X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle
<p>Abstract</p> <p>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 g...
| Main Authors: | , , |
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| Format: | Article |
| Language: | deu |
| Published: |
BMC
2003-06-01
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| Series: | Genetics Selection Evolution |
| Subjects: | |
| Online Access: | http://www.gsejournal.org/content/35/S1/S137 |
| _version_ | 1819086524000501760 |
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| author | Drögemüller Cord Distl Ottmar Leeb Tosso |
| author_facet | Drögemüller Cord Distl Ottmar Leeb Tosso |
| author_sort | Drögemüller Cord |
| collection | DOAJ |
| description | <p>Abstract</p> <p>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 (<it>ED1</it>) gene are responsible for X-linked anhidrotic ectodermal dysplasia. The <it>ED1 </it>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.</p> |
| first_indexed | 2024-12-21T21:21:37Z |
| format | Article |
| id | doaj.art-74b372f649f74016be86c8b6df52d13b |
| institution | Directory Open Access Journal |
| issn | 0999-193X 1297-9686 |
| language | deu |
| last_indexed | 2024-12-21T21:21:37Z |
| publishDate | 2003-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Genetics Selection Evolution |
| spelling | doaj.art-74b372f649f74016be86c8b6df52d13b2022-12-21T18:49:52ZdeuBMCGenetics Selection Evolution0999-193X1297-96862003-06-0135Suppl 1S137S14510.1186/1297-9686-35-S1-S137X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattleDrögemüller CordDistl OttmarLeeb Tosso<p>Abstract</p> <p>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 (<it>ED1</it>) gene are responsible for X-linked anhidrotic ectodermal dysplasia. The <it>ED1 </it>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.</p>http://www.gsejournal.org/content/35/S1/S137ED1ectodysplasincomparative bovine genome mappinghypotrichosisanodontia |
| spellingShingle | Drögemüller Cord Distl Ottmar Leeb Tosso X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle Genetics Selection Evolution ED1 ectodysplasin comparative bovine genome mapping hypotrichosis anodontia |
| title | X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle |
| title_full | X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle |
| title_fullStr | X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle |
| title_full_unstemmed | X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle |
| title_short | X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle |
| title_sort | x linked anhidrotic ectodermal dysplasia ed1 in men mice and cattle |
| topic | ED1 ectodysplasin comparative bovine genome mapping hypotrichosis anodontia |
| url | http://www.gsejournal.org/content/35/S1/S137 |
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