Associated Papers
Genetic variant classification by predicted protein structure: A case study on IRF6.
Murali H et al.
Computational and Structural Biotechnology Journal, 2024
Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.
Caetano da Silva C et al.
Communications Biology, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
Interferon regulatory factor 6 is required for proper wound healing in vivo.
Rhea L et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.
Parada-Sanchez MT et al.
Journal of Dental Research, 2017
Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.
Li EB et al.
Plos Genetics, 2017
Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome.
Hixon K et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2017
The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.
Gowans LJ et al.
Molecular Genetics & Genomic Medicine, 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
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
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
de Lima RL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Kondo S et al.
Nature Genetics, 2002