L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma

被引：18

作者：

Kon, A. ^{[1
]}

Ito, N.

Kudo, Y.

Nomura, K.

Yoneda, K.

Hanada, K.

Hashimoto, I.

Takagaki, K.

机构：

[1] Hirosaki Univ, Sch Med, Dept Biochem, Hirosaki, Aomori, Japan

[2] Hirosaki Univ, Sch Med, Dept Dermatol, Hirosaki, Aomori, Japan

[3] Kagawa Univ, Fac Med, Dept Dermatol, Miki, Kagawa, Japan

[4] Aomori Rosai Hosp, Dept Dermatol, Hachinohe, Japan

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 155卷 / 03期

关键词：

epidermolytic palmoplantar; keratoderma; genodermatosis; keratin; 9; keratinocyte; missense mutation;

D O I：

10.1111/j.1365-2133.2006.07358.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

[No abstract available]

引用

页码：624 / 626

页数：3

共 8 条

[1]

Coleman CM, 1999, BRIT J DERMATOL, V140, P486

[2]

HIRASUE M, 2001, JPN J CLIN DERMATOL, V55, P501

[3] Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation [J].

Irvine, AD ;

Mclean, WHI .

BRITISH JOURNAL OF DERMATOLOGY, 1999, 140 (05) :815-828

[4] A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma [J].

Kon, A ;

Itagaki, K ;

Yoneda, K ;

Takagaki, K .

ARCHIVES OF DERMATOLOGICAL RESEARCH, 2005, 296 (08) :375-378

[5] Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic [J].

Kon, A ;

Nomura, K ;

Pulkkinen, L ;

Sawamura, D ;

Hashimoto, I ;

Uitto, J .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (05) :684-687

[6] ULTRASTRUCTURAL-CHANGES RESULTING FROM KERATIN-9 GENE-MUTATIONS IN 2 FAMILIES WITH EPIDERMOLYTIC PALMOPLANTAR KERATODERMA [J].

NAVSARIA, HA ;

SWENSSON, O ;

RATNAVEL, RC ;

SHAMSHER, M ;

MCLEAN, WHI ;

LANE, EB ;

GRIFFITHS, WAD ;

EADY, RAJ ;

LEIGH, IM .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1995, 104 (03) :425-429

[7]

REIS A, 1992, HUM GENET, V90, P113

[8] STRUCTURAL FEATURES OF KERATIN INTERMEDIATE FILAMENTS [J].

STEINERT, PM ;

NORTH, ACT ;

PARRY, DAD .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 103 (05) :S19-S24

← 1 →