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1277-1286
    • Giees, R.1
  • 34
    • 0028021552 scopus 로고
    • A null mutation in the human CNTF gene is not causally related to neurological diseases
    • Takahashi, R. et al. A null mutation in the human CNTF gene is not causally related to neurological diseases. Nature Genet. 7, 79-84 (1994)
    • (1994) Nature Genet. , vol.7 , pp. 79-84
    • Takahashi, R.1
  • 35
    • 0026562404 scopus 로고
    • A germ line mutation of the murine homolog of the APC gene causes multiple intestinal neoplasia
    • Su, L. K. et al. A germ line mutation of the murine homolog of the APC gene causes multiple intestinal neoplasia. Science 256, 668-670 (1992).
    • (1992) Science , vol.256 , pp. 668-670
    • Su, L.K.1
  • 36
    • 0026568524 scopus 로고
    • The Min (multiple intestinal neoplasia) mutation: Its effect on gut epithelial cell differentiation and interaction with a modifer system
    • Moser, A. R., Dove, W. F., Roth, K. A. & Gordon, J. I. The Min (multiple intestinal neoplasia) mutation: its effect on gut epithelial cell differentiation and interaction with a modifer system. J. Cell Biol. 116, 1517-1526 (1992).
    • (1992) J. Cell Biol. , vol.116 , pp. 1517-1526
    • Moser, A.R.1    Dove, W.F.2    Roth, K.A.3    Gordon, J.I.4
  • 37
    • 0025015168 scopus 로고
    • A dominant mutation that predisposes to multiple intestinal neoplasia in the mouse
    • Moser, A. R., Pitot, H. C. & Dove, W. F. A dominant mutation that predisposes to multiple intestinal neoplasia in the mouse, Science 247, 322-324 (1990).
    • (1990) Science , vol.247 , pp. 322-324
    • Moser, A.R.1    Pitot, H.C.2    Dove, W.F.3
  • 38
    • 0027363063 scopus 로고
    • Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse
    • Dietrich, W. F. et al. Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse Cell 75, 631-639 (1993).
    • (1993) Cell , vol.75 , pp. 631-639
    • Dietrich, W.F.1
  • 39
    • 0025627770 scopus 로고
    • Fat (fat) and Tubby (tub): Two autosomal recessive mutations causing obesity syndromes in the mouse
    • Coleman, D. L. & Eicher, E. M. Fat (fat) and Tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse. J. Hered. 81, 424-427 (1990).
    • (1990) J. Hered. , vol.81 , pp. 424-427
    • Coleman, D.L.1    Eicher, E.M.2
  • 41
    • 15844372440 scopus 로고    scopus 로고
    • Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family
    • Kleyn, P. W. et al. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell 85, 281-290 (1996).
    • (1996) Cell , vol.85 , pp. 281-290
    • Kleyn, P.W.1
  • 42
    • 0032833982 scopus 로고    scopus 로고
    • Genetic modification of hearing in tubby mice: Evidence for the existence of a major gene (Moth 1) which protects tubby mice from hearing loss
    • Ikeda, A. et al. Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (Moth 1) which protects tubby mice from hearing loss. Hum. Mol. Genet. 8, 1761-1767 (1999).
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1761-1767
    • Ikeda, A.1
  • 43
    • 0036544659 scopus 로고    scopus 로고
    • Microtubule-associated protein 1A is a modifier of tubby hearing (moth 1)
    • Ikeda, A. et al. Microtubule-associated protein 1A is a modifier of tubby hearing (moth 1). Nature Genet. 30, 401-405 (2002).
    • (2002) Nature Genet. , vol.30 , pp. 401-405
    • Ikeda, A.1
  • 44
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and RCM1 loci
    • Kajiwara, K., Berson, E. L. & Dryja, T. P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and RCM1 loci. Science 264, 1604-1608 (1994).
