Cleft palate with cleft lip
|
0.400 |
Biomarker
|
disease |
BEFREE |
PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.
|
31825181 |
2020 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel rare variations in IRF6 in subjects with non-syndromic cleft lip and palate and dental agenesis.
|
30195270 |
2019 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Human genetic studies showed that mutations in IRF6 lead to cleft lip and palate and mandibular abnormalities.
|
28769044 |
2017 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, DNA variation in IRF6 confers significant risk for non-syndromic cleft lip and palate.
|
28481036 |
2017 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These data provide the first mechanistic insight into the heightened caries susceptibility associated with CLP and indicate a direct role for the major CLP gene Irf6 in salivary gland development and a significant role in regulating oral immunity.
|
27927890 |
2017 |
Cleft palate with cleft lip
|
0.400 |
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 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
After correcting for multiple testing, we observed significant associations between fetal single-nucleotide polymorphisms (SNPs) at IRF6, PAX7, 8q21.3, 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP).
|
28662356 |
2017 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births).
|
26332872 |
2016 |
Cleft palate with cleft lip
|
0.400 |
Biomarker
|
disease |
BEFREE |
Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.
|
26692521 |
2016 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DNA variation in Interferon Regulatory Factor 6 (IRF6) causes Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate (CLP).
|
24442519 |
2014 |
Cleft palate with cleft lip
|
0.400 |
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 |
Cleft palate with cleft lip
|
0.400 |
Biomarker
|
disease |
BEFREE |
The association between IRF6 gene and cleft lip and palate has also been independently replicated in many populations.
|
23510002 |
2013 |
Cleft palate with cleft lip
|
0.400 |
Biomarker
|
disease |
BEFREE |
Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P.
|
23029012 |
2012 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This finding underscores the need for evaluating additional variations in IRF6 across multiple populations to better determine its role in nonsyndromic cleft lip and palate.
|
21039277 |
2010 |
Cleft palate with cleft lip
|
0.400 |
Biomarker
|
disease |
BEFREE |
IRF6 has been shown to be an important contributor to cleft lip and palate, but the functional variant leading to the defect has not yet been defined.
|
18218836 |
2008 |
Cleft palate with cleft lip
|
0.400 |
Biomarker
|
disease |
BEFREE |
Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes.
|
18209213 |
2008 |
Cleft palate with cleft lip
|
0.400 |
Biomarker
|
disease |
BEFREE |
Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.
|
17937438 |
2007 |
Cleft palate with cleft lip
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.
|
17438386 |
2007 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Variation in IRF6 contributes to nonsyndromic cleft lip and palate.
|
16096995 |
2005 |
Cleft palate with cleft lip
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified the gene that encodes interferon regulatory factor 6 (IRF6) as a candidate gene on the basis of its involvement in an autosomal dominant form of cleft lip and palate, Van der Woude's syndrome.
|
15317890 |
2004 |
Cleft palate with cleft lip
|
0.400 |
Biomarker
|
disease |
BEFREE |
Three of them--namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)--are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude's and popliteal pterygium syndromes, respectively; they are also implied in non-syndromic cleft lip and palate.
|
15479962 |
2004 |