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The American Journal of Human Genetics, 2002 Causative TP63 mutations have been identified in five distinct human developmental disorders that are characterized by various degrees of limb abnormalities, ectodermal dysplasia, and facial clefts. The distribution of mutations over the various p63 protein domains and the structural and functional implications of these mutations establish a clear ...
Bokhoven, J.H.L.M. van, Brunner, H.G.
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p63-Associated Disorders [PDF]
Cell Cycle, 2007 Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC ...
Rinne, T.K. +2 more
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p63 in epithelial development [PDF]
Cellular and Molecular Life Sciences, 2008 The epidermis, the outer layer of the skin composed of keratinocytes, is a stratified epithelium that functions as a barrier to protect the organism from dehydration and external insults. The epidermis develops following the action of the transcription factor p63, amember of the p53 family of transcription factors. The Trp63 gene contains two promoters
CANDI, ELEONORA +5 more
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Neurodevelopment on Route p63 [PDF]
Neuron, 2005 All known members of the p53 gene family, including the two homologs p73 and p63, have multiple biological functions. In neurons, p53 and p73 are known to regulate cell death in the developing and adult nervous system. A report by Jacobs et al. in this issue of Neuron shows that the more ancestral member of this gene family, p63, is an essential ...
Nicotera, Pierluigi, Melino, Gerry
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p63 and p73, the Ancestors of p53 [PDF]
Cold Spring Harbor Perspectives in Biology, 2010 p73 and p63 are two homologs of the tumor suppressive transcription factor p53. Given the high degree of structural similarity shared by the p53 family members, p73 and p63 can bind and activate transcription from the majority of the p53-responsive promoters.
Dötsch, V +4 more
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p63, a Story of Mice and Men [PDF]
Journal of Investigative Dermatology, 2011 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.
Vanbokhoven, H +3 more
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The Roles of p63 in Cancer [PDF]
Cell Cycle, 2007 p63 plays an important role in skin and limb development. This has been clearly demonstrated using mouse models and from studies on human patients harboring p63 mutations. One question that remains unanswered is whether p63 is a tumor suppressor gene or an oncogene.
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The International Journal of Developmental Biology, 2015 TP63 is the most ancient member of the p53 gene family. The p53 family comprises three transcription factors (p53/p63/p73). They share a high degree of homology and similar domain structure. Yet, they can exist as truncated isoforms. Alternative promoters and splicing sites lead to the generation of several molecules.
Gonfloni, Stefania +2 more
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MicroRNAs and p63 in epithelial stemness [PDF]
Cell Death & Differentiation, 2014 MicroRNAs (miRs) are a class of small noncoding RNAs that suppress the expression of protein-coding genes by repressing protein translation. Although the roles that miRs and the miR processing machinery have in regulating epithelial stem cell biology are not fully understood, their fundamental contributions to these processes have been demonstrated ...
Candi, E +3 more
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