Browsing by Yonsei Author : Gee, Heon Yung

Gee, Heon Yung [지헌영]
Department :
College of Medicine (의과대학) - Dept. of Pharmacology (약리학교실)
(Yonsei Health Research Network)
Scopus ID :

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Issue DateTitleJournal Title
2016FAT1 mutations cause a glomerulotubular nephropathy NATURE COMMUNICATIONS
2016Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
2016Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies JOURNAL OF MEDICAL GENETICS
2016Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or NephrocalcinosisCLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
2015KANK deficiency leads to podocyte dysfunction and nephrotic syndrome JOURNAL OF CLINICAL INVESTIGATION
2015Defects of CRB2 cause steroid-resistant nephrotic syndrome AMERICAN JOURNAL OF HUMAN GENETICS
2015Analysis of conventional and unconventional trafficking of CFTR and other membrane proteinsMethods in Molecular Biology (Clifton, N.J.)
2015DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling AMERICAN JOURNAL OF HUMAN GENETICS
2015A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndromeJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
2015IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype JOURNAL OF MEDICAL GENETICS
2015Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract HUMAN GENETICS
2014Mutations in EMP2 cause childhood-onset nephrotic syndrome AMERICAN JOURNAL OF HUMAN GENETICS
2014Mutations of CEP83 cause infantile nephronophthisis and intellectual disability AMERICAN JOURNAL OF HUMAN GENETICS
2014Shank2 mutant mice display a hypersecretory response to cholera toxinJOURNAL OF PHYSIOLOGY-LONDON
2013Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia AMERICAN JOURNAL OF HUMAN GENETICS
2013ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling JOURNAL OF CLINICAL INVESTIGATION
2013ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6 AMERICAN JOURNAL OF HUMAN GENETICS
2013Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotypeJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
2013WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome CLINICAL GENETICS
2013Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans AMERICAN JOURNAL OF HUMAN GENETICS
2013Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms AMERICAN JOURNAL OF HUMAN GENETICS
2013ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption JOURNAL OF CLINICAL INVESTIGATION
2012FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair NATURE GENETICS
2012Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling CELL
2012Misexpression screen delineates novel genes controlling Drosophila lifespan MECHANISMS OF AGEING AND DEVELOPMENT
2012Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins NATURE COMMUNICATIONS
2012Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor functionNATURE
2011사람중이점막세포에서 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
2011A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean childrenJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
2011A small molecule that binds to an ATPase domain of Hsc70 promotes membrane trafficking of mutant cystic fibrosis transmembrane conductance regulator.JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
2011The cystic fibrosis transmembrane conductance regulator's expanding SNARE interactomeTRAFFIC
2010Syntaxin 16 binds to cystic fibrosis transmembrane conductance regulator and regulates its membrane trafficking in epithelial cells. JOURNAL OF BIOLOGICAL CHEMISTRY
2010The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis JOURNAL OF KOREAN MEDICAL SCIENCE
2010House dust mite extract activates apical Cl(-) channels through protease-activated receptor 2 in human airway epitheliaJOURNAL OF CELLULAR BIOCHEMISTRY
2009PDZ-based adaptor proteins in epithelial anion transport and VIP receptor regulation Journal of Medical Investigation
2009Synaptic scaffolding molecule binds to and regulates vasoactive intestinal polypeptide type-1 receptor in epithelial cells.GASTROENTEROLOGY