Associated Papers
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
37479820 (PubMed )
Supplement: 41598_2023_38909_MOESM1_ESM.pdf
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E et al.
Journal of Medical Genetics, 2022
33436522 (PubMed )
Supplement: jmedgenet-2020-107459supp001.pdf
SIX1 transcription factor: A review of cellular functions and regulatory dynamics.
Rafiq A et al.
International Journal of Biological Macromolecules, 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
Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders.
Moody SA et al.
Comparative Biochemistry and Physiology. Toxicology & Pharmacology : Cbp, 2015
Audiovestibular findings in a branchio-oto syndrome patient with a SIX1 mutation.
Noguchi Y et al.
Acta Oto-laryngologica, 2011
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
Select a paper to view details