دورية أكاديمية
X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle
| العنوان: | X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle |
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| المؤلفون: | Drögemüller Cord, Distl Ottmar, Leeb Tosso |
| المصدر: | Genetics Selection Evolution, Vol 35, Iss Suppl 1, Pp S137-S145 (2003) |
| بيانات النشر: | BMC, 2003. |
| سنة النشر: | 2003 |
| المجموعة: | LCC:Animal culture LCC:Genetics |
| مصطلحات موضوعية: | ED1, ectodysplasin, comparative bovine genome mapping, hypotrichosis, anodontia, Animal culture, SF1-1100, Genetics, QH426-470 |
| الوصف: | Abstract Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle. Here, we review the cloning, mutation analyses, and functional studies of the known causative genes for the X-chromosomal anhidrotic ectodermal dysplasia (ED1) in these species. Mutations in the ectodysplasin 1 (ED1) gene are responsible for X-linked anhidrotic ectodermal dysplasia. The ED1 gene encodes a signaling molecule of the tumor necrosis factor family that is involved in development of ectodermal appendages. The bovine disorder may serve as an animal model for human ED1. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | German English French |
| تدمد: | 1297-9686 0999-193X |
| العلاقة: | http://www.gsejournal.org/content/35/S1/S137Test; https://doaj.org/toc/0999-193XTest; https://doaj.org/toc/1297-9686Test |
| DOI: | 10.1186/1297-9686-35-S1-S137 |
| الوصول الحر: | https://doaj.org/article/74b372f649f74016be86c8b6df52d13bTest |
| رقم الانضمام: | edsdoj.74b372f649f74016be86c8b6df52d13b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 12979686 0999193X |
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| DOI: | 10.1186/1297-9686-35-S1-S137 |