Browsing by Yonsei Author : Gee, Heon Yung

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

Results 1-50 of 73.

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Issue DateTitleYonsei Author(s)Type
2019A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction정진세, 지헌영, 최재영article
2019A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators신동훈, 이민구, 정진세, 지헌영, 최재영article
2018Unconventional secretion of transmembrane proteins이민구, 지헌영article
2018Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR강정민, 김연정, 노신혜, 박학, 이민구, 지헌영article
2018Expression of YAP and TAZ in molluscum contagiosum virus infected skin지헌영article
2018Recent advances of animal model of focal segmental glomerulosclerosis신재일, 지헌영article
2018A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes 지헌영article
2018Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment 지헌영article
2018ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms 김혜연, 노신혜, 이민구, 지헌영, 한수민article
2018Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center지헌영article
2018Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery강석민, 박성하, 이상학, 지헌영article
2018Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome지헌영article
2018Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis지헌영article
2018Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review 김지홍, 신재일, 이금화, 지헌영article
2018Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome 지헌영article
2018Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss 김성헌, 정진세, 지헌영, 최재영article
2018Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseases이민구, 지헌영article
2018A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma지헌영article
2017Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis지헌영article
2017Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013) 김정호, 임정훈, 지헌영article
2017Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency 지헌영article
2017Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy 김응권, 이민구, 이승규, 이지환, 전익현, 지헌영, 최승일article
2017Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease 지헌영article
2017Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract 신재일, 이금화, 지헌영article
2017Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly 지헌영article
2017Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population 윤주헌, 정진세, 지헌영, 최재영article
2017Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome박혜원, 이승태, 임정훈, 지헌영, 최종락, 한승한, 한진우article
2017ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer박학, 박형순, 이민구, 전익현, 정진세, 정희철, 지헌영article
2017Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report 정진세, 지헌영, 최재영article
2017Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature지헌영article
2017Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome 지헌영article
2017A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults지헌영article
2016Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.지헌영article
2016The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion. 김지윤, 노신혜, 이민구, 전익현, 정진세, 지헌영, 최재영article
2016Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies 지헌영article
2016FAT1 mutations cause a glomerulotubular nephropathy 지헌영article
2016Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. 노신혜, 지헌영article
2016Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 지헌영article
2016Mutations in SLC26A1 Cause Nephrolithiasis.이민구, 전익현, 지헌영article
2016Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 지헌영article
2016Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis지헌영article
2015Defects of CRB2 cause steroid-resistant nephrotic syndrome 지헌영article
2015Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins김주영, 이민구, 지헌영article
2015DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling 지헌영article
2015KANK deficiency leads to podocyte dysfunction and nephrotic syndrome 지헌영article
2015A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome지헌영article
2015Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract 지헌영article
2015IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype 지헌영article
2014Shank2 mutant mice display a hypersecretory response to cholera toxin노신혜, 박준희, 이민구, 이정수, 정은석, 정진세, 지헌영article
2014Mutations of CEP83 cause infantile nephronophthisis and intellectual disability 지헌영article
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