메뉴 건너뛰기




Volumn 114, Issue 2, 2000, Pages 388-391

A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus

Author keywords

K13; K4; Keratin; White Sponge Nevus

Indexed keywords

GLUTAMINE; KERATIN;

EID: 0034125283     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.00890.x     Document Type: Article
Times cited : (30)

References (30)
  • 2
    • 0011932755 scopus 로고
    • White sponge nevus of the mucosa (nevus spongiosus albus mucosa)
    • Cannon AB: White sponge nevus of the mucosa (nevus spongiosus albus mucosa). Arch Dermatol Syphilol 31:365-370, 1935
    • (1935) Arch Dermatol Syphilol , vol.31 , pp. 365-370
    • Cannon, A.B.1
  • 3
    • 0027425180 scopus 로고
    • A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: Delta E375
    • Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH Jr: A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375. Hum Mol Genet November 2:1971-1972, 1993
    • (1993) Hum Mol Genet November , vol.2 , pp. 1971-1972
    • Chen, M.A.1    Bonifas, J.M.2    Matsumura, K.3    Blumenfeld, A.4    Epstein Jr., E.H.5
  • 4
    • 0032915536 scopus 로고    scopus 로고
    • Epidermolytic palmoplantar Keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix temination motif
    • Coleman CM, Munro CS, Smith FJD, Uitto J, McLean WHI:. Epidermolytic palmoplantar Keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix temination motif. Br J Dermatol 140:815-828, 1999
    • (1999) Br J Dermatol , vol.140 , pp. 815-828
    • Coleman, C.M.1    Munro, C.S.2    Smith, F.J.D.3    Uitto, J.4    McLean, W.H.I.5
  • 6
    • 0025341392 scopus 로고
    • Elucidating the early stages of keratin filament assembly
    • Coulombe PA, Fuchs E: Elucidating the early stages of keratin filament assembly. J Cell Biol 111:153-169, 1990
    • (1990) J Cell Biol , vol.111 , pp. 153-169
    • Coulombe, P.A.1    Fuchs, E.2
  • 7
    • 0029826817 scopus 로고    scopus 로고
    • Epidermal keratinocytes - Genes and their regulation
    • Eckert RL, Welter JF: Epidermal keratinocytes - genes and their regulation. Cell Death Differ 3:373-383, 1996
    • (1996) Cell Death Differ , vol.3 , pp. 373-383
    • Eckert, R.L.1    Welter, J.F.2
  • 8
    • 0017080936 scopus 로고
    • White sponge nevus (leukoedema exfoliativum mucosae oris): Ultrastructural observations
    • Frithiof L, Banoczy J: White sponge nevus (leukoedema exfoliativum mucosae oris): Ultrastructural observations. Oral Surg 41:607-622, 1976
    • (1976) Oral Surg , vol.41 , pp. 607-622
    • Frithiof, L.1    Banoczy, J.2
  • 9
    • 0025239701 scopus 로고
    • The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: Use of site-specific mutagenesis and recombinant protein expression
    • Hatzfeld M, Weber K: The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression. Cell Biol 110:1199-1210, 1990
    • (1990) Cell Biol , vol.110 , pp. 1199-1210
    • Hatzfeld, M.1    Weber, K.2
  • 10
    • 0011982421 scopus 로고
    • An unusual naevus of the tongue in a five-year-old boy
    • Hyde JN: An unusual naevus of the tongue in a five-year-old boy. J Cutan Dis 27:256, 1909
    • (1909) J Cutan Dis , vol.27 , pp. 256
    • Hyde, J.N.1
  • 11
    • 0032965997 scopus 로고    scopus 로고
    • Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation
    • Irvine AD, McLean WH: Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 140:815-828, 1999
    • (1999) Br J Dermatol , vol.140 , pp. 815-828
    • Irvine, A.D.1    McLean, W.H.2
  • 13
    • 0029865563 scopus 로고    scopus 로고
    • The molecular basis for inherited bullous diseases
    • Korge BP, Krieg T: The molecular basis for inherited bullous diseases. J Mol Med 74:59-70, 1996
    • (1996) J Mol Med , vol.74 , pp. 59-70
    • Korge, B.P.1    Krieg, T.2
  • 14
    • 0027503398 scopus 로고
    • Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex
