|
Van der Woude syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
However, there is currently no data on tissue repair in adult animals and cells with reduced levels of IRF6 like in VWS.
|
31724286 |
2019 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A family history of cleft lip and palate was noted, and interferon regulatory factor 6 ( IRF6) sequencing revealed a heterozygous variant, confirming the diagnosis of van der Woude syndrome.
|
29708799 |
2019 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Members from two Van der Woude syndrome (VWS) families were screened to determine the prevalence of interferon regulatory factor 6 (IRF6) as a disease‑causing gene and to analyze the interrelationships between patient genotype and phenotype.
|
29115498 |
2018 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Variants in IRF6 can lead to Van der Woude syndrome and popliteal pterygium syndrome.
|
29913133 |
2018 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the transcription factor interferon regulatory factor 6 gene (IRF6) have been identified in individuals with VWS.
|
27243668 |
2017 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1 R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP).
|
28767310 |
2017 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Samples from children with VWS harboring IRF6 mutations (n = 2) were compared with samples from children with NSCLP (n = 7).
|
27115562 |
2017 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome.
|
26332872 |
2016 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in IRF6 (Interferon Regulatory Factor 6) and GRHL3 (Grainyhead-like 3) cause Van der Woude syndrome, which includes CL/P.
|
26692521 |
2016 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Van der Woude Syndrome and Popliteal pterygium syndrome are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6.
|
27286731 |
2016 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P.
|
27129939 |
2016 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs.
|
26346622 |
2016 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We screened the IRF6 gene in eight families with clinical recognition of Van der Woude syndrome and popliteal pterygium syndrome.
|
25489771 |
2015 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Although more than 200 IRF6 mutations have been identified in VWS, a p.Arg412X nonsense mutation is particularly prevalent.
|
25784454 |
2015 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To test whether DNA variants in regulatory elements cause VWS, we sequenced three conserved elements near IRF6 in 70 VWS families that lack an etiologic mutation within IRF6 exons.
|
24442519 |
2014 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate.
|
24360809 |
2014 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
IRF6 gene mutation was detected in six of the seven new VWS/PPS families.
|
23394314 |
2014 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.
|
23713753 |
2014 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.
|
21995291 |
2013 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Although mutations causing Van der Woude syndrome or popliteal pterygium syndrome were nonrandomly distributed with significantly increased frequencies in the DNA-binding domain (P = 0.0001), variants found in controls were rare and evenly distributed in IRF6.
|
23154523 |
2013 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Taken together, the presence of deleterious IRF6 variants in patients with non-syndromic oral clefts could be most likely an evidence for VWS.
|
22440537 |
2012 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
IRF6 mutations were identified in four out of five VWS families examined, which strongly suggests that mutations in IRF6 are responsible for VWS in this population.
|
21468557 |
2011 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the interferon regulatory factor 6 (IRF6) gene are known to cause van der Woude syndrome (VWS), a common syndromic form of oro-facial clefting characterized by the familial occurrence of mixed clefting (cleft lip with or without a cleft palate and cleft palate alone in the same family) and lower lip pits.
|
21082654 |
2010 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Additionally, the identification of the same mutations responsible for VWS in Pakistan, as reported in other global populations worldwide, marks these residues as mutational hotspots and indicates their essential role in structural stability or function of IRF6.
|
20184620 |
2010 |
|
Van der Woude syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the interferon regulatory factor 6 gene (IRF6) cause either popliteal pterygium syndrome (PPS) or Van der Woude syndrome (VWS), allelic autosomal dominant orofacial clefting conditions.
|
20803643 |
2010 |