메뉴 건너뛰기




Volumn 16, Issue 1, 2013, Pages S16-S22

The Genetic Architecture of Alopecia Areata

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER;

EID: 84907227503     PISSN: 10870024     EISSN: 15291774     Source Type: Journal    
DOI: 10.1038/jidsymp.2013.5     Document Type: Review
Times cited : (24)

References (73)
  • 1
    • 85096988330 scopus 로고    scopus 로고
    • AARDA The Cost Burden of Autoimmune Disease: The Latest Front in the War on Healthcare Spending Available at: (accessed 2011)
    • AARDA (2011) The Cost Burden of Autoimmune Disease: The Latest Front in the War on Healthcare Spending Available at: http://www.aarda.org/pdf/cbad.pdf (accessed 2011).
    • (2011)
  • 2
    • 34147154100 scopus 로고    scopus 로고
    • Medical sequencing at the extremes of human body mass
    • Ahituv, N., Kavaslar, N., Schackwitz, W., et al. Medical sequencing at the extremes of human body mass. Am J Hum Genet 80 (2007), 779–791.
    • (2007) Am J Hum Genet , vol.80 , pp. 779-791
    • Ahituv, N.1    Kavaslar, N.2    Schackwitz, W.3
  • 3
    • 33745051114 scopus 로고    scopus 로고
    • High-density SNP analysis of 642 Caucasian families with rheumatoid arthritis identifies two new linkage regions on 11p12 and 2q33
    • Amos, C.I., Chen, W.V., Lee, A., et al. High-density SNP analysis of 642 Caucasian families with rheumatoid arthritis identifies two new linkage regions on 11p12 and 2q33. Genes Immun 7 (2006), 277–286.
    • (2006) Genes Immun , vol.7 , pp. 277-286
    • Amos, C.I.1    Chen, W.V.2    Lee, A.3
  • 4
    • 85096979338 scopus 로고    scopus 로고
    • Alopecia areata is associated with MICA and an extended HLA haplotype
    • Barahmani, N., de Andrade, M., Slusser, J., et al. Alopecia areata is associated with MICA and an extended HLA haplotype. J Am Acad Dermatol, 50, 2004, P93.
    • (2004) J Am Acad Dermatol , vol.50 , pp. P93
    • Barahmani, N.1    de Andrade, M.2    Slusser, J.3
  • 5
    • 0346656707 scopus 로고    scopus 로고
    • A genome scan in 260 inflammatory bowel disease-affected relative pairs
    • Barmada, M.M., Brant, S.R., Nicolae, D.L., et al. A genome scan in 260 inflammatory bowel disease-affected relative pairs. Inflamm Bowel Dis 10 (2004), 15–22.
    • (2004) Inflamm Bowel Dis , vol.10 , pp. 15-22
    • Barmada, M.M.1    Brant, S.R.2    Nicolae, D.L.3
  • 6
    • 84859105499 scopus 로고    scopus 로고
    • Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome
    • Cabral, R.M., Kurban, M., Wajid, M., et al. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics 99 (2012), 202–208.
    • (2012) Genomics , vol.99 , pp. 202-208
    • Cabral, R.M.1    Kurban, M.2    Wajid, M.3
  • 7
    • 33646364339 scopus 로고    scopus 로고
    • How NKG2D ligands trigger autoimmunity?
    • Caillat-Zucman, S., How NKG2D ligands trigger autoimmunity?. Hum Immunol 67 (2006), 204–207.
    • (2006) Hum Immunol , vol.67 , pp. 204-207
    • Caillat-Zucman, S.1
  • 8
    • 77952574849 scopus 로고    scopus 로고
    • Uncovering the roles of rare variants in common disease through whole-genome sequencing
    • Cirulli, E.T., Goldstein, D.B., Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev 11 (2010), 415–425.
    • (2010) Nat Rev , vol.11 , pp. 415-425
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 9
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • Cohen, J.C., Kiss, R.S., Pertsemlidis, A., et al. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305 (2004), 869–872.
