Associated Papers
Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.
Yang CW et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024
A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.
Yang K et al.
Molecular Medicine Reports, 2020
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA et al.
Molecular Genetics & Genomic Medicine, 2020
MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.
Gajera M et al.
Bmc Medical Genomics, 2019
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Kim J et al.
Scientific Reports, 2018
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M et al.
Human Genetics, 2016
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
Leslie EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
Matsuzawa N et al.
American Journal of Medical Genetics. Part A, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Desmyter L et al.
Molecular Syndromology, 2010
Protein sequences encode safeguards against aggregation.
Reumers J et al.
Human Mutation, 2009
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
Little HJ et al.
Human Molecular Genetics, 2009
A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.
Brosch S et al.
International Journal of Molecular Medicine, 2007
A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.
Matsuzawa N et al.
Journal of Dental Research, 2006
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.
Peyrard-Janvid M et al.
European Journal of Human Genetics : Ejhg, 2005
Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome.
Ye XQ et al.
International Journal of Molecular Medicine, 2005
[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province].
Wang XF et al.
Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2005
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Mostowska A et al.
Human Genetics, 2005
Novel mutations in the IRF6 gene for Van der Woude syndrome.
Wang X et al.
Human Genetics, 2003