Browsing by Yonsei Author : Gee, Heon Yung

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

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Issue DateTitleJournal Title
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
2019The incidence rates and risk factors of Parkinson disease in patients with psoriasis: A nationwide population-based cohort studyJOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
2019The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report BMC MEDICAL GENETICS
2019A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunctionEUROPEAN JOURNAL OF MEDICAL GENETICS
2019Mutations of ADAMTS9 Cause Nephronophthisis-Related CiliopathyAMERICAN JOURNAL OF HUMAN GENETICS
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2019Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndromeKIDNEY INTERNATIONAL
2019Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes SCIENTIFIC REPORTS
2019Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis NATURE COMMUNICATIONS
2019A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activatorsHUMAN MUTATION
2019Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasisHuman Genetics
2019Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairmentExperimental and Molecular Medicine
2018A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes CELL REPORTS
2018Unconventional secretion of transmembrane proteinsSEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
2018Specific autophagy and ESCRT components participate in the unconventional secretion of CFTRAUTOPHAGY
2018Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome JOURNAL OF CLINICAL INVESTIGATION
2018Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisKIDNEY INTERNATIONAL
2018Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic SyndromeCLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
2018Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discoveryATHEROSCLEROSIS
2018Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single centerPEDIATRIC NEPHROLOGY
2018Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment NATURE COMMUNICATIONS
2018Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseasesJOURNAL OF CELL SCIENCE
2018Recent advances of animal model of focal segmental glomerulosclerosisCLINICAL AND EXPERIMENTAL NEPHROLOGY
2018Expression of YAP and TAZ in molluscum contagiosum virus infected skinBRITISH JOURNAL OF DERMATOLOGY
2018Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss SCIENTIFIC REPORTS
2018Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review BIOMED RESEARCH INTERNATIONAL
2018A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinomaCELL BIOLOGY INTERNATIONAL
2018ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms PLOS GENETICS
2017Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease NATURE GENETICS
2017ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancerBRITISH JOURNAL OF CANCER
2017Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly NATURE GENETICS
2017Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisAMERICAN JOURNAL OF HUMAN GENETICS
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
2017Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus SyndromeJAMA OPHTHALMOLOGY
2017Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literatureAMERICAN JOURNAL OF MEDICAL GENETICS PART A
2017Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract INVESTIGATIVE AND CLINICAL UROLOGY
2017Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report BMC MEDICAL GENETICS
2017Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy SCIENTIFIC REPORTS
2017Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency JOURNAL OF CLINICAL INVESTIGATION
2017Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population SCIENTIFIC REPORTS
2017Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013) SCIENTIFIC REPORTS
2016Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. SCIENTIFIC REPORTS
2016The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion. NATURE COMMUNICATIONS
2016Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
2016Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. KIDNEY INTERNATIONAL
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