Associated Papers
Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
Antunes LN et al.
Frontiers in Genetics, 2024
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E et al.
Journal of Medical Genetics, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 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
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
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
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.
Wang SH et al.
The Laryngoscope, 2012
Eya1-Six1 interaction is sufficient to induce hair cell fate in the cochlea by activating Atoh1 expression in cooperation with Sox2.
Ahmed M et al.
Developmental Cell, 2012
Audiovestibular findings in a branchio-oto syndrome patient with a SIX1 mutation.
Noguchi Y et al.
Acta Oto-laryngologica, 2011
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Krug P et al.
Human Mutation, 2011
SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation.
Nie X et al.
Development (cambridge, England), 2010
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.
Patrick AN et al.
The Journal of Biological Chemistry, 2009
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome.
Bosman EA et al.
Developmental Biology, 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
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
Sanggaard KM et al.
European Journal of Human Genetics : Ejhg, 2007
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Hoskins BE et al.
American Journal of Human Genetics, 2007
SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome.
Ito T et al.
The Laryngoscope, 2006
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf RG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.
Mosrati MA et al.
European Journal of Medical Genetics, 0