    • (2004) Science , vol.305 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3
  • 10
    • 32444441330 scopus 로고    scopus 로고
    • Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
    • Cohen, J.C., Pertsemlidis, A., Fahmi, S., et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci USA 103 (2006), 1810–1815.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 1810-1815
    • Cohen, J.C.1    Pertsemlidis, A.2    Fahmi, S.3
  • 11
    • 71649086164 scopus 로고    scopus 로고
    • Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of diseases
    • Cooper, G.S., Bynum, M.L., Somers, E.C., Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of diseases. J Autoimmun 33 (2009), 197–207.
    • (2009) J Autoimmun , vol.33 , pp. 197-207
    • Cooper, G.S.1    Bynum, M.L.2    Somers, E.C.3
  • 12
    • 84874766852 scopus 로고    scopus 로고
    • Complex inheritance of melanoma and pigmentation of coat and skin in Grey horses
    • Curik, I., Druml, T., Seltenhammer, M., et al. Complex inheritance of melanoma and pigmentation of coat and skin in Grey horses. PLoS Genet, 9, 2013, e1003248.
    • (2013) PLoS Genet , vol.9 , pp. e1003248
    • Curik, I.1    Druml, T.2    Seltenhammer, M.3
  • 14
    • 0033514465 scopus 로고    scopus 로고
    • Enhancing versus suppressive effects of stress hormones on skin immune function
    • Dhabhar, F.S., McEwen, B.S., Enhancing versus suppressive effects of stress hormones on skin immune function. Proc Natl Acad Sci USA 96 (1999), 1059–1064.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 1059-1064
    • Dhabhar, F.S.1    McEwen, B.S.2
  • 15
    • 84872323563 scopus 로고    scopus 로고
    • Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis
    • Diogo, D., Kurreeman, F., Stahl, E.A., et al. Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis. Am J Hum Genet 92 (2013), 15–27.
    • (2013) Am J Hum Genet , vol.92 , pp. 15-27
    • Diogo, D.1    Kurreeman, F.2    Stahl, E.A.3
  • 16
    • 80051831092 scopus 로고    scopus 로고
    • Computational repositioning of the anticonvulsant topiramate for inflammatory bowel disease
    • Dudley, J.T., Sirota, M., Shenoy, M., et al. Computational repositioning of the anticonvulsant topiramate for inflammatory bowel disease. Sci Transl Med, 3, 2011, 96ra76.
    • (2011) Sci Transl Med , vol.3 , pp. 96ra76
    • Dudley, J.T.1    Sirota, M.2    Shenoy, M.3
  • 17
    • 77955081986 scopus 로고    scopus 로고
    • Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial Hirschsprung disease liability
    • Emison, E.S., Garcia-Barcelo, M., Grice, E.A., et al. Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet 87 (2010), 60–74.
    • (2010) Am J Hum Genet , vol.87 , pp. 60-74
    • Emison, E.S.1    Garcia-Barcelo, M.2    Grice, E.A.3
  • 18
    • 8644235804 scopus 로고    scopus 로고
    • Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas
    • Fearnhead, N.S., Wilding, J.L., Winney, B., et al. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci USA 101 (2004), 15992–15997.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 15992-15997
    • Fearnhead, N.S.1    Wilding, J.L.2    Winney, B.3
  • 20
    • 84857169655 scopus 로고    scopus 로고
    • Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata
    • Forstbauer, L.M., Brockschmidt, F.F., Moskvina, V., et al. Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet 20 (2012), 326–332.
    • (2012) Eur J Hum Genet , vol.20 , pp. 326-332
    • Forstbauer, L.M.1    Brockschmidt, F.F.2    Moskvina, V.3
  • 21
    • 62549085618 scopus 로고    scopus 로고
    • Human genetic variation and its contribution to complex traits
    • Frazer, K.A., Murray, S.S., Schork, N.J., et al. Human genetic variation and its contribution to complex traits. Nat Rev 10 (2009), 241–251.
