Ectodermal dysplasias: not only 'skin' deep

被引：70

作者：

Priolo, M

Silengo, M

Lerone, M

Ravazzolo, R

机构：

[1] G Gaslini Inst Children, Genet Mol Lab, I-16147 Genoa, Italy

[2] Univ Turin, Dept Paediat Sci & Adolescentol, I-10124 Turin, Italy

[3] Univ Genoa, Dept Oncol Biol & Genet, Genoa, Italy

来源：

CLINICAL GENETICS | 2000年 / 58卷 / 06期

关键词：

clinical-molecular classification; ectodermal dysplasia; epidermal derivatives development;

D O I：

10.1034/j.1399-0004.2000.580601.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings and propose a new classification of EDs integrating both molecular-genetic data and corresponding clinical findings of related diseases.

引用

收藏

页码：415 / 430

页数：16

相关论文

共 171 条

[1] TUMOR-NECROSIS-FACTOR RECEPTOR SUPERFAMILY MEMBERS AND THEIR LIGANDS [J].

ARMITAGE, RJ .

CURRENT OPINION IN IMMUNOLOGY, 1994, 6 (03) :407-413

[2] Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13 [J].

Baala, L ;

Rabia, SH ;

Zlotogora, J ;

Kabbaj, K ;

Chhoul, H ;

Munnich, A ;

Lyonnet, S ;

Sefiani, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) :651-653

[3]

BADEN HP, 1993, DERMATOLOGY GEN MED, P696

[4] The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats [J].

Bayés, M ;

Hartung, AJ ;

Ezer, S ;

Pispa, J ;

Thesleff, I ;

Srivastava, AK ;

Kere, J .

HUMAN MOLECULAR GENETICS, 1998, 7 (11) :1661-1669

[5]

Bei M, 1998, DEVELOPMENT, V125, P4325

[6]

Bertolino A, 1993, DERMATOLOGY GEN MED, P671

[7] UNRAVELING FUNCTION IN THE TNF LIGAND AND RECEPTOR FAMILIES [J].

BEUTLER, B ;

VANHUFFEL, C .

SCIENCE, 1994, 264 (5159) :667-668

[8] HEDGEHOG AND BMP GENES ARE COEXPRESSED AT MANY DIVERSE SITES OF CELL-CELL INTERACTION IN THE MOUSE EMBRYO [J].

BITGOOD, MJ ;

MCMAHON, AP .

DEVELOPMENTAL BIOLOGY, 1995, 172 (01) :126-138

[9] Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy:: Site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity [J].

Botta, E ;

Nardo, T ;

Broughton, BC ;

Marinoni, S ;

Lehmann, AR ;

Stefanini, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (04) :1036-1048

[10] MUTATION OF A TYPE-II KERATIN GENE (K6A) IN PACHYONYCHIA-CONGENITA [J].

BOWDEN, PE ;

HALEY, JL ;

KANSKY, A ;

ROTHNAGEL, JA ;

JONES, DO ;

TURNER, RJ .

NATURE GENETICS, 1995, 10 (03) :363-365

← 1 2 3 4 5 6 7 8 9 10 →