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소속

  • 약리학교실

직위

  • 조교수

연구실 위치

  • 에비슨의생명연구센터 225호

전화/팩스

  • 02-2228-0755 /

학력사항

  • 2000.02 한국과학기술원(KAIST) 생물과학과 학사
    2002.02 한국과학기술원(KAIST) 생물과학과 석사
    2006.02 연세대학교 의과대학 의학과 의학사
    2011.02 연세대학교 의과대학 의과학과 박사

교육 및 연구 경력

  • 2011. 연세대학교 의과대학 약리학교실 강사
    2011-2013 Research fellow, University of Michigan, Ann Arbor
    2013 Research fellow, Boston Children’s Hospital
    2013-2015 Instructor, Boston Children’s Hospital & Harvard Medical School
    2015-현재 연세대학교 의과대학 약리학교실 조교수

논문

  • Synaptic Scaffolding Molecule Binds to and Regulates Vasoactive Intestinal Polypeptide Type-1 Receptor in Epithelial Cells
    Gastroenterology 137/2 :607-617,2009
  • PDZ-based adaptor proteins in epithelial anion transport and VIP receptor regulation
    The Journal Of Medical Investigation : Jmi 56/1 :302-305,2009
  • The 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 25/1 :166-171,2010
  • House Dust Mite Extract Activates Apical Cl- Channels Through Protease-Activated Receptor 2 in Human Airway Epithelia
    Journal Of Cellular Biochemistry 109/ :1254-1263,2010
  • Syntaxin 16 Binds to Cystic Fibrosis Transmembrane Conductance Regulator and Regulates Its Membrane Trafficking in Epithelial Cells
    The Journal of biological chemistry 285/46 :35519-35527,2010
  • Rescue of Delta F508-CFTR Trafficking via a GRASP-Dependent Unconventional Secretion Pathway
    CELL 146/5 :746-760,2011
  • A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children
    Journal of allergy and clinical immunology 128/6 :1326-1334,2011
  • A 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 133/50 :20267-20276,2011
  • 사람중이점막세포에서 Uridine-5’-Triphosphate 자극에 의한 Cystic Fibrosis Transmembrane Conductance Regulator와 Ca2+-Activated Chloride Channel을 통한 Chloride 분비 활성화
    대한이비인후과학회지 두경부외과학 54/12 :840-846,2011
  • The Cystic Fibrosis Transmembrane Conductance Regulator''s Expanding SNARE Interactome
    TRAFFIC 12/ :364-371,2011
  • Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
    NATURE 486/7402 :261-265,2012
  • Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins
    NATURE COMMUNICATIONS 3/- :1-9,2012
  • Misexpression screen delineates novel genes controlling Drosophila lifespan
    MECHANISMS OF AGEING AND DEVELOPMENT 133/5 :234-245,2012
  • Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
    CELL 150/3 :533-548,2012
  • FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
    NATURE GENETICS 44/8 :910-910,2012
  • ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
    JOURNAL OF CLINICAL INVESTIGATION 123/8 :3243-3253,2013
  • Mutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 24/6 :967-977,2013
  • ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
    AMERICAN JOURNAL OF HUMAN GENETICS 93/2 :336-345,2013
  • WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome
    CLINICAL GENETICS 84/2 :150-159,2013
  • Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
    AMERICAN JOURNAL OF HUMAN GENETICS 93/4 :711-720,2013
  • Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
    AMERICAN JOURNAL OF HUMAN GENETICS 93/4 :672-686,2013
  • Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
    AMERICAN JOURNAL OF HUMAN GENETICS 93/5 :915-925,2013
  • ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption
    JOURNAL OF CLINICAL INVESTIGATION 123/12 :5179-5189,2013
  • Shank2 mutant mice display a hypersecretory response to cholera toxin
    JOURNAL OF PHYSIOLOGY-LONDON 592/8 :1809-1821,2014
  • Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome
    AMERICAN JOURNAL OF HUMAN GENETICS 94/6 :884-890,2014
  • Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome
    AMERICAN JOURNAL OF HUMAN GENETICS 96/1 :153-161,2015
  • DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
    AMERICAN JOURNAL OF HUMAN GENETICS 96/1 :81-92,2015
  • KANK deficiency leads to pod ocyte dysfunction and nephrotic syndrome
    JOURNAL OF CLINICAL INVESTIGATION 125/6 :2375-2384,2015
  • A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 26/6 :1279-1289,2015
  • Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
    HUMAN GENETICS 134/8 :905-916,2015
  • IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
    JOURNAL OF MEDICAL GENETICS 52/10 :657-665,2015
  • Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins.
    Methods in molecular biology (Clifton, N.J.) 1270/ :137-154,2015
  • Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 27/4 :1066-1075,2016
  • Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
    JOURNAL OF MEDICAL GENETICS 53/3 :208-214,2016
  • FAT1 mutations cause a glomerulotubular nephropathy
    NATURE COMMUNICATIONS 7/0 :0-0,2016
  • Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
    CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 11/4 :664-672,2016
  • The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion
    NATURE COMMUNICATIONS 7/ :11386-,2016
  • Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
    NATURE GENETICS 48/4 :457-457,2016
  • Mutations in SLC26A1 Cause Nephrolithiasis
    AMERICAN JOURNAL OF HUMAN GENETICS 98/6 :1228-1234,2016
  • Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
    KIDNEY INTERNATIONAL 89/2 :468-475,2016
  • Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3
    SCIENTIFIC REPORTS 6/ :-,2016
  • Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
    JOURNAL OF CLINICAL INVESTIGATION 127/3 :912-928,2017
  • Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
    SCIENTIFIC REPORTS 7/ :45973-,2017
  • Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea(2006-2013)
    SCIENTIFIC REPORTS 7/1 :2804-,2017
  • Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
    AMERICAN JOURNAL OF HUMAN GENETICS 100/2 :323-333,2017
  • Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
    SCIENTIFIC REPORTS 7/1 :9146-1-9146-11,2017
  • Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
    NATURE GENETICS 49/7 :1,025-1,034,2017
  • Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract
    Investigative and Clinical Urology 58/ :S4-S13,2017
  • Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A 173A/10 :2,697-2,702,2017
  • Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
    NATURE GENETICS 49/10 :1,529-1,529,2017

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