UVRAG, UV radiation resistance associated, 7405

N. diseases: 336; N. variants: 5
Disease: Hay-Wells syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE Here, we show that multiple AEC-associated p63 mutations, but not those causative of other diseases, lead to thermodynamic protein destabilization, misfolding, and aggregation, similar to the known p53 gain-of-function mutants found in cancer. 29339502 2018
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. 28513979 2017
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 AlteredExpression disease BEFREE Collectively, advancement in understanding the molecular mechanisms by which epidermal cell junctions precisely exert their functions and how p63 orchestrates their coordinated expression, will ultimately lead to insight into developing future strategies for the treatment of AEC syndrome and more in generally for diseases that share an overlapping phenotype. 25645146 2015
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE The third hallmark of the EEC syndrome is orofacial clefting, in particular lip and palate. p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance AEC syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in LMS syndrome and in ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome). 23407076 2013
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 Biomarker disease BEFREE Our study reveals that p63 is a crucial regulator of a subset of desmosomal genes and that this function is impaired in AEC syndrome. 23108156 2013
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE To investigate how p63 gene mutations affect gene and protein expression in AEC syndrome skin. 22329826 2012
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 Biomarker disease BEFREE These findings establish a functional link between FGF signalling and p63 in the expansion of epithelial progenitor cells and provide mechanistic insights into the pathogenesis of AEC syndrome. 22247000 2012
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE Here, we characterize the transcriptional activity and protein stability of ΔNp63 mutants (that is, mutants of a p63 isoform that lacks the N-terminal transactivation domain) that are found in ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC), ankyloblepharon-ectodermal dysplasia-clefting syndrome (AEC) and nonsyndromic split-hand/split-foot malformation (SHFM). 21652629 2011
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE Several missense and heterozygous frame shift mutations, encoded within exon 13 and 14 of the p63 gene, have been identified in the p63α SAM domain in patients suffering from ankyloblepharon-ectodermal dysplasia-clefting syndrome. 21615690 2011
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions. 20738799 2011
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the AEC and Rapp Hodgkin syndromes cluster in the 3' end of the p63 gene. 19676060 2009
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE Missense mutations in the 3' end of the p63 gene are associated with either RHS (Rapp-Hodgkin syndrome) or AEC (Ankyloblepharon Ectodermal defects Cleft lip/palate) syndrome. 18364388 2008
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE We report a new point mutation in the p63 gene in a family in which the mother was initially diagnosed with Rapp-Hodgkin syndrome and her two offspring manifested ankyloblepharon, ectodermal defects, cleft lip and palate, syndrome. 16190990 2006
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome. 16679535 2006
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE The expanding p63 mutation database demonstrates that there is considerable overlap between the molecular pathology of RHS and Hay-Wells syndrome, with identical mutations in some cases, and that these two disorders may in fact be synonymous. 16532463 2006
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 Biomarker disease BEFREE The truncated p63 failed to associate with the C-terminal domain of RNA polymerase II through SRA4 protein and, therefore affected keratinocyte proliferation, differentiation and survival and may strongly contribute to AEC phenotype. 16177572 2005
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE The R555P mutation is the most carboxy-terminal of all the reported AEC missense mutations of p63. 16365259 2005
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE Natural p63 mutants, associated to the AEC syndrome, show a partial or complete lack of transactivation potential of the p57Kip2 promoter, while three other natural p63 mutants, associated to the EEC, LMS and SHFM-4 syndromes, were less affected. 16258268 2005
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon. 12932250 2003
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE Collectively, these investigations demonstrate that RHS is also caused by mutations in p63 and that the clinical similarities to AEC syndrome are paralleled by the nature of the inherent mutation. 12766194 2003
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 GeneticVariation disease BEFREE However, p63 mutations associated with the ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (Hay-Wells syndrome) were found in the p63 carboxyl-terminal region with a sterile alpha-motif. 12692135 2003
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.100 Biomarker disease BEFREE We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families. 11159940 2001