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 |
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 |
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 |
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 |
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 |
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 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 |
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 |
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 |
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 |
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 |
Split-Hand/Foot Malformation
|
0.100 |
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 |
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Many of the inherited ectrodactyly syndromes are now known to be due to mutations in the p63 gene.
|
12164578 |
2002 |
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These phenotypes resemble human malformations and in this review we describe the underlying mechanisms and clinical associations of split hand/foot malformation and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, which have both been associated with mutations in the p63 gene.
|
11595015 |
2001 |
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
|
11462173 |
2001 |
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, the human p63 gene is mutated in children who have the disease Ectrodactyly, Ectodermal dysplasia and facial Clefts (EEC) syndrome, and the disease phenotype is similar to the one of p63-deficient mice.
|
10769197 |
2000 |
Split-Hand/Foot Malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 gene have recently been delineated as the molecular basis for some cases of the ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900).
|
11012604 |
2000 |