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 45
    • 0037095736 scopus 로고    scopus 로고
    • Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns
    • Rivolta, C., Sharon, D., DeAngelis, M. M. & Dryja, T. P Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum. Mol. Genet. 11, 1219-1227 (2002).
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1219-1227
    • Rivolta, C.1    Sharon, D.2    DeAngelis, M.M.3    Dryja, T.P.4
  • 46
    • 0033822064 scopus 로고    scopus 로고
    • Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
    • Katsanis, N. et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genet. 26, 67-70 (2000).
    • (2000) Nature Genet. , vol.26 , pp. 67-70
    • Katsanis, N.1
  • 47
    • 0033812186 scopus 로고    scopus 로고
    • Mutations in MKKS cause Bardet-Biedl syndrome
    • Slavotinek, A. M. et al. Mutations in MKKS cause Bardet-Biedl syndrome Nature Genet. 26, 15-16 (2000)
    • (2000) Nature Genet. , vol.26 , pp. 15-16
    • Slavotinek, A.M.1
  • 48
    • 0035091950 scopus 로고    scopus 로고
    • Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS 6 and delineate the critical intervals of other loci
    • Bea es, P. L. et al. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am. J. Hum Genet. 68, 606-616 (2001).
    • (2001) Am. J. Hum Genet. , vol.68 , pp. 606-616
    • Beales, P.L.1
  • 49
    • 0035311942 scopus 로고    scopus 로고
    • Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
    • Nishimura, D. Y. et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2), Hum. Mol. Genet. 10, 865-874 (2001).
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 865-874
    • Nishimura, D.Y.1
  • 50
    • 0035929273 scopus 로고    scopus 로고
    • Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
    • Katsanis, N. et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293, 2255-2259 (2001).
    • (2001) Science , vol.293 , pp. 2255-2259
    • Katsanis, N.1
  • 51
    • 0036076138 scopus 로고    scopus 로고
    • Regression-based quantitative-trait-Locus mapping in the 21st century
    • Feingold, E. Regression-based quantitative-trait-Locus mapping in the 21st century. Am. J. Hum. Genet. 71, 217-222 (2002).
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 217-222
    • Feingold, E.1
  • 52
    • 0036260234 scopus 로고    scopus 로고
    • New strategies for identifying gene-gene interactions in hypertension
    • Moore, J. H. & Wilams, S. M. New strategies for identifying gene-gene interactions in hypertension. Ann. Med. 34, 88-95 (2002).
    • (2002) Ann. Med. , vol.34 , pp. 88-95
    • Moore, J.H.1    Wilams, S.M.2
  • 53
    • 26244454535 scopus 로고    scopus 로고
    • (eds Epstein, C., Erickson, R. & Wynshaw-Boris, A. (Oxford Univ. Press. San Francisco, in the press)
    • McCallion, A. S. & Chakravarti, A. in Inborn Errors of Development (eds Epstein, C., Erickson, R. & Wynshaw-Boris, A. (Oxford Univ. Press. San Francisco, in the press).
    • Inborn Errors of Development
    • McCallion, A.S.1    Chakravarti, A.2
  • 54
    • 0028618372 scopus 로고
    • A missense mutation of the endothel n-B receptor gene in multigenic Hirschsprung's disease
    • Puffenberger, E. G. et al. A missense mutation of the endothel n-B receptor gene in multigenic Hirschsprung's disease. Cell 79, 1257-1266 (1994).
    • (1994) Cell , vol.79 , pp. 1257-1266
    • Puffenberger, E.G.1
  • 55
    • 0033739538 scopus 로고    scopus 로고
    • Genetics of Hirschsprung disease
    • Parisi, M. A. & Kapur, R. P. Genetics of Hirschsprung disease. Curr Opin. Pediatr. 12, 610-617 (2000).
    • (2000) Curr Opin. Pediatr. , vol.12 , pp. 610-617
    • Parisi, M.A.1    Kapur, R.P.2
  • 56
    • 0034764984 scopus 로고    scopus 로고
    • Hirschsprung disease, associated syndromes, and genetics: A review
    • Amiel, M. & Lyonett, S. Hirschsprung disease, associated syndromes, and genetics: a review. J. Med. Genet. 38, 729-739 (2001).
