Title |
A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene
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Published in |
BMC Genomic Data, October 2011
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DOI | 10.1186/1471-2156-12-91 |
Pubmed ID | |
Authors |
Takashi Kuramoto, Mayuko Yokoe, Ryoko Hashimoto, Hiroshi Hiai, Tadao Serikawa |
Abstract |
Hypohidrotic ectodermal dysplasia (HED) is a congenital disorder characterized by sparse hair, oligodontia, and inability to sweat. It is caused by mutations in any of three Eda pathway genes: ectodysplasin (Eda), Eda receptor (Edar), and Edar-associated death domain (Edaradd), which encode ligand, receptor, and intracellular adaptor molecule, respectively. The Eda signaling pathway activates NF-κB, which is central to ectodermal differentiation. Although the causative genes and the molecular pathway affecting HED have been identified, no curative treatment for HED has been established. Previously, we found a rat spontaneous mutation that caused defects in hair follicles and named it sparse-and-wavy (swh). Here, we have established the swh rat as the first rat model of HED and successfully identified the swh mutation. |
X Demographics
Geographical breakdown
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 24 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 5 | 21% |
Student > Doctoral Student | 2 | 8% |
Student > Bachelor | 2 | 8% |
Other | 2 | 8% |
Student > Postgraduate | 2 | 8% |
Other | 5 | 21% |
Unknown | 6 | 25% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 10 | 42% |
Agricultural and Biological Sciences | 5 | 21% |
Biochemistry, Genetics and Molecular Biology | 3 | 13% |
Immunology and Microbiology | 1 | 4% |
Unknown | 5 | 21% |