    • (2009) Nat Rev , vol.10 , pp. 241-251
    • Frazer, K.A.1    Murray, S.S.2    Schork, N.J.3
  • 22
    • 0035144999 scopus 로고    scopus 로고
    • Psychological stress perturbs epidermal permeability barrier homeostasis: implications for the pathogenesis of stress-associated skin disorders
    • Garg, A., Chren, M.M., Sands, L.P., et al. Psychological stress perturbs epidermal permeability barrier homeostasis: implications for the pathogenesis of stress-associated skin disorders. Arch Dermatol 137 (2001), 53–59.
    • (2001) Arch Dermatol , vol.137 , pp. 53-59
    • Garg, A.1    Chren, M.M.2    Sands, L.P.3
  • 23
    • 34547687736 scopus 로고    scopus 로고
    • Lymphocytes, neuropeptides, and genes involved in alopecia areata
    • Gilhar, A., Paus, R., Kalish, R.S., Lymphocytes, neuropeptides, and genes involved in alopecia areata. J Clin Invest 117 (2007), 2019–2027.
    • (2007) J Clin Invest , vol.117 , pp. 2019-2027
    • Gilhar, A.1    Paus, R.2    Kalish, R.S.3
  • 24
    • 0014455356 scopus 로고
    • Alopecia areata. A follow-up investigation of outpatient material
    • Gip, L., Lodin, A., Molin, L., Alopecia areata. A follow-up investigation of outpatient material. Acta Dermato-venereol 49 (1969), 180–188.
    • (1969) Acta Dermato-venereol , vol.49 , pp. 180-188
    • Gip, L.1    Lodin, A.2    Molin, L.3
  • 25
    • 75749144215 scopus 로고    scopus 로고
    • XBP1: the last two decades
    • Glimcher, L.H., XBP1: the last two decades. Ann Rheumat Dis 69 (2010), 67–71.
    • (2010) Ann Rheumat Dis , vol.69 , pp. 67-71
    • Glimcher, L.H.1
  • 26
    • 20444495264 scopus 로고    scopus 로고
    • Factors affecting statistical power in the detection of genetic association
    • Gordon, D., Finch, S.J., Factors affecting statistical power in the detection of genetic association. J Clin Invest 115 (2005), 1408–1418.
    • (2005) J Clin Invest , vol.115 , pp. 1408-1418
    • Gordon, D.1    Finch, S.J.2
  • 27
    • 38749145596 scopus 로고    scopus 로고
    • Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms
    • Gorlov, I.P., Gorlova, O.Y., Sunyaev, S.R., et al. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 82 (2008), 100–112.
    • (2008) Am J Hum Genet , vol.82 , pp. 100-112
    • Gorlov, I.P.1    Gorlova, O.Y.2    Sunyaev, S.R.3
  • 28
    • 84875365804 scopus 로고    scopus 로고
    • Autophagosomes form at ER–mitochondria contact sites
    • Hamasaki, M., Furuta, N., Matsuda, A., et al. Autophagosomes form at ER–mitochondria contact sites. Nature 495 (2013), 389–393.
    • (2013) Nature , vol.495 , pp. 389-393
    • Hamasaki, M.1    Furuta, N.2    Matsuda, A.3
  • 29
    • 0033358425 scopus 로고    scopus 로고
    • A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort
    • Hampe, J., Schreiber, S., Shaw, S.H., et al. A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. Am J Hum Genet 64 (1999), 808–816.
    • (1999) Am J Hum Genet , vol.64 , pp. 808-816
    • Hampe, J.1    Schreiber, S.2    Shaw, S.H.3
  • 30
    • 81155159651 scopus 로고    scopus 로고
    • The pleiotropic roles of autophagy regulators in melanogenesis
    • Ho, H., Ganesan, A.K., The pleiotropic roles of autophagy regulators in melanogenesis. Pigment Cell Melanoma Res 24 (2011), 595–604.
    • (2011) Pigment Cell Melanoma Res , vol.24 , pp. 595-604
    • Ho, H.1    Ganesan, A.K.2
  • 31
    • 84870880174 scopus 로고    scopus 로고
    • The hairpin-type tail-anchored SNARE syntaxin 17 targets to autophagosomes for fusion with endosomes/lysosomes
    • Itakura, E., Kishi-Itakura, C., Mizushima, N., The hairpin-type tail-anchored SNARE syntaxin 17 targets to autophagosomes for fusion with endosomes/lysosomes. Cell 151 (2012), 1256–1269.
