메뉴 건너뛰기




Volumn 27, Issue 5, 2010, Pages 576-578

The c. 3463>T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria

Author keywords

ADAR1 gene; Dyschromatosis symmetrical hereditaria; Gene mutation

Indexed keywords

ADENOSINE DEAMINASE ACTING ON RNA 1 GENE; ARTICLE; DNA SEQUENCE; DYSCHROMATOSIS SYMMETRICAL HEREDITARIA; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; ADULT; AMINO ACID SEQUENCE; CHILD; ENZYMOLOGY; FEMALE; GENETICS; GENOTYPE; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PIGMENT DISORDER; POINT MUTATION; PRESCHOOL CHILD;

EID: 78049234711     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2010.05.022     Document Type: Article
Times cited : (4)

References (20)
  • 1
    • 0032912480 scopus 로고    scopus 로고
    • Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): Report of a Japanese family with the condition and a literature review of 185 cases
    • Oyama M, Shimizu H, Ohata Y, et al. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases. Br J Dermatol,1999,140:491-496.
    • (1999) Br J Dermatol , vol.140 , pp. 491-496
    • Oyama, M.1    Shimizu, H.2    Ohata, Y.3
  • 3
    • 0037960273 scopus 로고    scopus 로고
    • Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21
    • Zhang XJ, Gao M, Li M, et al. Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. J Invest Dermatol,2003,120:776-780.
    • (2003) J Invest Dermatol , vol.120 , pp. 776-780
    • Zhang, X.J.1    Gao, M.2    Li, M.3
  • 4
    • 0042888576 scopus 로고    scopus 로고
    • Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria
    • Miyamura Y, Suzuki T, Kono M, et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet,2003,73:693-699.
    • (2003) Am J Hum Genet , vol.73 , pp. 693-699
    • Miyamura, Y.1    Suzuki, T.2    Kono, M.3
  • 5
    • 2342476651 scopus 로고    scopus 로고
    • Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria
    • Liu Q, Liu W, Jiang L, et al. Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria. J Invest Dermatol,2004,122:896-899.
    • (2004) J Invest Dermatol , vol.122 , pp. 896-899
    • Liu, Q.1    Liu, W.2    Jiang, L.3
  • 6
    • 33644873012 scopus 로고    scopus 로고
    • Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria
    • Liu Q, Jiang L, Liu WL, et al. Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. Br J Dermatol,2006,154:636-642.
    • (2006) Br J Dermatol , vol.154 , pp. 636-642
    • Liu, Q.1    Jiang, L.2    Liu, W.L.3
  • 7
    • 27744510699 scopus 로고    scopus 로고
    • Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria
    • DOI 10.1007/s00403-005-0595-3
    • Li M, Li C, Hua H, et al. Identification of two novel mutations in Chinese patients with dyschromatosis symmetrica hereditaria. Arch Dermatol Res,2005,297:196-200. (Pubitemid 41618698)
    • (2005) Archives of Dermatological Research , vol.297 , Issue.5 , pp. 196-200
    • Li, M.1    Li, C.2    Hua, H.3    Zhu, W.4    Lu, Y.5    Yang, L.6
  • 8
    • 34548062141 scopus 로고    scopus 로고
    • Mutation analysis of ADAR gene in a pedigree with dyschromatosis symmetrica hereditaria
    • Li M, Yang LJ, Zhu XH, et al. Mutation analysis of ADAR gene in a pedigree with dyschromatosis symmetrica hereditaria. Chin J Med Genet,2007,24:446-448.
    • (2007) Chin J Med Genet , vol.24 , pp. 446-448
    • Li, M.1    Yang, L.J.2    Zhu, X.H.3
  • 9
    • 4544284817 scopus 로고    scopus 로고
    • Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)
    • Zhang XJ, He PP, Li M, et al. Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). Hum Mutat,2004,23:629-630.
    • (2004) Hum Mutat , vol.23 , pp. 629-630
    • Zhang, X.J.1    He, P.P.2    Li, M.3
  • 10
    • 33846873046 scopus 로고    scopus 로고
    • Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria
