Rudiger syndrome 1
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.
|
24734328 |
2013 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
TP63 mutation and clefting modifier genes in an EEC syndrome family.
|
15324320 |
2004 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
C308Y mutation in exon 8 of TP63 gene was detected, which was previously described to lead only to EEC syndrome and not to any of the other allelic conditions.
|
22065614 |
2011 |
Rudiger syndrome 1
|
0.800 |
Biomarker
|
disease |
MGD |
A conserved Pbx-Wnt-p63-Irf6 regulatory module controls face morphogenesis by promoting epithelial apoptosis.
|
21982646 |
2011 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As with most other p63 mutations in EEC syndrome, this mutation has arisen de novo and is located within the core DNA-binding domain of p63.
|
11012604 |
2000 |
Rudiger syndrome 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.
|
26891374 |
2016 |
Rudiger syndrome 1
|
0.800 |
Biomarker
|
disease |
MGD |
DeltaNp63 plays an anti-apoptotic role in ventral bladder development.
|
17079275 |
2006 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome.
|
22056627 |
2012 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mis-sense mutations in the DNA-binding domain of the p63 gene have recently been established as the molecular basis for the autosomal dominant EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome.
|
11903230 |
2002 |
Rudiger syndrome 1
|
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 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.
|
22607287 |
2012 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous p63 mutations cause the EEC syndrome and result in visual impairment owing to progressive LSCD.
|
21959367 |
2012 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this paper we describe a 17-year-old girl affected by ectrodactyly-ectodermal dysplasia-clefting syndrome with a de novo p63 mutation that predicts a heterozygous missense substitution (arginine to tryptophan substitution caused by a cytosine to thymine transition) at the amino acid 304 (R304W) of the p63 DNA-binding domain.
|
20180707 |
2010 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene.
|
29477592 |
2018 |
Rudiger syndrome 1
|
0.800 |
Biomarker
|
disease |
MGD |
Loss of p63 expression is associated with tumor progression in bladder cancer.
|
12368193 |
2002 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 gene are found in a number of human syndromes, including ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), Hay-Wells syndrome and in non-syndromic split-hand/split-foot malformation (SHFM).
|
11929852 |
2002 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2].
|
18603493 |
2008 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome.
|
30566872 |
2018 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of p63 also cause the ectodermal dysplasia-ectrodactyly-cleft lip/palate (EEC) syndrome, comprising SHFM.
|
24569166 |
2014 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of the six cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, four have manifested this distinct urological abnormality, indicative of a genotype-phenotype correlation.
|
17431922 |
2007 |
Rudiger syndrome 1
|
0.800 |
Biomarker
|
disease |
MGD |
p63 Coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract.
|
12368184 |
2002 |
Rudiger syndrome 1
|
0.800 |
Biomarker
|
disease |
MGD |
p63 is a p53 homologue required for limb and epidermal morphogenesis.
|
10227293 |
1999 |
Rudiger syndrome 1
|
0.800 |
Biomarker
|
disease |
MGD |
p63 is a prostate basal cell marker and is required for prostate development.
|
11106548 |
2000 |
Rudiger syndrome 1
|
0.800 |
Biomarker
|
disease |
MGD |
p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development.
|
10227294 |
1999 |
Rudiger syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in the TP63 transcription factor have been identified as the molecular basis of EEC syndrome and to date 34 mutations have been reported.
|
19903181 |
2010 |