    • (2012) Cell , vol.151 , pp. 1256-1269
    • Itakura, E.1    Kishi-Itakura, C.2    Mizushima, N.3
  • 32
    • 84880907167 scopus 로고    scopus 로고
    • Syntaxin 17: The autophagosomal SNARE
    • Itakura, E., Mizushima, N., Syntaxin 17: The autophagosomal SNARE. Autophagy 9 (2013), 917–919.
    • (2013) Autophagy , vol.9 , pp. 917-919
    • Itakura, E.1    Mizushima, N.2
  • 33
    • 42149108570 scopus 로고    scopus 로고
    • Maintenance of hair follicle immune privilege is linked to prevention of NK cell attack
    • Ito, T., Ito, N., Saatoff, M., et al. Maintenance of hair follicle immune privilege is linked to prevention of NK cell attack. J Invest Dermatol 128 (2008), 1196–1206.
    • (2008) J Invest Dermatol , vol.128 , pp. 1196-1206
    • Ito, T.1    Ito, N.2    Saatoff, M.3
  • 34
    • 0031952818 scopus 로고    scopus 로고
    • Alopecia areata and cytomegalovirus infection in twins: genes versus environment?
    • Jackow, C., Puffer, N., Hordinsky, M., et al. Alopecia areata and cytomegalovirus infection in twins: genes versus environment?. J Am Acad Dermatol 38 (1998), 418–425.
    • (1998) J Am Acad Dermatol , vol.38 , pp. 418-425
    • Jackow, C.1    Puffer, N.2    Hordinsky, M.3
  • 35
    • 84865314385 scopus 로고    scopus 로고
    • Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance
    • Jagielska, D., Redler, S., Brockschmidt, F.F., et al. Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance. J Invest Dermatol 132 (2012), 2192–2197.
    • (2012) J Invest Dermatol , vol.132 , pp. 2192-2197
    • Jagielska, D.1    Redler, S.2    Brockschmidt, F.F.3
  • 36
    • 42649084334 scopus 로고    scopus 로고
    • Rare independent mutations in renal salt handling genes contribute to blood pressure variation
    • Ji, W., Foo, J.N., O'Roak, B.J., et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40 (2008), 592–599.
    • (2008) Nat Genet , vol.40 , pp. 592-599
    • Ji, W.1    Foo, J.N.2    O'Roak, B.J.3
  • 37
    • 79954678367 scopus 로고    scopus 로고
    • Genetic variants in CTLA4 are strongly associated with alopecia areata
    • John, K.K., Brockschmidt, F.F., Redler, S., et al. Genetic variants in CTLA4 are strongly associated with alopecia areata. J Invest Dermatol 131 (2011), 1169–1172.
    • (2011) J Invest Dermatol , vol.131 , pp. 1169-1172
    • John, K.K.1    Brockschmidt, F.F.2    Redler, S.3
  • 38
    • 84860725325 scopus 로고    scopus 로고
    • Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis
    • Jordan, C.T., Cao, L., Roberson, E.D., et al. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet 90 (2012), 796–808.
    • (2012) Am J Hum Genet , vol.90 , pp. 796-808
    • Jordan, C.T.1    Cao, L.2    Roberson, E.D.3
  • 39
    • 84868336049 scopus 로고    scopus 로고
    • Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
    • Jostins, L., Ripke, S., Weersma, R.K., et al. Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491 (2012), 119–124.
    • (2012) Nature , vol.491 , pp. 119-124
    • Jostins, L.1    Ripke, S.2    Weersma, R.K.3
  • 40
    • 50249086073 scopus 로고    scopus 로고
    • XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease
    • Kaser, A., Lee, A.H., Franke, A., et al. XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease. Cell 134 (2008), 743–756.
    • (2008) Cell , vol.134 , pp. 743-756
    • Kaser, A.1    Lee, A.H.2    Franke, A.3
  • 41
    • 84872247974 scopus 로고    scopus 로고
    • Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis
    • Lee, S., Paik, S.H., Kim, H.J., et al. Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis. PLoS One, 8, 2013, e53613.
