Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea

Molecular Genetic Etiology and Revisiting the Middle Ear Surgery Outcomes of Branchio-Oto-Renal Syndrome: Experience in a Tertiary Referral Center

(2023) Dong Woo Nam et al.   OTOLOGY & NEUROTOLOGY

Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

(2022) Masatsugu Masuda et al.   Scientific Reports

Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers

(2022) Hyung Dong Jo et al.   Biomedicines

Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development

(2021) Andre L. P. Tavares et al.   DEVELOPMENT

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

(2021) Sang-Yeon Lee et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

(2021) Mayher J. Patel et al.   GENETICS IN MEDICINE

Highly accurate protein structure prediction with AlphaFold

(2021) John Jumper et al.   NATURE

Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome

(2021) Haifeng Feng et al.   Frontiers in Genetics

Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development

(2020) Ankita M. Shah et al.   Disease Models & Mechanisms

Modeling the transport of nuclear proteins along single skeletal muscle cells

(2020) Hermes Taylor-Weiner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss

(2020) Sang‐Yeon Lee et al.   HUMAN MUTATION

Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans

(2019) Sang-Yeon Lee et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation

(2019) Sang-Yeon Lee et al.   Clinical and Experimental Otorhinolaryngology

The Human Transcription Factors

(2018) Samuel A. Lambert et al.   CELL

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

(2018) Yan-gong Wang et al.   BMC Medical Genetics

Intrinsic DNA Shape Accounts for Affinity Differences between Hox-Cofactor Binding Sites

(2018) Tim Zeiske et al.   Cell Reports

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

(2018) Andrea M. Oza et al.   HUMAN MUTATION

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

(2016) Denise Yan et al.   HUMAN GENETICS

Structure-function analyses of the human SIX1–EYA2 complex reveal insights into metastasis and BOR syndrome

(2013) Aaron N Patrick et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

EYA1 and SIX1 drive the neuronal developmental program in cooperation with the SWI/SNF chromatin-remodeling complex and SOX2 in the mammalian inner ear

(2012) M. Ahmed et al.   DEVELOPMENT

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans

(2011) Mohamed Ali Mosrati et al.   European Journal of Medical Genetics

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

(2010) Pauline Krug et al.   HUMAN MUTATION

An efficient one-step site-directed deletion, insertion, single and multiple-site plasmid mutagenesis protocol

(2009) Huanting Liu et al.   BMC BIOTECHNOLOGY

Biochemical and Functional Characterization of SixSIX1Branchio-oto-renal Syndrome Mutations

(2009) Aaron N. Patrick et al.   JOURNAL OF BIOLOGICAL CHEMISTRY