2024-06 |
Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behçet's disease and HLA-B*46:01 for its intestinal involvement |
Digestive and Liver Disease
|
2024-03 |
Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity |
Experimental & Molecular Medicine
|
2023-11 |
Novel small molecule-mediated restoration of the surface expression and anion exchange activity of mutated pendrin causing Pendred syndrome and DFNB4 |
Biomedicine & Pharmacotherapy
|
2023-06 |
LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus |
Cell Communication and Signaling
|
2022-09 |
Multicenter Surveillance of Cystic Fibrosis in Korean Children
|
Allergy, Asthma & Immunology Research
|
2022-07 |
Amelioration of SARS-CoV-2 infection by ANO6 phospholipid scramblase inhibition |
CELL REPORTS
|
2022-06 |
TMED3 Complex Mediates ER Stress-Associated Secretion of CFTR, Pendrin, and SARS-CoV-2 Spike |
Advanced Science
|
2022-06 |
Autophagy-Related Pathways in Vesicular Unconventional Protein Secretion |
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
|
2022-04 |
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation |
HUMAN GENETICS
|
2021-10 |
Unraveling the Genomic Architecture of the CYP3A Locus and ADME Genes for Personalized Tacrolimus Dosing |
TRANSPLANTATION
|
2021-10 |
Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and PD-1/PD-L1 Blockade Responses |
HEPATOLOGY
|
2021-10 |
Secretory autophagy machinery and vesicular trafficking are involved in HMGB1 secretion |
AUTOPHAGY
|
2021-04 |
A pilot study to investigate the utility of NAT2 genotype-guided isoniazid monotherapy regimens in NAT2 slow acetylators |
PHARMACOGENETICS AND GENOMICS
|
2021-04 |
Plasma Membrane Localized GCaMP-MS4A12 by Orai1 Co-Expression Shows Thapsigargin- and Ca2+-Dependent Fluorescence Increases |
MOLECULES AND CELLS
|
2020-12 |
Isoproterenol-induced hypertrophy of neonatal cardiac myocytes and H9c2 cell is dependent on TRPC3-regulated CaV1.2 expression |
CELL CALCIUM
|
2020-08 |
Bicarbonate permeation through anion channels: its role in health and disease |
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
|
2020-08 |
Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing |
NEUROSURGERY
|
2020-07 |
Distinct Mechanisms of Over-Representation of Landmarks and Rewards in the Hippocampus |
CELL REPORTS
|
2020-06 |
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment |
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
|
2020-06 |
DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model |
Molecular therapy Methods & clinical development.
|
2020-03 |
Grasp55−/− mice display impaired fat absorption and resistance to high-fat diet-induced obesity |
NATURE COMMUNICATIONS
|
2020-03 |
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome. |
NATURE COMMUNICATIONS
|
2020-02 |
IRE1α kinase–mediated unconventional protein secretion rescues misfolded CFTR and pendrin |
SCIENCE ADVANCES
|
2020-01 |
Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related Disorders |
CMGH Cellular and Molecular Gastroenterology and Hepatology
|
2019-08 |
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment |
EXPERIMENTAL AND MOLECULAR MEDICINE
|
2019-04 |
Temperature-dependent increase in the calcium sensitivity and acceleration of activation of ANO6 chloride channel variants |
SCIENTIFIC REPORTS
|
2019-03 |
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency |
SCIENTIFIC REPORTS
|
2019-03 |
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators |
HUMAN MUTATION
|
2018-11 |
Unconventional secretion of transmembrane proteins |
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
|
2018-10 |
Overexpression of WNK1 in POMC-expressing neurons reduces weigh gain via WNK4-mediated degradation of Kir6.2 |
MOLECULAR AND CELLULAR BIOCHEMISTRY
|
2018-07 |
Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR |
