메뉴 건너뛰기




Volumn 149, Issue 1, 2003, Pages 185-188

A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutation

Author keywords

ATP2A2; Mosaicism; Mutation; Segmental Darier's disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); ADENOSINE TRIPHOSPHATE;

EID: 0043136507     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2003.05412.x     Document Type: Article
Times cited : (52)

References (18)
  • 2
    • 0034998999 scopus 로고    scopus 로고
    • Novel mutations of ATP2A2 gene in Japanese patients of Darier's disease
    • Takahashi H, Atsuta Y, Sato K et al. Novel mutations of ATP2A2 gene in Japanese patients of Darier's disease. Dermatol Sci 2001; 26: 169-72.
    • (2001) Dermatol Sci , vol.26 , pp. 169-172
    • Takahashi, H.1    Atsuta, Y.2    Sato, K.3
  • 3
    • 0032850659 scopus 로고    scopus 로고
    • Spectrum of novel ATP2A2 mutations in patients with Darier's disease
    • Sakuntabhai A, Burge S, Monk S et al. Spectrum of novel ATP2A2 mutations in patients with Darier's disease. Hum Mol Genet 1999; 8: 1611-19.
    • (1999) Hum Mol Genet , vol.8 , pp. 1611-1619
    • Sakuntabhai, A.1    Burge, S.2    Monk, S.3
  • 4
    • 0032877634 scopus 로고    scopus 로고
    • ATP2A2 mutations in Darier's disease: Variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
    • Ruiz-Perez VL, Carter SA, Healy E et al. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Hum Mol Genet 1999; 8: 1621-30.
    • (1999) Hum Mol Genet , vol.8 , pp. 1621-1630
    • Ruiz-Perez, V.L.1    Carter, S.A.2    Healy, E.3
  • 5
    • 0035137616 scopus 로고    scopus 로고
    • Darier's disease - Novel mutations in ATP2A2 and genotype-phenotype correlation
    • Ringpfeil F, Raus A, DiGiovanna JJ et al. Darier's disease - novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol 2001; 10: 19-27.
    • (2001) Exp Dermatol , vol.10 , pp. 19-27
    • Ringpfeil, F.1    Raus, A.2    DiGiovanna, J.J.3
  • 6
    • 0032848744 scopus 로고    scopus 로고
    • ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes
    • Jacobsen NJ, Lyons I, Hoogendoorn B et al. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum Mol Genet 1999; 8: 1631-6.
    • (1999) Hum Mol Genet , vol.8 , pp. 1631-1636
    • Jacobsen, N.J.1    Lyons, I.2    Hoogendoorn, B.3
  • 7
    • 0035132674 scopus 로고    scopus 로고
    • Exclusion of the Darier's disease gene. ATP2A2, as a common susceptibility gene for bipolar disorder
    • Jacobsen NJ, Franks EK, Elvidge G et al. Exclusion of the Darier's disease gene. ATP2A2, as a common susceptibility gene for bipolar disorder. Mol Psychiatry 2001; 6: 92-7.
    • (2001) Mol Psychiatry , vol.6 , pp. 92-97
    • Jacobsen, N.J.1    Franks, E.K.2    Elvidge, G.3
  • 8
    • 0035093488 scopus 로고    scopus 로고
    • Novel point mutations of the ATP2A2 gene in two Chinese families with Darier's disease
    • Yang Y, Li G, Bu D et al. Novel point mutations of the ATP2A2 gene in two Chinese families with Darier's disease. J Invest Dermatol 2001; 116: 482-3.
    • (2001) J Invest Dermatol , vol.116 , pp. 482-483
    • Yang, Y.1    Li, G.2    Bu, D.3
  • 9
    • 0036064532 scopus 로고    scopus 로고
    • Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease
    • Chao SC, Yang MH, Lee JY. Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease. Br J Dermatol 2002; 146: 958-63.
