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 |
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 |
Biomarker
|
disease |
CTD_human |
The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells or AEC) and the Rapp-Hodgkin syndrome (RHS) are rare autosomal dominant ectodermal dysplasias due to mutations in the transcription factor gene P63.
|
19239083 |
2008 |
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 |
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 |
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 |
Hay-Wells syndrome
|
0.800 |
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 |
Hay-Wells syndrome
|
0.800 |
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 |
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 |
We report 2 novel TP63 mutations resulting in AEC syndrome.
|
16365259 |
2005 |
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
|
11462173 |
2001 |
Hay-Wells syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families.
|
11159940 |
2001 |
Hay-Wells syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families.
|
11159940 |
2001 |
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 |
|
|
|