Browsing by Yonsei Author : Gee, Heon Yung

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Name:
Gee, Heon Yung [지헌영]
orcid http://orcid.org/0000-0002-8741-6177
Department :
College of Medicine (의과대학) - Dept. of Pharmacology (약리학교실)
Scopus ID :
Scopus (55280029300)

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Issue DateTitleJournal Title
2022Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains BIOMEDICINES
2022In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model THERANOSTICS
2022Genome-wide association study identifies TNFSF15 associated with childhood asthmaALLERGY
2021Insulin-activated store-operated Ca 2+ entry via Orai1 induces podocyte actin remodeling and causes proteinuria NATURE COMMUNICATIONS
2021CRISPR-Cas9 In Vivo Gene Editing for Transthyretin AmyloidosisNEW ENGLAND JOURNAL OF MEDICINE
2021LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochleaHEARING RESEARCH
2021Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss EXPERIMENTAL AND MOLECULAR MEDICINE
2021Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implantHEARING RESEARCH
2021Microbiome analysis reveals that Ralstonia is responsible for decreased renal function in patients with ulcerative colitis CLINICAL AND TRANSLATIONAL MEDICINE
2021Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2021Dynamic Chronological Changes in Serum Triglycerides Are Associated With the Time Point for Non-alcoholic Fatty Liver Disease Development in the Nationwide Korean Population Cohort FRONTIERS IN MEDICINE
2020The incidence rates and risk factors of Parkinson disease in patients with psoriasis: A nationwide population-based cohort studyJOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
2020ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid TreatmentJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
2020Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic reviewAUTOIMMUNITY REVIEWS
2020SGLT2 Inhibition Modulates NLRP3 Inflammasome Activity via Ketones and Insulin in Diabetes With Cardiovascular Disease NATURE COMMUNICATIONS
2020PLCE1 Regulates the Migration, Proliferation, and Differentiation of Podocytes EXPERIMENTAL AND MOLECULAR MEDICINE
2020Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation BIOMOLECULES
2020Grasp55 -/- Mice Display Impaired Fat Absorption and Resistance to High-Fat Diet-Induced Obesity NATURE COMMUNICATIONS
2020Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory RehabilitationEAR AND HEARING
2019Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis NATURE COMMUNICATIONS
2019Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes SCIENTIFIC REPORTS
2019Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndromeKIDNEY INTERNATIONAL
2019Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairmentExperimental and Molecular Medicine
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2019Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasisHuman Genetics
2019The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report BMC MEDICAL GENETICS
2019Mutations of ADAMTS9 Cause Nephronophthisis-Related CiliopathyAMERICAN JOURNAL OF HUMAN GENETICS
2019A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activatorsHUMAN MUTATION
2019A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunctionEUROPEAN JOURNAL OF MEDICAL GENETICS
2018Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review BIOMED RESEARCH INTERNATIONAL
2018Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss SCIENTIFIC REPORTS
2018Specific autophagy and ESCRT components participate in the unconventional secretion of CFTRAUTOPHAGY
2018Unconventional secretion of transmembrane proteinsSEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
2018Expression of YAP and TAZ in molluscum contagiosum virus infected skinBRITISH JOURNAL OF DERMATOLOGY
2018Recent advances of animal model of focal segmental glomerulosclerosisCLINICAL AND EXPERIMENTAL NEPHROLOGY
2018Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseasesJOURNAL OF CELL SCIENCE
2018A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes CELL REPORTS
2018Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment NATURE COMMUNICATIONS
2018ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms PLOS GENETICS
2018Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single centerPEDIATRIC NEPHROLOGY
2018Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discoveryATHEROSCLEROSIS
2018Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic SyndromeCLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
2018Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisKIDNEY INTERNATIONAL
2018A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinomaCELL BIOLOGY INTERNATIONAL
2017A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adultsCLINICAL GENETICS
2017Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome JOURNAL OF CLINICAL INVESTIGATION
2017Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report BMC MEDICAL GENETICS
2017ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancerBRITISH JOURNAL OF CANCER
2017Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus SyndromeJAMA OPHTHALMOLOGY
2017Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly NATURE GENETICS
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