| 2018 | Unconventional secretion of transmembrane proteins | SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY |
| 2018 | Expression of YAP and TAZ in molluscum contagiosum virus infected skin | BRITISH JOURNAL OF DERMATOLOGY |
| 2018 | Recent advances of animal model of focal segmental glomerulosclerosis | CLINICAL AND EXPERIMENTAL NEPHROLOGY |
| 2018 | Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseases | JOURNAL OF CELL SCIENCE |
| 2018 | A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
| CELL REPORTS |
| 2018 | Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
| NATURE COMMUNICATIONS |
| 2018 | ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms
| PLOS GENETICS |
| 2018 | Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center | PEDIATRIC NEPHROLOGY |
| 2018 | Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery | ATHEROSCLEROSIS |
| 2018 | Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome | CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY |
| 2018 | Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis | KIDNEY INTERNATIONAL |
| 2018 | A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma | CELL BIOLOGY INTERNATIONAL |
| 2017 | A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults | CLINICAL GENETICS |
| 2017 | Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome
| JOURNAL OF CLINICAL INVESTIGATION |
| 2017 | Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
| BMC MEDICAL GENETICS |
| 2017 | ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer | BRITISH JOURNAL OF CANCER |
| 2017 | Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome | JAMA OPHTHALMOLOGY |
| 2017 | Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
| NATURE GENETICS |
| 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 |
| 2017 | Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract
| INVESTIGATIVE AND CLINICAL UROLOGY |
| 2017 | Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
| NATURE GENETICS |
| 2017 | Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
| SCIENTIFIC REPORTS |
| 2017 | Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
| JOURNAL OF CLINICAL INVESTIGATION |
| 2017 | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
| SCIENTIFIC REPORTS |
| 2017 | Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013)
| SCIENTIFIC REPORTS |
| 2016 | Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
| SCIENTIFIC REPORTS |
| 2016 | Mutations in SLC26A1 Cause Nephrolithiasis. | AMERICAN JOURNAL OF HUMAN GENETICS |
| 2016 | Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
| NATURE GENETICS |
| 2016 | The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion.
| NATURE COMMUNICATIONS |
| 2016 | Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis | CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY |
| 2016 | FAT1 mutations cause a glomerulotubular nephropathy
| NATURE COMMUNICATIONS |
| 2015 | Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins | Methods in Molecular Biology (Clifton, N.J.) |
| 2014 | Shank2 mutant mice display a hypersecretory response to cholera toxin | JOURNAL OF PHYSIOLOGY-LONDON |
| 2012 | Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins
| NATURE COMMUNICATIONS |
| 2012 | Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function | NATURE |
| 2011 | The cystic fibrosis transmembrane conductance regulator's expanding SNARE interactome | TRAFFIC |
| 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 |
| 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 |
| 2011 | A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children | JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY |
| 2010 | Syntaxin 16 binds to cystic fibrosis transmembrane conductance regulator and regulates its membrane trafficking in epithelial cells.
| JOURNAL OF BIOLOGICAL CHEMISTRY |
| 2010 | House dust mite extract activates apical Cl(-) channels through protease-activated receptor 2 in human airway epithelia | JOURNAL OF CELLULAR BIOCHEMISTRY |
| 2010 | 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 |
| 2009 | PDZ-based adaptor proteins in epithelial anion transport and VIP receptor regulation
| Journal of Medical Investigation |
| 2009 | Synaptic scaffolding molecule binds to and regulates vasoactive intestinal polypeptide type-1 receptor in epithelial cells. | GASTROENTEROLOGY |
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