Associated Papers
Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.
Pomares AA et al.
Plos One, 2025
40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S3._Mutations_in_DLBCL__86_cases_.xlsx › Hoja1
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Soğukpınar M et al.
European Journal of Medical Genetics, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
38386321 (PubMed )
Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2
Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes.
Di Iorio E et al.
Journal of Clinical Medicine, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders.
Patel R et al.
Journal of Human Genetics, 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
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
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
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome.
Vernersson Lindahl E et al.
American Journal of Medical Genetics. Part A, 2013
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report.
Okur M et al.
Genetic Counseling (geneva, Switzerland), 2012
P63 mutations are not a major cause of non-syndromic split hand/foot malformation.
de Mollerat XJ et al.
Journal of Medical Genetics, 2003
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
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