Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.

Stem cells (Dayton, Ohio) - 1 Jun 2016

Barbaro Vanessa, Nasti Annamaria A, Del Vecchio Claudia, Ferrari Stefano, Migliorati Angelo, Raffa Paolo, Lariccia Vincenzo, Nespeca Patrizia, Biasolo Mariangela, Willoughby Colin E, Ponzin Diego, Palù Giorgio, Parolin Cristina, Di Iorio Enzo

Abstract excerpt

Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare autosomal dominant disease caused by heterozygous mutations in the p63 gene and characterized by limb defects, orofacial clefting, ectodermal dysplasia, and ocular defects. Patients develop progressive total bilateral limbal stem cell deficiency, which eventually results in corneal blindness. Medical and surgical treatments are ineffective and of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Cycle Checkpoints
Share to Cell Self Renewal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Lip

Share to Cleft Palate

Share to Ectodermal Dysplasia

Share to Limbus Corneae

Share to Mouth Mucosa

Share to Oligonucleotides

Source

Identifiers

PMID: 26891374
DOI: 10.1002/stem.2343

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.PMID 26891374Read ↗

Selective Disruption of Mutant TP63 Alleles Restores Corneal Epithelial proliferation in EEC SyndromeSemantic proximity Read ↗

Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity.Semantic proximity Read ↗

Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.Semantic proximity Read ↗

Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.Semantic proximity Read ↗

Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene.Semantic proximity Read ↗

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.Semantic proximity Read ↗

Effects of small interfering RNA-mediated silencing of susceptibility genes of non-syndromic cleft lip with or without cleft palate on cell proliferation and migration.Semantic proximity Read ↗

Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.Semantic proximity Read ↗

Generation of a transgene-free induced pluripotent stem cells line (UNIPDi002-A) from oral mucosa epithelial stem cells carrying the R304Q mutation in TP63 gene.Semantic proximity Read ↗

Targeted p63 isoform switch corrects dominant mutations in AEC syndrome without disrupting epidermal homeostasisSemantic proximity Read ↗

Single-cell RNA-seq identifies a reversible epithelial-mesenchymal transition in abnormally specified epithelia of p63 EEC syndromeSemantic proximity Read ↗

Ectodermal dysplasias: the p63 tail.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.