Literature DB >> 11149610

Ectodermal dysplasias: not only 'skin' deep.

M Priolo1, M Silengo, M Lerone, R Ravazzolo.   

Abstract

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.

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Year:  2000        PMID: 11149610     DOI: 10.1034/j.1399-0004.2000.580601.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  12 in total

Review 1.  Dlx genes, p63, and ectodermal dysplasias.

Authors:  Maria I Morasso; Nadezda Radoja
Journal:  Birth Defects Res C Embryo Today       Date:  2005-09

Review 2.  [Genetically induced hair diseases].

Authors:  T Wiederholt; P Poblete-Gutiérrez; J Frank
Journal:  Hautarzt       Date:  2003-07-04       Impact factor: 0.751

3.  Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia.

Authors:  Rui G Rodrigues
Journal:  J Natl Med Assoc       Date:  2005-01       Impact factor: 1.798

4.  2008 International Conference on Ectodermal Dysplasias Classification: conference report.

Authors:  Carlos F Salinas; Ronald J Jorgenson; J Timothy Wright; John J DiGiovanna; Mary D Fete
Journal:  Am J Med Genet A       Date:  2009-09       Impact factor: 2.802

5.  A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.

Authors:  Daxu Li; Ran Xu; Fumeng Huang; Biyuan Wang; Yu Tao; Zijian Jiang; Hairui Li; Jianfeng Yao; Peng Xu; Xiaokang Wu; Le Ren; Rui Zhang; John R Kelsoe; Jie Ma
Journal:  J Genet       Date:  2015-03       Impact factor: 1.166

6.  Ectodermal dysplasias: a new clinical-genetic classification.

Authors:  M Priolo; C Laganà
Journal:  J Med Genet       Date:  2001-09       Impact factor: 6.318

7.  X-linked anhidrotic ectodermal dysplasia disruption yields a mouse model for ocular surface disease and resultant blindness.

Authors:  Chang-Yi Cui; Janine A Smith; David Schlessinger; Chi-Chao Chan
Journal:  Am J Pathol       Date:  2005-07       Impact factor: 4.307

8.  Candidate EDA targets revealed by expression profiling of primary keratinocytes from Tabby mutant mice.

Authors:  Diana Esibizione; Chang-Yi Cui; David Schlessinger
Journal:  Gene       Date:  2008-09-24       Impact factor: 3.688

9.  Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia.

Authors:  Fumiyuki Yamasaki; Takeshi Takayasu; Ryo Nosaka; Hiroshi Kawaguchi; Kazuhiko Sugiyama; Masao Kobayashi; Kaoru Kurisu
Journal:  Childs Nerv Syst       Date:  2015-08-01       Impact factor: 1.475

10.  p63 Coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract.

Authors:  Tan A Ince; Aida P Cviko; Bradley J Quade; Annie Yang; Frank D McKeon; George L Mutter; Christopher P Crum
Journal:  Am J Pathol       Date:  2002-10       Impact factor: 4.307

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