A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin 10 leads to bullous congenital ichthyosiform erythroderma

被引：10
作者：
Ishiko, A [1 ]
Akiyama, M
Takizawa, Y
Nishikawa, T
Shimizu, Y
Shimizu, H
机构：
[1] Keio Univ, Sch Med, Dept Dermatol, Tokyo, Japan
[2] Teikyo Univ, Sch Med, Dept Dermatol, Tokyo, Japan
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2001年 / 116卷 / 06期
关键词：
D O I：
10.1046/j.0022-202x.2001.01382.x
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：991 / 992
页数：2
相关论文
共 9 条
  • [1] BROCQ L, 1902, ANN DERMATOL SYPHIL, V4, P1
  • [2] A LEUCINE-]PROLINE MUTATION IN THE H1 SUBDOMAIN OF KERATIN-1 CAUSES EPIDERMOLYTIC HYPERKERATOSIS
    CHIPEV, CC
    KORGE, BP
    MARKOVA, N
    BALE, SJ
    DIGIOVANNA, JJ
    COMPTON, JG
    STEINERT, PM
    [J]. CELL, 1992, 70 (05) : 821 - 828
  • [3] GOLDSMITH LA, 1976, PROG MED GENET, V1, P185
  • [4] DO THE ENDS JUSTIFY THE MEAN - PROLINE MUTATIONS AT THE ENDS OF THE KERATIN COILED-COIL ROD SEGMENT ARE MORE DISRUPTIVE THAN INTERNAL MUTATIONS
    LETAI, A
    COULOMBE, PA
    FUCHS, E
    [J]. JOURNAL OF CELL BIOLOGY, 1992, 116 (05) : 1181 - 1195
  • [5] A MUTATIONAL HOT-SPOT IN KERATIN-10 (KRT-10) IN PATIENTS WITH EPIDERMOLYTIC HYPERKERATOSIS
    ROTHNAGEL, JA
    FISHER, MP
    AXTELL, SM
    PITTELKOW, MR
    ANTONLAMPRECHT, I
    HUBER, M
    HOHL, D
    ROOP, DR
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 2147 - 2150
  • [6] MUTATIONS IN THE ROD DOMAINS OF KERATIN-1 AND KERATIN-10 IN EPIDERMOLYTIC HYPERKERATOSIS
    ROTHNAGEL, JA
    DOMINEY, AM
    DEMPSEY, LD
    LONGLEY, MA
    GREENHALGH, DA
    GAGNE, TA
    HUBER, M
    FRENK, E
    HOHL, D
    ROOP, DR
    [J]. SCIENCE, 1992, 257 (5073) : 1128 - 1130
  • [7] KERATIN INTERMEDIATE FILAMENT STRUCTURE - CROSS-LINKING STUDIES YIELD QUANTITATIVE INFORMATION ON MOLECULAR DIMENSIONS AND MECHANISM OF ASSEMBLY
    STEINERT, PM
    MAREKOV, LN
    FRASER, RDB
    PARRY, DAD
    [J]. JOURNAL OF MOLECULAR BIOLOGY, 1993, 230 (02) : 436 - 452
  • [8] MUTANT KERATIN EXPRESSION IN TRANSGENIC MICE CAUSES MARKED ABNORMALITIES RESEMBLING A HUMAN GENETIC SKIN-DISEASE
    VASSAR, R
    COULOMBE, PA
    DEGENSTEIN, L
    ALBERS, K
    FUCHS, E
    [J]. CELL, 1991, 64 (02) : 365 - 380
  • [9] A NOVEL MUTATION OF LEU(122) TO PHE AT A HIGHLY CONSERVED HYDROPHOBIC RESIDUE IN THE HELIX INITIATION MOTIF OF KERATIN-14 IN EPIDERMOLYSIS-BULLOSA SIMPLEX
    YAMANISHI, K
    MATSUKI, M
    KONISHI, K
    YASUNO, H
    [J]. HUMAN MOLECULAR GENETICS, 1994, 3 (07) : 1171 - 1172
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