| 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 |
| 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 |
| 2012 | Expression of anion exchangers in cultured human endolymphatic sac epithelia | OTOLOGY & NEUROTOLOGY |
| 2005 | Expression of Na+/H+ exchanger isoforms in normal human nasal epithelial cells and functional activity of Na+/H+ exchanger 1 in intracellular pH regulation | ACTA OTO-LARYNGOLOGICA |
| 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 |
| 2010 | House dust mite extract activates apical Cl(-) channels through protease-activated receptor 2 in human airway epithelia | JOURNAL OF CELLULAR BIOCHEMISTRY |
| 2022 | In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model
| THERANOSTICS |
| 2007 | Interleukin-1β upregulates Na+-K+-2Cl− cotransporter in human middle ear epithelia | JOURNAL OF CELLULAR BIOCHEMISTRY |
| 2021 | LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea | HEARING RESEARCH |
| 2004 | Membrane-specific expression of functional purinergic receptors in normal human nasal epithelial cells
| AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY |
| 2007 | Molecular and functional expression of anion exchangers in cultured normal human nasal epithelial cells | ACTA PHYSIOLOGICA SCANDINAVICA |
| 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 |
| 2023 | Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2004 | Purinergic Stimulation Induces Ca2+-dependent Activation of Na+-K+-2Cl- Cotransporter in Human Nasal Epithelia
| JOURNAL OF BIOLOGICAL CHEMISTRY |
| 2019 | Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment | Experimental and Molecular Medicine |
| 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 |
| 2022 | TMED3 Complex Mediates ER Stress-Associated Secretion of CFTR, Pendrin, and SARS-CoV-2 Spike
| ADVANCED SCIENCE |
| 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 |
| 2011 | 사람중이점막세포에서 Uridine-5’-Triphosphate 자극에 의한 Cystic Fibrosis Transmembrane
Conductance Regulator와 Ca2+-Activated Chloride Channel을 통한 Chloride 분비 활성화
| Korean Journal of Otorhinolaryngology-Head and Neck Surgery |
