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Volumn 167, Issue 6, 2012, Pages 825-828

The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 84869037443     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0579     Document Type: Article
Times cited : (8)

References (18)
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    • The prevalence of Addison's disease in Coventry, UK
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    • Willis AC & Vince FP. The prevalence of Addison's disease in Coventry, UK. Postgraduate Medical Journal 1997 73 286-288. (doi:10.1136/pgmj. 73.859.286)
    • (1997) Postgraduate Medical Journal , vol.73 , pp. 286-288
    • Willis, A.C.1    Vince, F.P.2
  • 3
    • 84859956513 scopus 로고    scopus 로고
    • Pathogenesis and genetic complexity of autoimmune Addison's disease
    • doi:10.1038/nrendo.2011.245
    • Mitchell AL & Pearce SHS. Pathogenesis and genetic complexity of autoimmune Addison's disease. Nature Reviews. Endocrinology 2012 8 306-316. (doi:10.1038/nrendo.2011.245)
    • (2012) Nature Reviews. Endocrinology , vol.8 , pp. 306-316
    • Mitchell, A.L.1    Pearce, S.H.S.2
  • 5
    • 75149154791 scopus 로고    scopus 로고
    • Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies
    • doi:10.1530/EJE-09-0618
    • Brozzetti A, Marzotti S, Tortoioli C, Bini V, Giordano R, Dotta F, Betterle C, De Bellis A, Arnaldi G, Toscano V et al. Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies. European Journal of Endocrinology 2010 162 361-369. (doi:10.1530/EJE-09-0618)
    • (2010) European Journal of Endocrinology , vol.162 , pp. 361-369
    • Brozzetti, A.1    Marzotti, S.2    Tortoioli, C.3    Bini, V.4    Giordano, R.5    Dotta, F.6    Betterle, C.7    De Bellis, A.8    Arnaldi, G.9    Toscano, V.10
  • 8
    • 21344464689 scopus 로고    scopus 로고
    • A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population
    • doi:10.1677/jme.1.01760
    • Jennings CE, Owen CJ, Wilson V & Pearce SH. A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. Journal of Molecular Endocrinology 2005 34 859-863. (doi:10.1677/jme.1.01760)
    • (2005) Journal of Molecular Endocrinology , vol.34 , pp. 859-863
    • Jennings, C.E.1    Owen, C.J.2    Wilson, V.3    Pearce, S.H.4
  • 12
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    • 70349559578 scopus 로고    scopus 로고
    • Esterases and autoimmunity: The sialic acid acetylesterase pathway and the regulation of peripheral B cell tolerance
    • doi:10.1016/j.it.2009.07.006
    • Pillai S, Cariappa A & Pirnie SP. Esterases and autoimmunity: the sialic acid acetylesterase pathway and the regulation of peripheral B cell tolerance. Trends in Immunology 2009 30 488-493. (doi:10.1016/j.it.2009.07.006)
    • (2009) Trends in Immunology , vol.30 , pp. 488-493
    • Pillai, S.1    Cariappa, A.2    Pirnie, S.P.3
  • 16
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    • Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population
    • doi:10.1111/j.1399-0039.2011.01703.x
    • Szymański K, Skórka A, Szypowska A, Bednarczuk T & Płoski R. Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population. Tissue Antigens 2011 78 214-216. (doi:10.1111/j.1399-0039.2011.01703.x)
    • (2011) Tissue Antigens , vol.78 , pp. 214-216
    • Szymański, K.1    Skórka, A.2    Szypowska, A.3    Bednarczuk, T.4    Płoski, R.5
  • 18
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    • Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
    • doi:10.1038/nrg3046
    • Cooper GM & Shendure J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nature Reviews. Genetics 2011 12 628-640. (doi:10.1038/nrg3046)
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    • Cooper, G.M.1    Shendure, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.