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Volumn 18, Issue 2, 2016, Pages 147-151

Clinical analysis and autoimmune regulator gene mutation of autoimmune polyendocrinopathy syndrome type i in a family: A report of one case

Author keywords

Autoimmune polyendocrinopathy syndrome type I; Autoimmune regulator; Gene mutation

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; TRANSCRIPTION FACTOR;

EID: 84962599304     PISSN: 10088830     EISSN: None     Source Type: Journal    
DOI: 10.7499/j.issn.1008-8830.2016.02.010     Document Type: Article
Times cited : (6)

References (15)
  • 1
    • 33747662305 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy[J]
    • Perheentupa J. Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy[J]. J Clin Endocrinol Metab, 2006, 91(8): 2843-2850.
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.8 , pp. 2843-2850
    • Perheentupa, J.1
  • 2
    • 16944367194 scopus 로고    scopus 로고
    • Positional cloning of the APECED gene[J]
    • Nagamine K, Peterson P, Scott HS et al. Positional cloning of the APECED gene[J]. Nat Genet, 1997, 17(4): 393-398.
    • (1997) Nat Genet , vol.17 , Issue.4 , pp. 393-398
    • Nagamine, K.1    Peterson, P.2    Scott, H.S.3
  • 3
    • 84872192656 scopus 로고    scopus 로고
    • A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1[J]
    • Zhang J, Liu H, Liu Z, et al. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1[J]. PLoS One, 2013, 8(1): e53981.
    • (2013) PLoS One , vol.8 , Issue.1 , pp. e53981
    • Zhang, J.1    Liu, H.2    Liu, Z.3
  • 4
    • 0029836686 scopus 로고    scopus 로고
    • Genetic homogeneity of autoimmune polyglandular disease type I[J]
    • Björses P, Aaltonen J, Vikman A, et al. Genetic homogeneity of autoimmune polyglandular disease type I[J]. Am J Hum Genet, 1996, 59(4): 879-886.
    • (1996) Am J Hum Genet , vol.59 , Issue.4 , pp. 879-886
    • Björses, P.1    Aaltonen, J.2    Vikman, A.3
  • 5
    • 0037961060 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: Time to review diagnostic criteria?[J]
    • Buzi F, Badolato R, Mazza C, et al. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?[J]. J Clin Endocrinol Metab, 2003, 88(7): 3146-3148.
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.7 , pp. 3146-3148
    • Buzi, F.1    Badolato, R.2    Mazza, C.3
  • 6
    • 64249105842 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type 1(APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2(APS-2)[J]
    • Michels AW, Eisenbarth GS. Autoimmune polyendocrine syndrome type 1(APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2(APS-2)[J]. J Intern Med, 2009, 265(5): 530-540.
    • (2009) J Intern Med , vol.265 , Issue.5 , pp. 530-540
    • Michels, A.W.1    Eisenbarth, G.S.2
  • 7
    • 62749130569 scopus 로고    scopus 로고
    • Clearing the AIRE: On the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1[J]
    • Shikama N, Nusspaumer G, Holländer GA. Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1[J]. Endocrinol Metab Clin North Am, 2009, 38(2): 273-288.
    • (2009) Endocrinol Metab Clin North Am , vol.38 , Issue.2 , pp. 273-288
    • Shikama, N.1    Nusspaumer, G.2    Holländer, G.A.3
  • 8
    • 16944367194 scopus 로고    scopus 로고
    • Positional cloning of the APECED gene[J]
    • Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene[J]. Nat Genet, 1997, 17(4): 393-398.
    • (1997) Nat Genet , vol.17 , Issue.4 , pp. 393-398
    • Nagamine, K.1    Peterson, P.2    Scott, H.S.3
  • 9
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains[J]
    • Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains[J]. Nat Genet, 1997, 17(4): 399-403.
    • (1997) Nat Genet , vol.17 , Issue.4 , pp. 399-403
    • Finnish-German APECED Consortium1
  • 10
    • 84941210788 scopus 로고    scopus 로고
    • Induction of central tolerance by the factor Aire: Molecular and epigenetic regulation[J]
    • Lopes N, Ferrier P, Irla M. Induction of central tolerance by the factor Aire: molecular and epigenetic regulation[J]. Med Sci (Paris), 2015, 31(8-9): 742-747.
    • (2015) Med Sci (Paris) , vol.31 , Issue.8-9 , pp. 742-747
    • Lopes, N.1    Ferrier, P.2    Irla, M.3
  • 11
    • 0034957535 scopus 로고    scopus 로고
    • The SAND domain structure defines a novel DNA-binfing fold in transcriptional regulation[J]
    • Bottomley MJ, Collard MW, Huggenvik JI, et al. The SAND domain structure defines a novel DNA-binfing fold in transcriptional regulation[J]. Nat Struct Biol, 2001, 8(7): 626-633.
    • (2001) Nat Struct Biol , vol.8 , Issue.7 , pp. 626-633
    • Bottomley, M.J.1    Collard, M.W.2    Huggenvik, J.I.3
  • 12
    • 0037115481 scopus 로고    scopus 로고
    • Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting[J]
    • Ramsey C, Bukrinsky A, Peltonen L. Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting[J]. Hum Mol Genet, 2002, 11(26): 3299-3308.
    • (2002) Hum Mol Genet , vol.11 , Issue.26 , pp. 3299-3308
    • Ramsey, C.1    Bukrinsky, A.2    Peltonen, L.3
  • 13
    • 0036171124 scopus 로고    scopus 로고
    • Delineation of the molecular defects in the AIRE gene in autoimmune polyendoerinopathycandidiasis-ectodermal dystrophy patients from Southern Italy[J]
    • Meloni A, Perniola R, FaàV, et al. Delineation of the molecular defects in the AIRE gene in autoimmune polyendoerinopathycandidiasis-ectodermal dystrophy patients from Southern Italy[J]. J Clin Endocrinol Metab, 2002, 87(2): 841-846.
    • (2002) J Clin Endocrinol Metab , vol.87 , Issue.2 , pp. 841-846
    • Meloni, A.1    Perniola, R.2    Faà, V.3
  • 14
    • 0034749749 scopus 로고    scopus 로고
    • A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis[J]
    • Cetani F, Barbesino G, Borsari S, et al. A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis[J]. J Clin Endocrinol Metab, 2001, 86(10): 4747-4752.
    • (2001) J Clin Endocrinol Metab , vol.86 , Issue.10 , pp. 4747-4752
    • Cetani, F.1    Barbesino, G.2    Borsari, S.3
  • 15
    • 84896547031 scopus 로고    scopus 로고
    • The mosaic of environment involvement in autoimmunity: The abrogation of viral latency by stress, a non-infectious environmental agent, is an intrinsic prerequisite prelude before viruses can rank as infectious environmental agents that trigger autoimmune diseases[J]
    • Temajo NO, Howard N. The mosaic of environment involvement in autoimmunity: the abrogation of viral latency by stress, a non-infectious environmental agent, is an intrinsic prerequisite prelude before viruses can rank as infectious environmental agents that trigger autoimmune diseases[J]. Autoimmun Rev, 2014, 13(6): 635-640.
    • (2014) Autoimmun Rev , vol.13 , Issue.6 , pp. 635-640
    • Temajo, N.O.1    Howard, N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.