    • (2013) PLoS One , vol.8 , pp. e53613
    • Lee, S.1    Paik, S.H.2    Kim, H.J.3
  • 42
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio, T.A., Collins, F.S., Cox, N.J., et al. Finding the missing heritability of complex diseases. Nature 461 (2009), 747–753.
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 43
    • 33846623330 scopus 로고    scopus 로고
    • Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata
    • Martinez-Mir, A., Zlotogorski, A., Gordon, D., et al. Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am J Hum Genet 80 (2007), 316–328.
    • (2007) Am J Hum Genet , vol.80 , pp. 316-328
    • Martinez-Mir, A.1    Zlotogorski, A.2    Gordon, D.3
  • 44
    • 84863257565 scopus 로고    scopus 로고
    • Drug repositioning using disease associated biological processes and network analysis of drug targets
    • Mathur, S., Dinakarpandian, D., Drug repositioning using disease associated biological processes and network analysis of drug targets. AMIA Annu Symp Proc 2011 (2011), 305–311.
    • (2011) AMIA Annu Symp Proc , vol.2011 , pp. 305-311
    • Mathur, S.1    Dinakarpandian, D.2
  • 45
    • 42349112088 scopus 로고    scopus 로고
    • Genome-wide association studies for complex traits: consensus, uncertainty and challenges
    • McCarthy, M.I., Abecasis, G.R., Cardon, L.R., et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Rev 9 (2008), 356–369.
    • (2008) Nature Rev , vol.9 , pp. 356-369
    • McCarthy, M.I.1    Abecasis, G.R.2    Cardon, L.R.3
  • 46
    • 0036634504 scopus 로고    scopus 로고
    • Epidemiology and genetics of alopecia areata
    • McDonagh, A.J., Tazi-Ahnini, R., Epidemiology and genetics of alopecia areata. Clin Exp Dermatol 27 (2002), 405–409.
    • (2002) Clin Exp Dermatol , vol.27 , pp. 405-409
    • McDonagh, A.J.1    Tazi-Ahnini, R.2
  • 47
    • 34447288951 scopus 로고    scopus 로고
    • Alopecia in the United States: outpatient utilization and common prescribing patterns
    • McMichael, A.J., Pearce, D.J., Wasserman, D., et al. Alopecia in the United States: outpatient utilization and common prescribing patterns. J Am Acad Dermatol 57 (2007), S49–S51.
    • (2007) J Am Acad Dermatol , vol.57 , pp. S49-S51
    • McMichael, A.J.1    Pearce, D.J.2    Wasserman, D.3
  • 48
    • 76949094665 scopus 로고    scopus 로고
    • Future biologic targets for IBD: potentials and pitfalls
    • Melmed, G.Y., Targan, S.R., Future biologic targets for IBD: potentials and pitfalls. Nat Rev Gastroenterol Hepatol 7 (2010), 110–117.
    • (2010) Nat Rev Gastroenterol Hepatol , vol.7 , pp. 110-117
    • Melmed, G.Y.1    Targan, S.R.2
  • 49
    • 0021367881 scopus 로고
    • Alopecia areata: light and electron microscopic pathology of the regrowing white hair
    • Messenger, A.G., Bleehen, S.S., Alopecia areata: light and electron microscopic pathology of the regrowing white hair. Br J Dermatol 110 (1984), 155–162.
    • (1984) Br J Dermatol , vol.110 , pp. 155-162
    • Messenger, A.G.1    Bleehen, S.S.2
  • 50
  • 51
    • 58849120030 scopus 로고    scopus 로고
    • A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus
    • Orru, V., Tsai, S.J., Rueda, B., et al. A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet 18 (2009), 569–579.
    • (2009) Hum Mol Genet , vol.18 , pp. 569-579
    • Orru, V.1    Tsai, S.J.2    Rueda, B.3
  • 53
    • 79959568265 scopus 로고    scopus 로고
    • The genetics of alopecia areata: What's new and how will it help our patients?
    • Petukhova, L., Cabral, R.M., Mackay-Wiggan, J., et al. The genetics of alopecia areata: What's new and how will it help our patients?. Dermatol Ther 24 (2011), 326–336.
