|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
|
31420900 |
2019 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Split-hand/foot malformation (SHFM) is caused by mutations in TP63, DLX5, DLX6, FGF8, FGFR1, WNT10B, and BHLHA9.
|
30101460 |
2019 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome.
|
30566872 |
2018 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes.
|
29130604 |
2018 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We show also that ΔNp63α protein stability is negatively regulated by the interaction with the prolyl-isomerase Pin1, via proteasome-mediated degradation; p63 mutant proteins associated with SHFM or EEC syndromes are resistant to Pin1 action.
|
24569166 |
2014 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation.
|
23736768 |
2013 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
|
23613309 |
2013 |
|
Split-Hand/Foot Malformation
|
0.100 |
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 |
|
Split-Hand/Foot Malformation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory element on chromosome 7q21 that controls the expression of DLX5 and DLX6 genes which are involved in craniofacial abnormalities and ectrodactyly or split hand/foot malformation (SHFM).
|
22342398 |
2012 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we showed that K193E mutation in nine affected individuals of a four-generation kindred with a large degree of phenotypic variability causes four different syndromes or TP63-related disorders: EEC, Ectrodactyly-ectodermal dysplasia (EE), isolated ectodermal dysplasia, and isolated Split Hand/Foot Malformation type 4 (SHFM4).
|
22574117 |
2012 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and isolated split hand/foot malformation, respectively.
|
22069181 |
2011 |
|
Split-Hand/Foot Malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
To test whether TP63 is the disease-causative gene for these phenotypes in Chinese, we recruited two Chinese Ectrodactyly-Ectodermal-dysplasia-Cleft lip/palate syndrome (EEC) cases and a Limb-Mammary-Syndrome (LMS) patient to carry out TP63 gene sequencing.
|
20410354 |
2010 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Subsequent screening of 21 syndromic and nonsyndromic SHFM patients (TP73L mutation negative) for rearrangements using Multiplex Ligation-dependent Probe Amplification did not detect other deletions or duplications in chromosome 19.
|
19353584 |
2009 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.
|
19663851 |
2009 |
|
Split-Hand/Foot Malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Three genes were selected for this investigation: TP63, which codes for the tumour protein p63 and causes Ectrodactyly-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for Opitz syndrome.
|
19049519 |
2008 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four of the loci were excluded, while in TP63 [tumor protein p63 (SHFM4)], the only known gene responsible for SHFM, we detected in most affected subjects a rare insertion variant (rs34201045) at the alternate promoter used for transcription of the N-terminal-truncated p63 isotype.
|
18515319 |
2008 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in p63 can also cause non-syndromic single malformations, such as split hand foot malformation (SHFM4) and isolated cleft lip (NSCL).
|
17224651 |
2007 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and split hand-foot malformation (SHFM) dysplasias.
|
17164413 |
2007 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TP63 at the SHFM4 locus are known to underlie both syndromic and non-syndromic forms SHFM, but the causes of most non-syndromic SHFM cases remain unknown.
|
16761290 |
2006 |
|
Split-Hand/Foot Malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The p63 gene has been described in five overlapping limb malformation syndromes including the EEC syndrome (ectodermal ectrodactyly clefting).
|
17041931 |
2006 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a Mexican boy with isolated ectrodactyly (split hand malformation) in whom a new mutation was identified in exon 3 of the TP63 gene.
|
15736220 |
2005 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Split hand/split foot malformation (SHFM; ectrodactyly) is genetically heterogeneous, with mutations identified at five loci (SHFM1 at 7q21.3, SHFM2 at Xq26, SHFM3 at 10q24, SHFM4 at 3q27 and SHFM5 at 2q31).
|
15232212 |
2004 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four patients with syndromic ectrodactyly had p63 heterozygous point mutations that affect the DNA binding domain of the protein.
|
14656652 |
2004 |
|
Split-Hand/Foot Malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic mapping studies in this family exclude p63 involvement and demonstrate that ectrodactyly in this pedigree is linked to the SHFM3 region on chromosome 10q24.
|
14699611 |
2004 |
|
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several ectodermal dysplasia syndromes, including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC) syndromes, are known to result from mutations in the p63 gene.
|
12766194 |
2003 |