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Volumn 7, Issue 2, 2014, Pages 728-732

Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP

Author keywords

Disseminated superficial actinic porokeratosis; Mutation; MVK gene

Indexed keywords

MEVALONATE KINASE; PHOSPHOTRANSFERASE;

EID: 84907800939     PISSN: None     EISSN: 19362625     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (14)
  • 2
    • 84879940077 scopus 로고    scopus 로고
    • Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis
    • Zhou Y, Liu J, Fu X, Yu Y, Shi B, Yu G, Shi Z, Wu W, Pan F, Tian H, Liu H, Zhang F. Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis. Br J Dermatol 2013; 169: 193-5
    • (2013) Br J Dermatol , vol.169 , pp. 193-195
    • Zhou, Y.1    Liu, J.2    Fu, X.3    Yu, Y.4    Shi, B.5    Yu, G.6    Shi, Z.7    Wu, W.8    Pan, F.9    Tian, H.10    Liu, H.11    Zhang, F.12
  • 3
    • 84887202197 scopus 로고    scopus 로고
    • Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis
    • Epub 2013 Aug 8
    • Dai J, Chen M, Fu X, Yu Y, Shi Z, Yu C, Wang G, Tian H, Liu H, Zhang F. Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis. J Dermatol Sci 2013; 72: 320-2. Epub 2013 Aug 8
    • (2013) J Dermatol Sci , vol.72 , pp. 320-322
    • Dai, J.1    Chen, M.2    Fu, X.3    Yu, Y.4    Shi, Z.5    Yu, C.6    Wang, G.7    Tian, H.8    Liu, H.9    Zhang, F.10
  • 4
    • 0030881593 scopus 로고    scopus 로고
    • Identification of catalytic residues in human mevalonate kinase
    • Potter D, Miziorko HM. Identification of catalytic residues in human mevalonate kinase. J Biol Chem 1997; 272: 25449-54
    • (1997) J Biol Chem , vol.272 , pp. 25449-25454
    • Potter, D.1    Miziorko, H.M.2
  • 5
    • 0031052035 scopus 로고    scopus 로고
    • Identification and functional characterization of an active-site lysine in mevalonate kinase
    • Potter D, Wojnar JM, Narasimhan C, Miziorko HM. Identification and functional characterization of an active-site lysine in mevalonate kinase. J Biol Chem 1997; 272: 5741-6
    • (1997) J Biol Chem , vol.272 , pp. 5741-5746
    • Potter, D.1    Wojnar, J.M.2    Narasimhan, C.3    Miziorko, H.M.4
  • 9
    • 34447581048 scopus 로고    scopus 로고
    • Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned
    • author reply 2059-60; discussion 2060
    • Frank J, van Geel M, van Steensel MA. Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned. J Invest Dermatol 2007; 127: 2058-9; author reply 2059-60; discussion 2060
    • (2007) J Invest Dermatol , vol.127 , pp. 2058-2059
    • Frank, J.1    van Geel, M.2    van Steensel, M.A.3
  • 11
    • 0034672705 scopus 로고    scopus 로고
    • Biochemical and genetic aspects of mevalonate kinase and its deficiency
    • Houten SM, Wanders RJ, Waterham HR. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta 2000; 1529: 19-32
    • (2000) Biochim Biophys Acta , vol.1529 , pp. 19-32
    • Houten, S.M.1    Wanders, R.J.2    Waterham, H.R.3
  • 12
    • 32044435884 scopus 로고    scopus 로고
    • Isoprenylated proteins
    • McTaggart SJ. Isoprenylated proteins. Cell Mol Life Sci 2006; 63: 255-67
    • (2006) Cell Mol Life Sci , vol.63 , pp. 255-267
    • McTaggart, S.J.1
  • 13
    • 33845308573 scopus 로고    scopus 로고
    • The skin barrier in healthy and diseased state
    • Bouwstra JA, Ponec M. The skin barrier in healthy and diseased state. Biochim Biophys Acta 2006; 1758: 2080-95
    • (2006) Biochim Biophys Acta , vol.1758 , pp. 2080-2095
    • Bouwstra, J.A.1    Ponec, M.2
  • 14
    • 79954882368 scopus 로고    scopus 로고
    • Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita
    • Zhao Y, Gartner U, Smith FJ, McLean WH. Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita. J Invest Dermatol 2011; 131: 1045-52
    • (2011) J Invest Dermatol , vol.131 , pp. 1045-1052
    • Zhao, Y.1    Gartner, U.2    Smith, F.J.3    McLean, W.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.