    • (2001) J. Med. Genet. , vol.38 , pp. 729-739
    • Amiel, M.1    Lyonett, S.2
  • 57
    • 0027219581 scopus 로고
    • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
    • Angrist, M. et al. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nature Genet. 3, 351-356 (1993).
    • (1993) Nature Genet. , vol.3 , pp. 351-356
    • Angrist, M.1
  • 58
    • 0027185569 scopus 로고
    • A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
    • Lyonnet, S. et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genet, 4, 346-350 (1993).
    • (1993) Nature Genet , vol.4 , pp. 346-350
    • Lyonnet, S.1
  • 59
    • 18544365991 scopus 로고    scopus 로고
    • Segregation at three loci explains familial and population risk in Hirschsprung disease
    • Bolk-Gabriel, S. B. et al. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nature Genet. 31, 89-93 (2002).
    • (2002) Nature Genet. , vol.31 , pp. 89-93
    • Bolk-Gabriel, S.B.1
  • 60
    • 0034602646 scopus 로고    scopus 로고
    • A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
    • Bolk, S. et al. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc. Natl Acad. Sci. USA 97, 268-273 (2000).
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 268-273
    • Bolk, S.1
  • 61
    • 0033365396 scopus 로고    scopus 로고
    • Digenic junctional epidermolysis bullosa: Mutations in COL 17A1 and LAMB3 genes
    • Floeth, M. & Bruckner-Tuderman, L Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Am. J. Hum. Genet. 65, 1530-1537 (1999).
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1530-1537
    • Floeth, M.1    Bruckner-Tuderman, L.2
  • 62
    • 0032015551 scopus 로고    scopus 로고
    • Positionally cloned gene for a novel glomerular protein nephrin is mutated in congenital nephrotic syndrome
    • Kestila, M. et al. Positionally cloned gene for a novel glomerular protein nephrin is mutated in congenital nephrotic syndrome, Mol. Cell 1, 575-582 (1998).
    • (1998) Mol. Cell , vol.1 , pp. 575-582
    • Kestila, M.1
  • 63
    • 0033855640 scopus 로고    scopus 로고
    • Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients
    • Patrakka, J. et al. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int. 58, 972-980 (2000).
    • (2000) Kidney Int. , vol.58 , pp. 972-980
    • Patrakka, J.1
  • 64
    • 0034034757 scopus 로고    scopus 로고
    • NPHS2, encoding the glomerular protein podoc n, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
    • Boute, N. et al. NPHS2, encoding the glomerular protein podoc n, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nature Genet. 24, 349-354 (2000).
    • (2000) Nature Genet. , vol.24 , pp. 349-354
    • Boute, N.1
  • 66
    • 0037084569 scopus 로고    scopus 로고
    • Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
    • Koziell, A. et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum. Mol. Genet, 11, 379-388 (2002).
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 379-388
    • Koziell, A.1
  • 67
    • 0034967274 scopus 로고    scopus 로고
    • Identification of the gene that, when mutated, causes the human obesity syndrome BBS 4
    • Mykytyn, K. et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genet. 28, 188-191 (2001).
    • (2001) Nature Genet. , vol.28 , pp. 188-191
    • Mykytyn, K.1
  • 68
    • 0036305311 scopus 로고    scopus 로고
    • BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
    • Katsanis, N. et al. BBS4 s a m nor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am. J. Hum. Genet. 71, 22-29 (2002)
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 22-29
    • Katsanis, N.1
  • 69
    • 14444283397 scopus 로고    scopus 로고
    • Identification of a gene that causes primary open angle glaucoma
    • Stone, E. M. et al. Identification of a gene that causes primary open angle glaucoma. Science 275, 668-670 (1997).
