메뉴 건너뛰기




Volumn 126, Issue 11, 2006, Pages 2545-2547

Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome [3]

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE;

EID: 33750050869     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700453     Document Type: Letter
Times cited : (10)

References (17)
  • 1
    • 33646054123 scopus 로고    scopus 로고
    • Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms
    • Akiyama M (2006) Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci 42:83-9
    • (2006) J Dermatol Sci , vol.42 , pp. 83-89
    • Akiyama, M.1
  • 2
    • 0034068122 scopus 로고    scopus 로고
    • A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome
    • Aoki N, Suzuki H, Ito K, Ito M (2000) A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome. J Invest Dermatol 114:1065-6
    • (2000) J Invest Dermatol , vol.114 , pp. 1065-1066
    • Aoki, N.1    Suzuki, H.2    Ito, K.3    Ito, M.4
  • 3
    • 0031568898 scopus 로고    scopus 로고
    • Human fatty aldehyde dehydrogenase gene (ALDH10): Organization and tissue-dependent expression
    • Chang C, Yoshida A (1997) Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. Genomics 40:80-5
    • (1997) Genomics , vol.40 , pp. 80-85
    • Chang, C.1    Yoshida, A.2
  • 5
    • 0028015872 scopus 로고
    • Interleukin-1 activates a novel protein kinase cascade that results in the phosphorylation of Hsp27
    • Freshney NW, Rawlinson L, Guesdon F, Jones E, Cowley S, Hsuan J et al. (1994) Interleukin-1 activates a novel protein kinase cascade that results in the phosphorylation of Hsp27. Cell 78:1039-49
    • (1994) Cell , vol.78 , pp. 1039-1049
    • Freshney, N.W.1    Rawlinson, L.2    Guesdon, F.3    Jones, E.4    Cowley, S.5    Hsuan, J.6
  • 6
    • 0025761767 scopus 로고
    • Ultrastructural study of the skin in Sjögren-Larsson syndrome
    • Ito M, Oguro K, Sato Y (1991) Ultrastructural study of the skin in Sjögren-Larsson syndrome. Arch Dermatol Res 283:141-8
    • (1991) Arch Dermatol Res , vol.283 , pp. 141-148
    • Ito, M.1    Oguro, K.2    Sato, Y.3
  • 7
    • 0030936743 scopus 로고    scopus 로고
    • Human liver fatty aldehyde dehydrogenase: Microsomal localization, purification, and biochemical characterization
    • Kelson TL, Secor McVoy JR, Rizzo WB (1997) Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. Biochim Biophys Acta 1335:99-110
    • (1997) Biochim Biophys Acta , vol.1335 , pp. 99-110
    • Kelson, T.L.1    Secor McVoy, J.R.2    Rizzo, W.B.3
  • 8
    • 0034075423 scopus 로고    scopus 로고
    • RNA-based mutation screening in German families with Sjogren-Larsson syndrome
    • Kraus C, Braun-Quentin C, Ballhausen WG, Pfeiffer RA (2000) RNA-based mutation screening in German families with Sjogren-Larsson syndrome. Eur J Hum Genet 8:299-306
    • (2000) Eur J Hum Genet , vol.8 , pp. 299-306
    • Kraus, C.1    Braun-Quentin, C.2    Ballhausen, W.G.3    Pfeiffer, R.A.4
  • 9
    • 0031005062 scopus 로고    scopus 로고
    • The first structure of an aldehyde dehydrogenase reveals novel interactions between NAD and the Rossmann fold
    • Liu Z-J, Sun Y-J, Rose J, Chung YJ, Hsiao CD, Chang WR et al. (1997) The first structure of an aldehyde dehydrogenase reveals novel interactions between NAD and the Rossmann fold. Nat Struct Biol 4:317-26
    • (1997) Nat Struct Biol , vol.4 , pp. 317-326
    • Liu, Z.-J.1    Sun, Y.-J.2    Rose, J.3    Chung, Y.J.4    Hsiao, C.D.5    Chang, W.R.6
  • 10
    • 0028100996 scopus 로고
    • Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses
    • Paige DG, Morse-Fisher N, Harper JI (1994) Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses. Br J Dermatol 131:23-7
    • (1994) Br J Dermatol , vol.131 , pp. 23-27
    • Paige, D.G.1    Morse-Fisher, N.2    Harper, J.I.3
  • 12
    • 0027337924 scopus 로고
    • Sjögren-Larsson syndrome
    • Rizzo WB (1993) Sjögren-Larsson syndrome. Semin Dermatol 2:210-8
    • (1993) Semin Dermatol , vol.2 , pp. 210-218
    • Rizzo, W.B.1
  • 13
    • 22144493352 scopus 로고    scopus 로고
    • Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)
    • Rizzo WB, Carney G (2005) Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat 26:1-10
    • (2005) Hum Mutat , vol.26 , pp. 1-10
    • Rizzo, W.B.1    Carney, G.2
  • 14
    • 0033233482 scopus 로고    scopus 로고
    • The molecular basis of Sjögren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene
    • Rizzo WB, Carney G, Lin Z (1999) The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet 65:1547-60
    • (1999) Am J Hum Genet , vol.65 , pp. 1547-1560
    • Rizzo, W.B.1    Carney, G.2    Lin, Z.3
  • 15
    • 0023818266 scopus 로고
    • Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: Nicotinamide adenine dinucleotide oxidoreductase activity
    • Rizzo WB, Dammann AL, Craft DA (1988) Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 81:737-44
    • (1988) J Clin Invest , vol.81 , pp. 737-744
    • Rizzo, W.B.1    Dammann, A.L.2    Craft, D.A.3
  • 16
    • 0031568268 scopus 로고    scopus 로고
    • Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)
    • Rogers GR, Markova NG, De Laurenzi V, Rizzo WB, Compton JG (1997) Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). Genomics 39:127-35
    • (1997) Genomics , vol.39 , pp. 127-135
    • Rogers, G.R.1    Markova, N.G.2    De Laurenzi, V.3    Rizzo, W.B.4    Compton, J.G.5
  • 17
    • 9744242042 scopus 로고    scopus 로고
    • Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome
    • Shibaki A, Akiyama M, Shimizu H (2004) Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome. J Invest Dermatol 123:1197-9
    • (2004) J Invest Dermatol , vol.123 , pp. 1197-1199
    • Shibaki, A.1    Akiyama, M.2    Shimizu, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.