Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.
Franco ALMM et al.
Computational and Structural Biotechnology Journal, 2025
Genetic variant classification by predicted protein structure: A case study on IRF6.
Murali H et al.
Computational and Structural Biotechnology Journal, 2024
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
Itai T et al.
Hgg Advances, 2024
A novel noncanonical function for IRF6 in the recycling of E-cadherin.
Antiguas A et al.
Molecular Biology of the Cell, 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
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.
Naicker T et al.
Molecular Genetics & Genomic Medicine, 2023
Congenital ankyloblepharon in a newborn with an IRF6 mutation.
Uddin O et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2023
IRF6 mutation in systemic sclerosis: innocent bystander or contributing factor?
Rademacher JG et al.
Rheumatology (oxford, England), 2022
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A et al.
Genes, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.
Jaruga A et al.
International Journal of Molecular Sciences, 2022
Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome.
Traisrisilp K et al.
Diagnostics (basel, Switzerland), 2021
Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.
Song Z et al.
Cell Death & Disease, 2021
Gene-Environment Interplay and MicroRNAs in Cleft Lip and Cleft Palate.
Iwata J
Oral Science International, 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
SPECC1L regulates palate development downstream of IRF6.
Hall EG et al.
Human Molecular Genetics, 2020
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population.
Shibano M et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2020
The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.
Oberbeck N et al.
Nature, 2019
Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature.
Eliezer DD et al.
Bmj Case Reports, 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
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
Kousa YA et al.
Human Molecular Genetics, 2019
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
Zebrafish models of orofacial clefts.
Duncan KM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2017
Grainyhead-like Transcription Factors in Craniofacial Development.
Carpinelli MR et al.
Journal of Dental Research, 2017
ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions.
Paul BJ 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
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M et al.
Human Genetics, 2016
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
Busche A et al.
American Journal of Medical Genetics. Part A, 2016
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
Leslie EJ et al.
Clinical Genetics, 2016
Toward an orofacial gene regulatory network.
Kousa YA et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2016
Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.
Charzewska A et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2015
A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes.
De Groote P et al.
Cell Death and Differentiation, 2015
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ et al.
American Journal of Medical Genetics. Part A, 2015
A Japanese family with popliteal pterygium syndrome.
Katsube M et al.
Case Reports in Plastic Surgery & Hand Surgery, 2015
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.
Ratbi I et al.
Journal of Medical Case Reports, 2014
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
Mubungu G et al.
Clinical Case Reports, 2014
Periderm prevents pathological epithelial adhesions during embryogenesis.
Richardson RJ et al.
The Journal of Clinical Investigation, 2014
Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.
Leslie EJ et al.
American Journal of Medical Genetics. Part A, 2013
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
Smad4-Irf6 genetic interaction and TGFβ-mediated IRF6 signaling cascade are crucial for palatal fusion in mice.
Iwata J et al.
Development (cambridge, England), 2013
EEC syndrome-like phenotype in a patient with an IRF6 mutation.
Kosaki R et al.
American Journal of Medical Genetics. Part A, 2012
Tp63 in oral development, neoplasia, and autoimmunity.
Romano RA et al.
Journal of Dental Research, 2012
Genetic causes of nonsyndromic cleft lip with or without cleft palate.
Yuan Q et al.
Advances in Oto-rhino-laryngology, 2011
A symphony of regulations centered on p63 to control development of ectoderm-derived structures.
Guerrini L et al.
Journal of Biomedicine & Biotechnology, 2011