p63, a Story of Mice and Men
| Autor: | Gerry Melino, Hans Vanbokhoven, Wim Declercq, Eleonora Candi |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Gene isoform
Hay–Wells syndrome Genotype Dermatology Biology medicine.disease_cause Biochemistry Mice Ectodermal Dysplasia In vivo Neoplasms Cell Adhesion medicine Animals Humans Limb development Molecular Biology Transcription factor Genetics Mutation integumentary system Epidermis (botany) Palate Settore BIO/11 Phosphoproteins Membrane Proteins Phenotype Epidermis Trans-Activators Extremities Interferon Regulatory Factors Cell Biology medicine.disease stomatognathic diseases Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6] sense organs |
| Zdroj: | Journal of Investigative Dermatology, 131, 6, pp. 1196-207 Journal of Investigative Dermatology, 131, 1196-207 |
| ISSN: | 0022-202X |
| Popis: | The transcription factor p63 is essential for the formation of the epidermis and other stratifying epithelia. This is clearly demonstrated by the severe abnormality of p63-deficient mice and by the development of certain types of ectodermal dysplasias in humans as a result of p63 mutations. Investigation of the in vivo functions of p63 is complicated by the occurrence of 10 different splicing isoforms and by its interaction with the other family members, p53 and p73. In vitro and in vivo models have been used to unravel the functions of p63 and its different isoforms, but the results or their interpretation are often contradictory. This review focuses on what mammalian in vivo models and patient studies have taught us in the last 10 years. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|