Molecular basis of hypohidrotic ectodermal dysplasia: an update
| Autor: | Ryszard Koczorowski, Wieslaw H. Trzeciak |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Mesoderm Ectodermal dysplasia Human Genetics • Review Mesenchyme Inheritance Patterns Ectoderm Biology medicine.disease_cause 03 medical and health sciences Ectodermal Dysplasia Genetics medicine Humans Hypohidrotic ectodermal dysplasia Differentiation of skin appendages Gene Mutation integumentary system Tumor Necrosis Factor-alpha TNFα-related signaling pathway NF-kappa B General Medicine medicine.disease Cell biology 030104 developmental biology medicine.anatomical_structure embryonic structures Signal transduction Signal Transduction |
| Zdroj: | Journal of Applied Genetics |
| ISSN: | 2190-3883 1234-1983 |
| DOI: | 10.1007/s13353-015-0307-4 |
| Popis: | Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal transduction from ectoderm to mesenchyme during development of the fetus and are indispensable for the differentiation of ectoderm-derived structures such as eccrine sweat glands, teeth, hair, skin, and/or nails. Novel data were reviewed and discussed on the structure and functions of the components of TNFα-related signaling pathway, the consequences of mutations of the genes encoding these proteins, and the prospect for further investigations, which might elucidate the origin of HED. |
| Databáze: | OpenAIRE |
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