| 2019 | A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction | EUROPEAN JOURNAL OF MEDICAL GENETICS |
| 2019 | A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators | HUMAN MUTATION |
| 2021 | Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
| 2017 | ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer | BRITISH JOURNAL OF CANCER |
| 2020 | Bicarbonate permeation through anion channels: its role in health and disease | PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY |
| 2022 | Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains
| BIOMEDICINES |
| 2022 | COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study | HUMAN GENETICS |
| 2023 | Comprehensive Prediction Model, Including Genetic Testing, for the Outcomes of Cochlear Implantation | EAR AND HEARING |
| 2014 | Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations | CLINICAL GENETICS |
| 2022 | Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
| HUMAN GENETICS |
| 2020 | Distinct roles of stereociliary links in the nonlinear sound processing and noise resistance of cochlear outer hair cells | PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA |
| 2020 | DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model
| MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT |
| 2015 | Does calmodulin regulate the bicarbonate permeability of ANO1/TMEM16A or not?
| JOURNAL OF GENERAL PHYSIOLOGY |
| 2013 | Dynamic modulation of ANO1/TMEM16A HCO3− permeability by Ca2+/calmodulin
| PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA |
| 2023 | Genetic Characteristics and Audiological Performance After Cochlear Implantation in Patients With Incomplete Partition Type III
| CLINICAL AND EXPERIMENTAL OTORHINOLARYNGOLOGY |
| 2020 | Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation | EAR AND HEARING |
| 2017 | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
| SCIENTIFIC REPORTS |
| 2021 | Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant | HEARING RESEARCH |
| 2022 | In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model
| THERANOSTICS |
| 2021 | LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea | HEARING RESEARCH |
| 2014 | Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis.
| PLOS GENETICS |
| 2015 | Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2015 | Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion | HUMAN MUTATION |
| 2023 | Novel small molecule-mediated restoration of the surface expression and anion exchange activity of mutated pendrin causing Pendred syndrome and DFNB4
| BIOMEDICINE & PHARMACOTHERAPY |
| 2023 | Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
| CELLS(Cells) |
| 2022 | OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin
| AUTOPHAGY |
| 2023 | Overlooked KCNQ4 variants augment the risk of hearing loss
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2016 | Pore dilatation increases the bicarbonate permeability of CFTR, ANO1 and glycine receptor anion channels. | JOURNAL OF PHYSIOLOGY-LONDON |
| 2023 | Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2019 | Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment | Experimental and Molecular Medicine |
| 2020 | Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related Disorders
| CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY |
| 2014 | Role of calcium signaling in epithelial bicarbonate secretion | CELL CALCIUM |
| 2015 | Selective serotonin reuptake inhibitors facilitate ANO6 (TMEM16F) current activation and phosphatidylserine exposure | PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY |
| 2014 | Shank2 mutant mice display a hypersecretory response to cholera toxin | JOURNAL OF PHYSIOLOGY-LONDON |
| 2019 | Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
| Scientific Reports |
| 2016 | The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion.
| NATURE COMMUNICATIONS |
| 2019 | The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
| BMC MEDICAL GENETICS |
| 2017 | Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
| BMC MEDICAL GENETICS |
| 2018 | Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
| SCIENTIFIC REPORTS |