    • (2011) Dermatol Ther , vol.24 , pp. 326-336
    • Petukhova, L.1    Cabral, R.M.2    Mackay-Wiggan, J.3
  • 54
    • 77954223152 scopus 로고    scopus 로고
    • Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
    • Petukhova, L., Duvic, M., Hordinsky, M., et al. Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature 466 (2010), 113–117.
    • (2010) Nature , vol.466 , pp. 113-117
    • Petukhova, L.1    Duvic, M.2    Hordinsky, M.3
  • 55
    • 82255162545 scopus 로고    scopus 로고
    • A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
    • Raychaudhuri, S., Iartchouk, O., Chin, K., et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet 43 (2011), 1232–1236.
    • (2011) Nat Genet , vol.43 , pp. 1232-1236
    • Raychaudhuri, S.1    Iartchouk, O.2    Chin, K.3
  • 56
    • 80054975975 scopus 로고    scopus 로고
    • Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
    • Rivas, M.A., Beaudoin, M., Gardet, A., et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet 43 (2011), 1066–1073.
    • (2011) Nat Genet , vol.43 , pp. 1066-1073
    • Rivas, M.A.1    Beaudoin, M.2    Gardet, A.3
  • 57
    • 76549132955 scopus 로고    scopus 로고
    • Concordance rate of alopecia areata in identical twins supports both genetic and environmental factors
    • Rodriguez, T.A., Fernandes, K.E., Dresser, K.L., et al. Concordance rate of alopecia areata in identical twins supports both genetic and environmental factors. J Am Acad Dermatol 62 (2010), 525–527.
    • (2010) J Am Acad Dermatol , vol.62 , pp. 525-527
    • Rodriguez, T.A.1    Fernandes, K.E.2    Dresser, K.L.3
  • 58
    • 48349098128 scopus 로고    scopus 로고
    • A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse
    • Rosengren Pielberg, G., Golovko, A., Sundstrom, E., et al. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nat Genet 40 (2008), 1004–1009.
    • (2008) Nat Genet , vol.40 , pp. 1004-1009
    • Rosengren Pielberg, G.1    Golovko, A.2    Sundstrom, E.3
  • 59
    • 23844549918 scopus 로고    scopus 로고
    • Breast cancer molecular subtypes respond differently to preoperative chemotherapy
    • Rouzier, R., Perou, C.M., Symmans, W.F., et al. Breast cancer molecular subtypes respond differently to preoperative chemotherapy. Clin Cancer Res 11 (2005), 5678–5685.
    • (2005) Clin Cancer Res , vol.11 , pp. 5678-5685
    • Rouzier, R.1    Perou, C.M.2    Symmans, W.F.3
  • 60
    • 0029027296 scopus 로고
    • Incidence of alopecia areata in Olmsted County, Minnesota, 1975 through 1989
    • Safavi, K.H., Muller, S.A., Suman, V.J., et al. Incidence of alopecia areata in Olmsted County, Minnesota, 1975 through 1989. Mayo Clin Proc 70 (1995), 628–633.
    • (1995) Mayo Clin Proc , vol.70 , pp. 628-633
    • Safavi, K.H.1    Muller, S.A.2    Suman, V.J.3
  • 61
    • 0242490780 scopus 로고    scopus 로고
    • Cytoscape: a software environment for integrated models of biomolecular interaction networks
    • Shannon, P., Markiel, A., Ozier, O., et al. Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res 13 (2003), 2498–2504.
    • (2003) Genome Res , vol.13 , pp. 2498-2504
    • Shannon, P.1    Markiel, A.2    Ozier, O.3
  • 62
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure, J., Ji, H., Next-generation DNA sequencing. Nat Biotechnol 26 (2008), 1135–1145.
    • (2008) Nat Biotechnol , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 63
    • 77954158128 scopus 로고    scopus 로고
    • Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
    • Sobreira, N.L., Cirulli, E.T., Avramopoulos, D., et al. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet, 6, 2010, e1000991.
