ReviewJournal of medical genetics2002
The p63 gene in EEC and other syndromes.
Review in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
66 citing papers in PubMed, 1 synthesis or guideline pooled it, 183 citations in OpenAlex.
- Tooth agenesis and orofacial clefting: genetic brothers in arms?Human genetics · 2016Pooled it
- Deletions and loss-of-function variants in TP63 associated with orofacial clefting.European journal of human genetics : EJHG · 2019Trial
- Article
- Ectrodactyly and bilateral cleft lip palate in a 2-year-old boy: a rare case report.International journal of surgery case reports · 2026Article
- A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature.Molecular syndromology · 2025Article
- Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes.Journal of clinical medicine · 2023Article
- Article
- Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality.Frontiers in genetics · 2023Article
- Mutant Ras and inflammation-driven skin tumorigenesis is suppressed via a JNK-iASPP-AP1 axis.Cell reports · 2022Article
- Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.Frontiers in genetics · 2022Article
- DNA-based eyelid trait prediction in Chinese Han population.International journal of legal medicine · 2021Article
- SPT6 promotes epidermal differentiation and blockade of an intestinal-like phenotype through control of transcriptional elongation.Nature communications · 2021Article
- DNA Damaged Induced Cell Death in Oocytes.Molecules (Basel, Switzerland) · 2020Review
- p63-related signaling at a glance.Journal of cell science · 2020Review
- Unraveling cancer lineage drivers in squamous cell carcinomas.Pharmacology & therapeutics · 2020Review
- Single-cell RNA-seq identifies a reversible mesodermal activation in abnormally specified epithelia of p63 EEC syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Control of p53-dependent transcription and enhancer activity by the p53 family member p63.The Journal of biological chemistry · 2019Article
- Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single pointPostepy dermatologii i alergologii · 2019Article
- p63 establishes epithelial enhancers at critical craniofacial development genes.Science advances · 2019Article
- Sweating ability of patients with p63-associated syndromes.European journal of pediatrics · 2018Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The p63 syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic split hand/foot malformation. The pattern of heterozygous mutations is distinct for each of these syndromes. The functional effects on the p63 proteins also vary between syndromes. In all of these syndromes, the mutation appears to have both dominant negative and gain of function effects rather than causing a simple loss of function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.