Associated Papers
Transcriptomic analysis reveals the role of SIX1 in mouse cranial neural crest patterning and bone development.
Baxi A et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.
Lee S et al.
Scientific Reports, 2023
Merkel Cell Carcinoma Sensitivity to EZH2 Inhibition Is Mediated by SIX1 Derepression.
Gartin AK et al.
The Journal of Investigative Dermatology, 2022
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E et al.
Journal of Medical Genetics, 2022
Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.
Pao J et al.
Ajnr. American Journal of Neuroradiology, 2022
SIX1 transcription factor: A review of cellular functions and regulatory dynamics.
Rafiq A et al.
International Journal of Biological Macromolecules, 2021
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A et al.
Clinical Genetics, 2021
Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes.
Mehdizadeh T et al.
Journal of Developmental Biology, 2021
Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development.
Shah AM et al.
Disease Models & Mechanisms, 2020
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss.
Kari E et al.
Molecular Genetics & Genomic Medicine, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.
Patrick AN et al.
Nature Structural & Molecular Biology, 2013
Audiovestibular findings in a branchio-oto syndrome patient with a SIX1 mutation.
Noguchi Y et al.
Acta Oto-laryngologica, 2011
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.
Patrick AN et al.
The Journal of Biological Chemistry, 2009
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
Kochhar A et al.
Human Mutation, 2008