|
Hay-Wells syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hay-Wells syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Hay-Wells syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hay-Wells syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hay-Wells syndrome in a child with mutation in the TP73L gene.
|
17910675 |
2007 |
|
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.
|
20738799 |
2011 |
|
Hay-Wells syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
A clinical diagnosis of ankyloblepharon-ectodermal defects-cleft lip/palate or Hay-Wells syndrome resulted in TP63 sequence analysis.
|
23610050 |
2013 |
|
Hay-Wells syndrome
|
0.800 |
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 |
|
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene.
|
29140732 |
2018 |
|
Hay-Wells syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.
|
22607287 |
2012 |
|
Hay-Wells syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene.
|
19676059 |
2009 |
|
Hay-Wells syndrome
|
0.800 |
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 |
|
Hay-Wells syndrome
|
0.800 |
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 |
|
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63.
|
28513979 |
2017 |
|
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For example, it has been postulated that reduced desmosomal protein expression occurs in patients affected by Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), a skin fragility disorder caused by mutations in the transcription factor TP63.
|
24460201 |
2014 |
|
Hay-Wells syndrome
|
0.800 |
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 |
|
Hay-Wells syndrome
|
0.800 |
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 |
|
Hay-Wells syndrome
|
0.800 |
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 |
|
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Including this study, 42 different mutations in TP63 in RHS and AEC have now been reported, three of which are exactly the same in both syndromes.
|
20491771 |
2010 |
|
Hay-Wells syndrome
|
0.800 |
Biomarker
|
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 |
|
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TP63, mainly missense in exons 13 and 14 encoding the sterile alpha motif (SAM) and the transactivation inhibitory (TI) domains, account for 99% of mutations in individuals with AEC syndrome.
|
22740388 |
2012 |
|
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC.
|
24665072 |
2014 |
|
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the AEC and Rapp Hodgkin syndromes cluster in the 3' end of the p63 gene.
|
19676060 |
2009 |
|
Hay-Wells syndrome
|
0.800 |
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 |
|
Hay-Wells syndrome
|
0.800 |
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 |