Article

DNA methylation effects on Van der Woude Syndrome phenotypic variability

2023-11-05

Abstract excerpt

<h4>OBJECTIVE</h4> Van der Woude Syndrome (VWS) classically presents with combinations of lip pits (LP) and orofacial clefts, with marked phenotypic discordance even amongst individuals carrying the same mutation. Such discordance suggests a possible role for epigenetic factors as phenotypic modifiers. Both IRF6 , causal for 70% of VWS cases, and TP63 interact in a regulatory loop to coordinate epithelial prolifer...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 229ab91c-5032-56ee-9ff2-490e4009dc85
DOI: 10.1101/2023.11.04.23298094

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

DNA methylation effects on Van der Woude Syndrome phenotypic variabilityDOI 10.1101/2023.11.04.23298094Read

DNA methylation differences in monozygotic twins with Van der Woude syndromeSemantic proximity Read

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndromeSemantic proximity Read

Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiologySemantic proximity Read

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6Semantic proximity Read

Distinct DNA methylation profiles in subtypes of orofacial cleft.Semantic proximity Read

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.Semantic proximity Read

Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.Semantic proximity Read

Advances in genetic mechanisms and precision medicine research for cleft lip and palate.Semantic proximity Read

Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.Semantic proximity Read

IRF6 and AP2A Interaction Regulates Epidermal Development.Semantic proximity Read

A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.Semantic proximity Read

Alterations in DNA Methylation in Orofacial CleftsSemantic proximity Read