    • (1997) Science , vol.275 , pp. 668-670
    • Stone, E.M.1
  • 70
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three different truncating mutations in cytochrome P450B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC 3A locus on chromosome 2p21
    • Stolov, I., Akarsu, A. N. & Sarfarazl, M. Identification of three different truncating mutations in cytochrome P450B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Mol. Genet. 6, 641-647 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 641-647
    • Stolov, I.1    Akarsu, A.N.2    Sarfarazl, M.3
  • 71
    • 0344889215 scopus 로고    scopus 로고
    • Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
    • Fingert, J. H. et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum. Mol. Genet. 8, 899-905 (1999).
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 899-905
    • Fingert, J.H.1
  • 72
    • 0034639693 scopus 로고    scopus 로고
    • Multiple CYP 1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
    • Bejani, B. A. et al. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum. Mol. Genet. 12, 367-374 (2000).
    • (2000) Hum. Mol. Genet. , vol.12 , pp. 367-374
    • Bejani, B.A.1
  • 73
    • 17344362827 scopus 로고    scopus 로고
    • Mutations in CYP1B1, the gene for cytochrome P4501B 1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
    • Bejjani, B. A. et al. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am. J. Hum. Genet. 62, 325-333 (1998).
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 325-333
    • Bejjani, B.A.1
  • 74
    • 0036157114 scopus 로고    scopus 로고
    • Digenic inheritance of early-onset glaucoma: CYP1B 1, a potential modifier gene
    • Vincent, A. L. et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am. J Hum. Genet. 70, 448-460 (2002).
    • (2002) Am. J Hum. Genet. , vol.70 , pp. 448-460
    • Vincent, A.L.1
  • 75
    • 0034234293 scopus 로고    scopus 로고
    • Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: Association of polymorphisms with functional differences in hydrogen hydroxylation activity
    • Hanna, I. H., Dawling, S., Roodi, N., Guengerich, F. P. & Parl, F. F. Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in hydrogen hydroxylation activity. Cancer Res. 60, 3440-3444 (2000).
    • (2000) Cancer Res. , vol.60 , pp. 3440-3444
    • Hanna, I.H.1    Dawling, S.2    Roodi, N.3    Guengerich, F.P.4    Parl, F.F.5
  • 76
    • 0034743322 scopus 로고    scopus 로고
    • Specificity of 17b-oestradiol and benzo[a]pyrene oxidation by polymorphic human cytochrome P450B1 variants substituted at residues 48, 119 and 432
    • Shimada, T., Watanabe, J., Inoue, K., Guengerich, F. P. & Gillam, E. M. Specificity of 17b-oestradiol and benzo[a]pyrene oxidation by polymorphic human cytochrome P450B1 variants substituted at residues 48, 119 and 432. Xenobiotica 31, 163-176 (2001).
    • (2001) Xenobiotica , vol.31 , pp. 163-176
    • Shimada, T.1    Watanabe, J.2    Inoue, K.3    Guengerich, F.P.4    Gillam, E.M.5
  • 77
    • 0032867995 scopus 로고    scopus 로고
    • Catalytic properties of polymorphic human cytochrome P 450 1B1 variants
    • Shimada, T. et al. Catalytic properties of polymorphic human cytochrome P450 1B1 variants. Carcinogenesis 20, 1607-1613 (1999).
    • (1999) Carcinogenesis , vol.20 , pp. 1607-1613
    • Shimada, T.1
  • 78
    • 0034039377 scopus 로고    scopus 로고
    • Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol
    • Li, D. N., Seidel, A., Pritchard, M. P., Wolf, C. R & Friedberg, T. Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol. Pharmacogenetics 10, 343-353 (2000).
    • (2000) Pharmacogenetics , vol.10 , pp. 343-353
    • Li, D.N.1    Seidel, A.2    Pritchard, M.P.3    Wolf, C.R.4    Friedberg, T.5
  • 79
    • 0029942496 scopus 로고    scopus 로고
    • Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: Hydrodynamic evidence for a tetrameric quaternary structure
    • Goldberg, A. F. X. & Molday, R. S. Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure. Biochemistry 35, 6144-6149 (1996).