    • Letai A, Coulombe PA, McCormick MB, Yu QC, Hutton E, Fuchs E: Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natn Acad Sci USA 90:3197-3201, 1993
    • (1993) Proc Natn Acad Sci USA , vol.90 , pp. 3197-3201
    • Letai, A.1    Coulombe, P.A.2    McCormick, M.B.3    Yu, Q.C.4    Hutton, E.5    Fuchs, E.6
  • 17
    • 0018777088 scopus 로고
    • der Nevus spongiosus albus mucosae-Ubersicht und eigene Beobachtungen
    • Metz J, Metz G: der Nevus spongiosus albus mucosae-Ubersicht und eigene Beobachtungen. Z Hautkr 54:604-612, 1979
    • (1979) Z Hautkr , vol.54 , pp. 604-612
    • Metz, J.1    Metz, G.2
  • 18
    • 0025312114 scopus 로고
    • Allele frequencies and segregation of human polymorphic keratins K4 and K5
    • Mischke D, Wille G, Wild AG: Allele frequencies and segregation of human polymorphic keratins K4 and K5. Am J Hum Genet 46:548-552, 1990
    • (1990) Am J Hum Genet , vol.46 , pp. 548-552
    • Mischke, D.1    Wille, G.2    Wild, A.G.3
  • 19
    • 0023885452 scopus 로고
    • White Sponge Nevus diagnosis by light microscopic and ultrastructural cytology
    • Morris R, Gansler TS, Rudisill MT, Neville B: White Sponge Nevus diagnosis by light microscopic and ultrastructural cytology. Acta Cytol 32:357-361, 1988
    • (1988) Acta Cytol , vol.32 , pp. 357-361
    • Morris, R.1    Gansler, T.S.2    Rudisill, M.T.3    Neville, B.4
  • 23
    • 0028105617 scopus 로고
    • Apoptosis: The skin from a new perspective
    • Polakowska KR, Haake AR: Apoptosis: the skin from a new perspective. Cell Death Differ 1:19-31, 1994
    • (1994) Cell Death Differ , vol.1 , pp. 19-31
    • Polakowska, K.R.1    Haake, A.R.2
  • 24
    • 0028844205 scopus 로고
    • Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus
    • Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG: keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus. Nat Genet 11:453-455, 1995
    • (1995) Nat Genet , vol.11 , pp. 453-455
    • Richard, G.1    De Laurenzi, V.2    Didona, B.3    Bale, S.J.4    Compton, J.G.5
  • 25
    • 0026467157 scopus 로고
    • Chromosomal mapping of human cytokemin 13 gene (KRT13)
    • Romano V, Raimondi E, Bosco P, et al: Chromosomal mapping of human cytokemin 13 gene (KRT13). Genomics 14:495-497, 1992
    • (1992) Genomics , vol.14 , pp. 495-497
    • Romano, V.1    Raimondi, E.2    Bosco, P.3
  • 26
    • 0028823924 scopus 로고
    • A mutation in the mucosal keratin K4 is associated with oral white sponge nevus
    • Rugg EL, McLean WHI, Allison WE, et al: A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nat Genet 11:450-452, 1995
    • (1995) Nat Genet , vol.11 , pp. 450-452
    • Rugg, E.L.1    McLean, W.H.I.2    Allison, W.E.3
  • 28
    • 0029141336 scopus 로고
    • A model for hierarchical structure of the human epidermal cornified cell envelope
    • Steinert PM: A model for hierarchical structure of the human epidermal cornified cell envelope. Cell Death Differ 2:33-40, 1995
    • (1995) Cell Death Differ , vol.2 , pp. 33-40
    • Steinert, P.M.1
  • 29
    • 0027160195 scopus 로고
    • Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly
    • Steinert PM, Marekov LN, Fraser RD, Parry DA: Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. J Mol Biol 20:436-452, 1993a
    • (1993) J Mol Biol , vol.20 , pp. 436-452
    • Steinert, P.M.1    Marekov, L.N.2    Fraser, R.D.3    Parry, D.A.4
  • 30
    • 0027730471 scopus 로고
    • Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses
    • Steinert PM, Yang JM, Bale SJ, Compton JG: Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses. Biochem Biophys Res Commun 197:840-848, 1993b
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 840-848
    • Steinert, P.M.1    Yang, J.M.2    Bale, S.J.3    Compton, J.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.