Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Genetic variant classification by predicted protein structure: A case study on IRF6.
Murali H et al.
Computational and Structural Biotechnology Journal, 2024
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 Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.
Slavec L et al.
International Journal of Molecular Sciences, 2023
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
Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.
Li EB et al.
Plos Genetics, 2017
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
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 IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.
Kayano S et al.
Journal of Human Genetics, 2003