    • (1996) Biochemistry , vol.35 , pp. 6144-6149
    • Goldberg, A.F.X.1    Molday, R.S.2
  • 80
    • 0034106721 scopus 로고    scopus 로고
    • Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis
    • Clark, G. et al. Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis Nature Genet. 25, 67-73 (2000).
    • (2000) Nature Genet. , vol.25 , pp. 67-73
    • Clark, G.1
  • 81
    • 0024571803 scopus 로고
    • Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)
    • Travis, G. H., Brennan, M. B., Danielson, P. E., Kozak, C. A. & Sutcliffe, J. G. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 338, 70-73 (1989).
    • (1989) Nature , vol.338 , pp. 70-73
    • Travis, G.H.1    Brennan, M.B.2    Danielson, P.E.3    Kozak, C.A.4    Sutcliffe, J.G.5
  • 82
    • 0035933756 scopus 로고    scopus 로고
    • Molecular characterization of the peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa
    • Loewen, C. J., Moritz, O. L. & Molday, R. S. Molecular characterization of the peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. J. Biol. Chem. 276, 22388-22396 (2001).
    • (2001) J. Biol. Chem. , vol.276 , pp. 22388-22396
    • Loewen, C.J.1    Moritz, O.L.2    Molday, R.S.3
  • 83
    • 0030474177 scopus 로고    scopus 로고
    • Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1
    • Goldberg, A. F. & Molday, R. S. Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. Proc. Natl Acad. Sci. USA 93, 13726-13730 (1996).
    • (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 13726-13730
    • Goldberg, A.F.1    Molday, R.S.2
  • 84
    • 0035210324 scopus 로고    scopus 로고
    • Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin
    • Schwartz, K. et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. 108, 1621-1629 (2001).
    • (2001) J. Clin. Invest. , vol.108 , pp. 1621-1629
    • Schwartz, K.1
  • 85
    • 0030292383 scopus 로고    scopus 로고
    • Germline mutations in glial cell-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
    • Angrist, M., Bolk, S., Halushka, M., Lapchak, P. & Chakravarti, A. Germline mutations in glial cell-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nature Genet. 14, 341-344 (1996).
    • (1996) Nature Genet. , vol.14 , pp. 341-344
    • Angrist, M.1    Bolk, S.2    Halushka, M.3    Lapchak, P.4    Chakravarti, A.5
  • 86
    • 15844422453 scopus 로고    scopus 로고
    • GDNF signaling through the Ret receptor tyrosine kinase
    • Durbec, P. et al. GDNF signaling through the Ret receptor tyrosine kinase. Nature 381, 789-793 (1996).
    • (1996) Nature , vol.381 , pp. 789-793
    • Durbec, P.1
  • 87
    • 15844418441 scopus 로고    scopus 로고
    • Characterization of a multicomponent receptor for GDNF
    • Treanor, J. J. et al. Characterization of a multicomponent receptor for GDNF. Nature 382, 80-83 (1996).
    • (1996) Nature , vol.382 , pp. 80-83
    • Treanor, J.J.1
  • 88
    • 0038875342 scopus 로고    scopus 로고
    • Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand for Notch1
    • Li, L. et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nature Genet. 16, 243-251 (1997).
    • (1997) Nature Genet. , vol.16 , pp. 243-251
    • Li, L.1
  • 89
    • 0030914459 scopus 로고    scopus 로고
    • Mutations in the human Jagged 1 gene are responsible for Alagille syndrome
    • Oda, T. et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nature Genet. 16, 235-242 (1997).
    • (1997) Nature Genet. , vol.16 , pp. 235-242
    • Oda, T.1
  • 90
    • 0036339631 scopus 로고    scopus 로고
    • A mouse model for Alagille syndrome: Notch 2 as a genetic modifier of Jag1 haploinsufficiency
    • McCright, B., Lozier, J. & Grid ey, T. A mouse model for Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency. Development 129, 1075-1082 (2002).