    • (2010) PLoS Genet , vol.6 , pp. e1000991
    • Sobreira, N.L.1    Cirulli, E.T.2    Avramopoulos, D.3
  • 64
    • 74049134371 scopus 로고    scopus 로고
    • Mixed results with modulation of TH-17 cells in human autoimmune diseases
    • Steinman, L., Mixed results with modulation of TH-17 cells in human autoimmune diseases. Nat Immunol 11 (2010), 41–44.
    • (2010) Nat Immunol , vol.11 , pp. 41-44
    • Steinman, L.1
  • 65
    • 3242728308 scopus 로고    scopus 로고
    • Adult-onset alopecia areata is a complex polygenic trait in the C3H/HeJ mouse model
    • Sundberg, J.P., Silva, K.A., Li, R.H., et al. Adult-onset alopecia areata is a complex polygenic trait in the C3H/HeJ mouse model. J Invest Dermatol 123 (2004), 294–297.
    • (2004) J Invest Dermatol , vol.123 , pp. 294-297
    • Sundberg, J.P.1    Silva, K.A.2    Li, R.H.3
  • 67
    • 0025279063 scopus 로고
    • Ultrastructural observations on the hair bulb melanocytes and melanosomes in acute alopecia areata
    • Tobin, D.J., Fenton, D.A., Kendall, M.D., Ultrastructural observations on the hair bulb melanocytes and melanosomes in acute alopecia areata. J Invest Dermatol 94 (1990), 803–807.
    • (1990) J Invest Dermatol , vol.94 , pp. 803-807
    • Tobin, D.J.1    Fenton, D.A.2    Kendall, M.D.3
  • 68
    • 82255192188 scopus 로고    scopus 로고
    • Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
    • Trynka, G., Hunt, K.A., Bockett, N.A., et al. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet 43 (2011), 1193–1201.
    • (2011) Nat Genet , vol.43 , pp. 1193-1201
    • Trynka, G.1    Hunt, K.A.2    Bockett, N.A.3
  • 69
    • 0026725963 scopus 로고
    • The genetic risk for alopecia areata in first degree relatives of severely affected patients. An estimate
    • van der Steen, P., Traupe, H., Happle, R., et al. The genetic risk for alopecia areata in first degree relatives of severely affected patients. An estimate. Acta Dermatol Venereol 72 (1992), 373–375.
    • (1992) Acta Dermatol Venereol , vol.72 , pp. 373-375
    • van der Steen, P.1    Traupe, H.2    Happle, R.3
  • 70
    • 3042657319 scopus 로고    scopus 로고
    • Genome wide scan in a Flemish inflammatory bowel disease population: support for the IBD4 locus, population heterogeneity, and epistasis
    • Vermeire, S., Rutgeerts, P., Van Steen, K., et al. Genome wide scan in a Flemish inflammatory bowel disease population: support for the IBD4 locus, population heterogeneity, and epistasis. Gut 53 (2004), 980–986.
    • (2004) Gut , vol.53 , pp. 980-986
    • Vermeire, S.1    Rutgeerts, P.2    Van Steen, K.3
  • 71
    • 80053462850 scopus 로고    scopus 로고
    • Metagenomics and personalized medicine
    • Virgin, H.W., Todd, J.A., Metagenomics and personalized medicine. Cell 147 (2011), 44–56.
    • (2011) Cell , vol.147 , pp. 44-56
    • Virgin, H.W.1    Todd, J.A.2
  • 72
    • 77951974619 scopus 로고    scopus 로고
    • Interpretation of association signals and identification of causal variants from genome-wide association studies
    • Wang, K., Dickson, S.P., Stolle, C.A., et al. Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet 86 (2010), 730–742.
    • (2010) Am J Hum Genet , vol.86 , pp. 730-742
    • Wang, K.1    Dickson, S.P.2    Stolle, C.A.3
  • 73
    • 77953730407 scopus 로고    scopus 로고
    • Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome
    • Zaghloul, N.A., Liu, Y., Gerdes, J.M., et al. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome. Proc Natl Acad Sci USA 107 (2010), 10602–10607.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 10602-10607
    • Zaghloul, N.A.1    Liu, Y.2    Gerdes, J.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.