AUTOPHAGY
|
2018-06 |
NPP1 is responsible for potent extracellular ATP hydrolysis as NTPDase1 in primary cultured murine microglia |
PURINERGIC SIGNALLING
|
2018-06 |
Unconventional protein secretion – new insights into the pathogenesis and therapeutic targets of human diseases |
JOURNAL OF CELL SCIENCE
|
2018-04 |
Neopepsee: accurate genome-level prediction of neoantigens by harnessing sequence and amino acid immunogenicity information |
ANNALS OF ONCOLOGY
|
2018-04 |
Survival of Cancer Stem-Like Cells Under Metabolic Stress via CaMK2α-mediated Upregulation of Sarco/Endoplasmic Reticulum Calcium ATPase Expression. |
CLINICAL CANCER RESEARCH
|
2018-03 |
Targeting mutant KRAS with CRISPR-Cas9 controls tumor growth |
GENOME RESEARCH
|
2018-03 |
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms |
PLOS GENETICS
|
2017-12 |
ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer |
BRITISH JOURNAL OF CANCER
|
2017-12 |
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy |
SCIENTIFIC REPORTS
|
2017-11 |
A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD. |
GUT
|
2017-08 |
Chronological Change of Right Ventricle by Chronic Intermittent Hypoxia in Mice |
SLEEP
|
2017-05 |
Hippocampus-dependent goal localization by head-fixed mice in virtual reality |
eNeuro
|
2017-03 |
Targeted Next-Generation Sequencing for Comprehensive Genetic Profiling of Pharmacogenes |
CLINICAL PHARMACOLOGY & THERAPEUTICS
|
2017-02 |
Comparison of clinical outcomes between wavefront-optimized versus corneal wavefront-guided transepithelial photorefractive keratectomy for myopic astigmatism |
JOURNAL OF CATARACT AND REFRACTIVE SURGERY
|
2017-02 |
UDP-Induced Phagocytosis and ATP-Stimulated Chemotactic Migration Are Impaired in STIM1(-/-) Microglia In Vitro and In Vivo |
MEDIATORS OF INFLAMMATION
|
2017-02 |
Sustained Mutant KIT Activation in the Golgi Complex Is Mediated by PKC-θ in Gastrointestinal Stromal Tumors |
CLINICAL CANCER RESEARCH
|
2017-01 |
Enhancing inhibitory synaptic function reverses spatial memory deficits in Shank2 mutant mice |
NEUROPHARMACOLOGY
|
2017-01 |
Sec16A is critical for both conventional and unconventional secretion of CFTR |
SCIENTIFIC REPORTS
|
2016-12 |
Generation of Delta F508-CFTR T84 cell lines by CRISPR/Cas9-mediated genome editing |
BIOTECHNOLOGY LETTERS
|
2016-11 |
Knockdown of RPL9 expression inhibits colorectal carcinoma growth via the inactivation of Id-1/NF-kappa B signaling axis |
INTERNATIONAL JOURNAL OF ONCOLOGY
|
2016-10 |
Resistance to pathologic cardiac hypertrophy and reduced expression of CaV1.2 in Trpc3-depleted mice |
MOLECULAR AND CELLULAR BIOCHEMISTRY
|
2016-10 |
Prognostic Scoring Index for Patients with Metastatic Pancreatic Adenocarcinoma. |
CANCER RESEARCH AND TREATMENT
|
2016-09 |
Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice |
NATURE COMMUNICATIONS
|
2016-07 |
Monomerization and ER Relocalization of GRASP Is a Requisite for Unconventional Secretion of CFTR |
TRAFFIC
|
2016-06 |
SESN2/sestrin2 suppresses sepsis by inducing mitophagy and inhibiting NLRP3 activation in macrophages. |
AUTOPHAGY
|
2016-06 |
Pore dilatation increases the bicarbonate permeability of CFTR, ANO1 and glycine receptor anion channels |
JOURNAL OF PHYSIOLOGY-LONDON
|
2016-06 |
Mutations in SLC26A1 Cause Nephrolithiasis |
AMERICAN JOURNAL OF HUMAN GENETICS
|
2016-04 |
Pilot Study of a Next-Generation Sequencing-Based Targeted Anticancer Therapy in Refractory Solid Tumors at a Korean Institution |
PLOS ONE
|
2016-04 |
HLA-C*01 is a Risk Factor for Crohn's Disease. |
INFLAMMATORY BOWEL DISEASES
|
2016-04 |
The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion |
NATURE COMMUNICATIONS
|
2016-03 |
Benefit of Adjuvant Chemotherapy After Curative Resection of Lung Metastasis in Colorectal Cancer |
ANNALS OF SURGICAL ONCOLOGY
|
2016-03 |
Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus |
ONCOTARGET
|
2016-03 |
Pharmacogenetic analysis of advanced non-small-cell lung cancer patients treated with first-line paclitaxel and carboplatin chemotherapy |
PHARMACOGENETICS AND GENOMICS
|
2016-01 |
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations |
YONSEI MEDICAL JOURNAL
|
2015-12 |
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion |
HUMAN MUTATION
|
2015-11 |
Selective serotonin reuptake inhibitors facilitate ANO6 (TMEM16F) current activation and phosphatidylserine exposure |
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
|
2015-11 |
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy |
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
|
2015-11 |
The full repertoire of Drosophila gustatory receptors for detecting an aversive compound |
NATURE COMMUNICATIONS
|
2015-10 |
Benzopyrimido-pyrrolo-oxazine-dione (R)-BPO-27 Inhibits CFTR Chloride Channel Gating by Competition with ATP |
MOLECULAR PHARMACOLOGY
|
2015-08 |
Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins. |
Methods in molecular biology (Clifton, N.J.)
|
2015-06 |
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene |
EXPERIMENTAL AND MOLECULAR MEDICINE (Korean journal of biochemistry)
|
2015-06 |
Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis |
PLOS ONE
|
2015-06 |
GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy |
EPILEPSY RESEARCH
|
2015-06 |
Proprotein Convertase 5/6A Is Associated with Bone Morphogenetic Protein-2-Induced Squamous Cell Differentiation |
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
|
2015-06 |
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy |
NEUROMUSCULAR DISORDERS
|
2015-05 |
Genetic testing of korean familial hypercholesterolemia using whole-exome sequencing |
PLOS ONE
|
2015-03 |
microDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes |
NUCLEIC ACIDS RESEARCH
|
2015-02 |
Phase II Clinical and Exploratory Biomarker Study of Dacomitinib in Patients with Recurrent and/or Metastatic Squamous Cell Carcinoma of Head and Neck |
CLINICAL CANCER RESEARCH
|
2015-01 |
Regulation of phagocytosis and cytokine secretion by store-operated calcium entry in primary isolated murine microglia |
CELLULAR SIGNALLING
|
2014-12 |
Does calmodulin regulate the bicarbonate permeability of ANO1/TMEM16A or not? |
JOURNAL OF GENERAL PHYSIOLOGY
|
2014-07 |
Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis |
PLOS GENETICS
|
2014-06 |
Role of calcium signaling in epithelial bicarbonate secretion |
CELL CALCIUM
|
2014-04 |
Shank2 mutant mice display a hypersecretory response to cholera toxin |
JOURNAL OF PHYSIOLOGY-LONDON
|
2014-04 |
Na+/H+ Exchanger Regulatory Factor 3 Is Critical for Multidrug Resistance Protein 4-Mediated Drug Efflux in the Kidney |
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
|
2014-02 |
Identification of somatic mutations in EGFR/KRAS/ALK-negative lung adenocarcinoma in never-smokers |
GENOME MEDICINE
|
2014-01 |
A newly discovered LGI1 mutation in Korean family with autosomal dominant lateral temporal lobe epilepsy |
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
|
2013-12 |
Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients |
Genomics & Informatics
|
2013-12 |
Combined effects of an antioxidant and caspase inhibitor on the reversal of hepatic fibrosis in rats |
APOPTOSIS
|
2013-08 |
WNK4 inhibits plasma membrane targeting of NCC through regulation of syntaxin13 SNARE formation. |
CELLULAR SIGNALLING
|
2013-06 |
Association of genetic variation in chitotriosidase is associated with atopy in Korean children |
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY
|
2013-05 |
Proximal Dominant Hereditary Motor and Sensory Neuropathy With Proximal Dominance Association With Mutation in the TRK-Fused Gene |
JAMA NEUROLOGY
|