    • (2002) Development , vol.129 , pp. 1075-1082
    • McCright, B.1    Lozier, J.2    Gridley, T.3
  • 91
    • 0035004372 scopus 로고    scopus 로고
    • Rules of nonallelic complementation at the synapse in Caenorhabditis elegans
    • Yook, K. J., Proulx, S. R. & Jorgensen, E. M. Rules of nonallelic complementation at the synapse in Caenorhabditis elegans. Genetics 158, 209-220 (2001).
    • (2001) Genetics , vol.158 , pp. 209-220
    • Yook, K.J.1    Proulx, S.R.2    Jorgensen, E.M.3
  • 92
    • 0024422560 scopus 로고
    • Interacting genes identify interacting proteins involved in microtubule function in Drosophila
    • Ful er, M. T. et al. Interacting genes identify interacting proteins involved in microtubule function in Drosophila. Cell Motil. Cytoskeleton 14,128-135 (1989).
    • (1989) Cell Motil. Cytoskeleton , vol.14 , pp. 128-135
    • Fuller, M.T.1
  • 93
    • 0024024370 scopus 로고
    • Unlinked noncomplementation: Isolation of new conditional-lethal mutations in each of the tubulin genes of Saccharomyces cerevisiae
    • Stearns, T. & Botstein, D. Unlinked noncomplementation: isolation of new conditional-lethal mutations in each of the tubulin genes of Saccharomyces cerevisiae Genetics 119, 249-260 (1988).
    • (1988) Genetics , vol.119 , pp. 249-260
    • Stearns, T.1    Botstein, D.2
  • 94
    • 0036501072 scopus 로고    scopus 로고
    • A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation la (CDG-la) caused by phosphomannomutase deficiency
    • Westphal, I. V. at al A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation la (CDG-la) caused by phosphomannomutase deficiency. Hum. Mol. Genet. 11, 599-604 (2002).
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 599-604
    • Westphal, I.V.1
  • 95
    • 0037050026 scopus 로고    scopus 로고
    • Functional organization of the yeast proteome by systematic analysis of protein complexes
    • Gavin, A. C. et al. Functional organization of the yeast proteome by systematic analysis of protein complexes. Nature 415, 41-47 (2002).
    • (2002) Nature , vol.415 , pp. 41-47
    • Gavin, A.C.1
  • 96
    • 0037050004 scopus 로고    scopus 로고
    • Systematic identification of protein complexes in Saccharomyces cerevisiae by mass spectrometry
    • Ho, Y. et al. Systematic identification of protein complexes in Saccharomyces cerevisiae by mass spectrometry. Nature 415, 180-183 (2002).
    • (2002) Nature , vol.415 , pp. 180-183
    • Ho, Y.1
  • 97
    • 0036089031 scopus 로고    scopus 로고
    • Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics
    • Scriver, C. R. Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. J. Pediatr. 140, 502-506 (2002).
    • (2002) J. Pediatr. , vol.140 , pp. 502-506
    • Scriver, C.R.1
  • 98
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • Allikmets, R. et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277, 1805-1807 (1997).
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1
  • 99
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor ce l-specific ATP-binding transporter gene (ABCP) is mutated in recessive Stargardt macular dystrophy
    • Allikmets, R. et al. A photoreceptor ce l-specific ATP-binding transporter gene (ABCP) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15, 236-246 (1997).
    • (1997) Nature Genet. , vol.15 , pp. 236-246
    • Allikmets, R.1
  • 100
    • 0033775698 scopus 로고    scopus 로고
    • Biochemical defects in ABCR protein variants associated with human retinopathies
    • Sun, H., Smallwood, P. M. & Nathans, J. Biochemical defects in ABCR protein variants associated with human retinopathies. Nature Genet. 26, 242-246 (2000).
