Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Hizem S et al.
Ophthalmic Genetics, 2024
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
Corona-Rivera JR et al.
Molecular Syndromology, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Comprehensive Characterization of the Coding and Non-Coding Single Nucleotide Polymorphisms in the Tumor Protein p63 (TP63) Gene Using In Silico Tools.
Akter S et al.
Biomolecules, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY et al.
The Journal of Gene Medicine, 2019
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ et al.
Human Mutation, 2019
Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation.
Wawrzycki B et al.
Postepy Dermatologii I Alergologii, 2019
Sweating ability of patients with p63-associated syndromes.
Ferstl P et al.
European Journal of Pediatrics, 2018
TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes.
Chacon-Camacho OF et al.
American Journal of Medical Genetics. Part A, 2016
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation.
Su P et al.
International Journal of Colorectal Disease, 2013
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?
Maclean K et al.
American Journal of Medical Genetics. Part A, 2007
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H et al.
American Journal of Human Genetics, 2001
CircAMD1 regulates proliferation and collagen synthesis via sponging miR-27a-3p in P63-mutant human dermal fibroblasts.
Su P et al.
Differentiation; Research in Biological Diversity, 0