    • Hou Y, Chen J, Gao M, et al. Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria. Acta Derm Venereol,2007,87:18-21.
    • (2007) Acta Derm Venereol , vol.87 , pp. 18-21
    • Hou, Y.1    Chen, J.2    Gao, M.3
  • 11
    • 57549119335 scopus 로고    scopus 로고
    • Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria
    • Murata I, Hozumi Y, Kawaguchi M, et al. Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria. J Dermatol Sci,2009,53:76-77.
    • (2009) J Dermatol Sci , vol.53 , pp. 76-77
    • Murata, I.1    Hozumi, Y.2    Kawaguchi, M.3
  • 12
    • 47149112190 scopus 로고    scopus 로고
    • Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: Histological observation and comparison of genotypes and clinical phenotypes
    • Kondo T, Suzuki T, Mitsuhashi Y, et al. Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes. J Dermatol,2008,35:395-406.
    • (2008) J Dermatol , vol.35 , pp. 395-406
    • Kondo, T.1    Suzuki, T.2    Mitsuhashi, Y.3
  • 13
    • 33846226051 scopus 로고    scopus 로고
    • Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria
    • Suzuki N, Suzuki T, Inagaki K, et al. Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria. J Invest Dermatol,2007,127:309-311.
    • (2007) J Invest Dermatol , vol.127 , pp. 309-311
    • Suzuki, N.1    Suzuki, T.2    Inagaki, K.3
  • 14
    • 34547682305 scopus 로고    scopus 로고
    • A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria
    • Li M, Yang LJ, Shi YX, et al. A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria. Arch Dermatol Res,2007,299:273-275.
    • (2007) Arch Dermatol Res , vol.299 , pp. 273-275
    • Li, M.1    Yang, L.J.2    Shi, Y.X.3
  • 15
    • 49649106275 scopus 로고    scopus 로고
    • Identification of a novel DSKAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria
    • Li M, Yang LJ, Zhu XH. Identification of a novel DSKAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria. Clin Exp Dermatol,2008,33,644-646.
    • (2008) Clin Exp Dermatol , vol.33 , pp. 644-646
    • Li, M.1    Yang, L.J.2    Zhu, X.H.3
  • 16
    • 41149140214 scopus 로고    scopus 로고
    • Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria
    • Zhang F, Liu H, Jiang D, et al. Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. J Dermatol Sci,2008,50:109-114.
    • (2008) J Dermatol Sci , vol.50 , pp. 109-114
    • Zhang, F.1    Liu, H.2    Jiang, D.3
  • 17
    • 34249813693 scopus 로고    scopus 로고
    • Novel deletion mutation of DSRAD in a Chinese family with Dyschromatosis Symmetrica Hereditaria (DSH)
    • Xing Q, Shu A, Yu L, et al. Novel deletion mutation of DSRAD in a Chinese family with Dyschromatosis Symmetrica Hereditaria (DSH). Eur J Dermatol,2007,17:247-248.
    • (2007) Eur J Dermatol , vol.17 , pp. 247-248
    • Xing, Q.1    Shu, A.2    Yu, L.3
  • 18
    • 0002531661 scopus 로고
    • Dyschromatosis symmetrica hereditaria
    • Toyama I. Dyschromatosis symmetrica hereditaria. Jpn J Dermatol,1929,27:95-96.
    • (1929) Jpn J Dermatol , vol.27 , pp. 95-96
    • Toyama, I.1
  • 19
    • 0028823371 scopus 로고
    • Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: The enzyme for glutamate-activated ion channel RNA editing
    • Wang Y, Zeng Y, Murray JM, et al. Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: the enzyme for glutamate-activated ion channel RNA editing. J Mol Biol,1995,254:184-195.
    • (1995) J Mol Biol , vol.254 , pp. 184-195
    • Wang, Y.1    Zeng, Y.2    Murray, J.M.3
  • 20
    • 19944432527 scopus 로고    scopus 로고
    • A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria
    • Li CR, Li M, Ma HJ, et al. A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. J Dermatol Sci,2005,37:95-99.
    • (2005) J Dermatol Sci , vol.37 , pp. 95-99
    • Li, C.R.1    Li, M.2    Ma, H.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.