    • (2000) Nature Genet. , vol.26 , pp. 242-246
    • Sun, H.1    Smallwood, P.M.2    Nathans, J.3
  • 101
    • 0035510172 scopus 로고    scopus 로고
    • Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
    • Shroyer, N. F., Lewis, R A., Yatsenko, A. N., Wensel, T. G. & Lupski, J. R. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum. Mol. Genet. 10, 2671-2678 (2001).
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2671-2678
    • Shroyer, N.F.1    Lewis, R.A.2    Yatsenko, A.N.3    Wensel, T.G.4    Lupski, J.R.5
  • 102
    • 0037165262 scopus 로고    scopus 로고
    • A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
    • del Castillo, I. et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N. Engl. J. Med. 346, 243-249 (2002).
    • (2002) N. Engl. J. Med. , vol.346 , pp. 243-249
    • Del Castillo, I.1
  • 103
    • 0033671717 scopus 로고    scopus 로고
    • Dominant modifier DFNM1 suppresses recessive deafness DFNB26
    • Riazuddin, S. et al. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nature Genet. 26, 431-434 (2000).
    • (2000) Nature Genet. , vol.26 , pp. 431-434
    • Riazuddin, S.1
  • 104
    • 0033365218 scopus 로고    scopus 로고
    • Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance
    • Adato, A. et al. Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am. J. Hum. Genet. 65, 261-265 (1999).
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 261-265
    • Adato, A.1
  • 105
    • 0032231413 scopus 로고    scopus 로고
    • Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family
    • Balciuniene, J. et al. Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family. Am. J. Hum. Genet. 63, 786-793 (1998).
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 786-793
    • Balciuniene, J.1
  • 106
    • 0030979154 scopus 로고    scopus 로고
    • Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
    • Morell, R. et al. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum. Mol. Genet. 6, 659-664 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 659-664
    • Morell, R.1
  • 107
    • 0028905205 scopus 로고
    • Mutations in the proteolytic enzyme Calpain 3 cause limb-girdle muscular dystrophy type 2A
    • Richard, I. et al. Mutations in the proteolytic enzyme Calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81, 27-40 (1995).
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1
  • 108
    • 0035880227 scopus 로고    scopus 로고
    • Fibrinogen Milano XII: A dysfunctional variant containing 2 amino acid substitutions, α-R16C and γ-G165R
    • Bolliger-Stucki B., Lord, S. T. & Furan, M. Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, α-R16C and γ-G165R. Blood 98, 351-357 (2001).
    • (2001) Blood , vol.98 , pp. 351-357
    • Bolliger-Stucki, B.1    Lord, S.T.2    Furan, M.3
  • 109
    • 0027510375 scopus 로고
    • Prospective analysis and classification of patients with cystinuria identified in a newborn screening program
    • Goodyer, P. R., Clow, C., Reade, T. & Girardin, C. Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. J. Pediatr. 122, 568-572 (1993).
    • (1993) J. Pediatr. , vol.122 , pp. 568-572
    • Goodyer, P.R.1    Clow, C.2    Reade, T.3    Girardin, C.4
  • 110
    • 0033784271 scopus 로고    scopus 로고
    • Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy
    • Kerst, B. et al. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy Neuromuscul. Disord. 10, 572-577 (2000).
    • (2000) Neuromuscul. Disord. , vol.10 , pp. 572-577
    • Kerst, B.1
  • 111
    • 0031595691 scopus 로고    scopus 로고
    • The APCl1307K allele and breast cancer risk
    • Redston, M et al. The APCl1307K allele and breast cancer risk. Nature Genet. 20, 13-14 (1998).
    • (1998) Nature Genet. , vol.20 , pp. 13-14
    • Redston, M.1
  • 112
    • 0031710558 scopus 로고    scopus 로고
    • Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
    • Schaf, J. M. et al. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nature Genet. 20, 83-86 (1998).