    • (2002) Br J Dermatol , vol.146 , pp. 958-963
    • Chao, S.C.1    Yang, M.H.2    Lee, J.Y.3
  • 11
    • 0343527944 scopus 로고    scopus 로고
    • Segmental manifestation of Darier's disease. What is the genetic background in type 1 and type 2 mosaic phenotypes?
    • Itin PH, Buchner SA, Happle R. Segmental manifestation of Darier's disease. What is the genetic background in type 1 and type 2 mosaic phenotypes? Dermatology 2000; 200: 254-7.
    • (2000) Dermatology , vol.200 , pp. 254-257
    • Itin, P.H.1    Buchner, S.A.2    Happle, R.3
  • 12
    • 0034526292 scopus 로고    scopus 로고
    • Mosaicism for ATP2A2 mutations causes segmental Darier's disease
    • Sakuntabhai A, Dhitavat J, Burge S et al. Mosaicism for ATP2A2 mutations causes segmental Darier's disease. J Invest Dermatol 2000; 115: 1144-7.
    • (2000) J Invest Dermatol , vol.115 , pp. 1144-1147
    • Sakuntabhai, A.1    Dhitavat, J.2    Burge, S.3
  • 13
    • 0030613629 scopus 로고    scopus 로고
    • 2+ transport by sarco (endo) plasmic reticulum Ca2+-ATPases
    • 2+ transport by sarco (endo) plasmic reticulum Ca2+-ATPases. J Biol Chem 1997; 272: 28815-18.
    • (1997) J Biol Chem , vol.272 , pp. 28815-28818
    • MacLennan, D.H.1    Rice, W.J.2    Green, N.M.3
  • 14
    • 0028831081 scopus 로고
    • Acantholytic dyskeratotic epidermal nevus as a mosaic form of Darier's disease
    • Cambiaghi S, Brusasco A, Grimalt R et al. Acantholytic dyskeratotic epidermal nevus as a mosaic form of Darier's disease. J Am Acad Dermatol 1995; 32: 284-6.
    • (1995) J Am Acad Dermatol , vol.32 , pp. 284-286
    • Cambiaghi, S.1    Brusasco, A.2    Grimalt, R.3
  • 15
    • 0021863647 scopus 로고
    • Unilateral keratosis follicularis
    • Moore JA, Schosser RH. Unilateral keratosis follicularis. Cutis 1985; 35: 459-61.
    • (1985) Cutis , vol.35 , pp. 459-461
    • Moore, J.A.1    Schosser, R.H.2
  • 16
    • 0026655156 scopus 로고
    • An acantholytic dyskeratotic epidermal naevus with other features of Darier's disease on the same side of the body
    • Munro CS, Cox NH. An acantholytic dyskeratotic epidermal naevus with other features of Darier's disease on the same side of the body. Br J Dermatol 1992; 127: 168-71.
    • (1992) Br J Dermatol , vol.127 , pp. 168-171
    • Munro, C.S.1    Cox, N.H.2
  • 17
    • 0030924547 scopus 로고    scopus 로고
    • Localized Darier's disease. Implications for genetic studies
    • O'Malley MP, Haake A, Goldsmith L et al. Localized Darier's disease. Implications for genetic studies. Arch Dermatol 1997; 133: 1134-8.
    • (1997) Arch Dermatol , vol.133 , pp. 1134-1138
    • O'Malley, M.P.1    Haake, A.2    Goldsmith, L.3
  • 18
    • 0019501589 scopus 로고
    • Unilateral systematized keratosis follicularis. A variant of Darier's disease or an epidermal naevus (acantholytic dyskeratotic epidermal naevus)?
    • Starink TM, Woerdeman MJ. Unilateral systematized keratosis follicularis. A variant of Darier's disease or an epidermal naevus (acantholytic dyskeratotic epidermal naevus)? Br J Dermatol 1981; 105: 207-14.
    • (1981) Br J Dermatol , vol.105 , pp. 207-214
    • Starink, T.M.1    Woerdeman, M.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.