    • (1998) Nature Genet. , vol.20 , pp. 83-86
    • Schaf, J.M.1
  • 113
    • 13344268996 scopus 로고    scopus 로고
    • Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus
    • Phelan, C. M. et al. Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet. 12, 309-311 (1996).
    • (1996) Nature Genet. , vol.12 , pp. 309-311
    • Phelan, C.M.1
  • 114
    • 0033925280 scopus 로고    scopus 로고
    • A cholesterol-lowering gene maps to chromosome 13q
    • Knoblauch, H. et al. A cholesterol-lowering gene maps to chromosome 13q. Am. J. Hum. Genet. 66, 157-166 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 157-166
    • Knoblauch, H.1
  • 115
    • 0033754004 scopus 로고    scopus 로고
    • Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever
    • Cazeneuve, C. et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am. J. Hum. Genet. 67, 1136-1143 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1136-1143
    • Cazeneuve, C.1
  • 116
    • 0033911449 scopus 로고    scopus 로고
    • Candidate locus for a nuclear modifier gene for maternally inherited deafness
    • Bykhovskaya, Y. et al. Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am. J. Hum. Genet. 66, 1905-1910 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1905-1910
    • Bykhovskaya, Y.1
  • 117
    • 0034837773 scopus 로고    scopus 로고
    • MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations
    • Box, N. F. et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am. J. Hum. Genet. 69, 765-773 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 765-773
    • Box, N.F.1
  • 118
    • 0033365195 scopus 로고    scopus 로고
    • Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.-2-11.-1
    • Serte, A. L., Sousa, A. V., Steman, S., Pavanelo, R. C. & Passos-Bueno, M. R. Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11. -2-11.-1, Am. J. Hum. Genet. 65, 433-440 (1999).
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 433-440
    • Serte, A.L.1    Sousa, A.V.2    Steman, S.3    Pavanelo, R.C.4    Passos-Bueno, M.R.5
  • 119
    • 0023257218 scopus 로고
    • The effect of ABO blood group on the diagnosis of von Willebrand disease
    • Gill, J. C., Endres-Brooks, J., Bauer, P. J., Marks, W. J. J. & Montgomery, R. R. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 69, 1691-1695 (1987).
    • (1987) Blood , vol.69 , pp. 1691-1695
    • Gill, J.C.1    Endres-Brooks, J.2    Bauer, P.J.3    Marks, W.J.J.4    Montgomery, R.R.5
  • 120
    • 0033534406 scopus 로고    scopus 로고
    • Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase
    • Mohlke, K. L. et al. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell 96, 111-120 (1999).
    • (1999) Cell , vol.96 , pp. 111-120
    • Mohlke, K.L.1
  • 121
    • 0034744296 scopus 로고    scopus 로고
    • TGF-β1 promotes microglial amyloid-β clearance and reduces plaque burden in transgenic mice
    • Wyss-Coray, T. et al. TGF-β1 promotes microglial amyloid-β clearance and reduces plaque burden in transgenic mice. Nature Med. 7, 612-618 (2001).
    • (2001) Nature Med. , vol.7 , pp. 612-618
    • Wyss-Coray, T.1
  • 122
  • 123
    • 0030606299 scopus 로고    scopus 로고
    • Δ716 knockout mice by inhibition of cyclcoxygenase 2 (COX-2)
    • Δ716 knockout mice by inhibition of cyclcoxygenase 2 (COX-2). Cell 87, 803-809 (1996).
    • (1996) Cell , vol.87 , pp. 803-809
    • Oshima, M.1
  • 124
    • 0033803952 scopus 로고    scopus 로고
    • Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways
    • Vockley, J., Rinaldo, P., Bennett, M. J., Matern, D. & Vladutiu, G. D. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet, Metab. 71, 10-18 (2002).
    • (2002) Mol. Genet. Metab. , vol.71 , pp. 10-18
    • Vockley, J.1    Rinaldo, P.2    Bennett, M.J.3    Matern, D.4    Vladutiu, G.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.