| 2023-12 |
Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss |
Journal of Korean Medical Science
|
| 2023-12 |
Prostaglandin F2α analogue, bimatoprost ameliorates colistin-induced nephrotoxicity |
Biomedicine & Pharmacotherapy
|
| 2023-11 |
Genetic Characteristics and Audiological Performance After Cochlear Implantation in Patients With Incomplete Partition Type III |
Clinical and Experimental Otorhinolaryngology
|
| 2023-11 |
Lactobacillus plantarum ameliorates NASH-related inflammation by upregulating l-arginine production |
Experimental and Molecular Medicine
|
| 2023-09 |
Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss |
Cells
|
| 2023-07 |
A TEAD2-driven endothelial-like program shapes basal-like differentiation and metastasis of pancreatic cancer |
Gastroenterology
|
| 2023-06 |
LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus |
Cell Communication and Signaling
|
| 2023-05 |
Preventive effect of empagliflozin and ezetimibe on hepatic steatosis in adults and murine models |
Biomedicine and Pharmacotherapy
|
| 2023-04 |
Overlooked KCNQ4 variants augment the risk of hearing loss |
Experimental & Molecular Medicine
|
| 2023-03 |
Reprogramming anchorage dependency by adherent-to-suspension transition promotes metastatic dissemination |
Molecular Cancer
|
| 2023-03 |
Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes |
FRONTIERS IN MEDICINE
|
| 2023-01 |
Deep learning outperforms kidney organoid experts |
Kidney Research and Clinical Practice
|
| 2023-01 |
Comprehensive Prediction Model, Including Genetic Testing, for the Outcomes of Cochlear Implantation
|
Ear and Hearing
|
| 2022-12 |
Temporal Transcriptome Analysis of SARS-CoV-2-Infected Lung and Spleen in Human ACE2-Transgenic Mice |
Molecules and Cells
|
| 2022-11 |
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin |
Autophagy
|
| 2022-09 |
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study |
HUMAN GENETICS
|
| 2022-04 |
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation |
HUMAN GENETICS
|
| 2022-04 |
Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains |
Biomedicines
|
| 2022-02 |
In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model |
THERANOSTICS
|
| 2022-01 |
Genome-wide association study identifies TNFSF15 associated with childhood asthma |
ALLERGY
|
| 2021-11 |
Insulin-activated store-operated Ca 2+ entry via Orai1 induces podocyte actin remodeling and causes proteinuria |
NATURE COMMUNICATIONS
|
| 2021-10 |
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis |
NEW ENGLAND JOURNAL OF MEDICINE
|
| 2021-10 |
LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea |
HEARING RESEARCH
|
| 2021-07 |
Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss |
EXPERIMENTAL AND MOLECULAR MEDICINE
|
| 2021-05 |
Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant |
HEARING RESEARCH
|
| 2021-03 |
Microbiome analysis reveals that Ralstonia is responsible for decreased renal function in patients with ulcerative colitis |
Clinical and translational medicine
|
| 2021-03 |
Activation of kcnq4 as a therapeutic strategy to treat hearing loss |
International Journal of Molecular Sciences
|
| 2021-03 |
Dynamic Chronological Changes in Serum Triglycerides Are Associated With the Time Point for Non-alcoholic Fatty Liver Disease Development in the Nationwide Korean Population Cohort |
Frontiers in medicine
|
| 2020-12 |
The incidence rates and risk factors of Parkinson disease in patients with psoriasis: A nationwide population-based cohort study |
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
|
| 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 |
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome: A Systematic Review |
AUTOIMMUNITY REVIEWS
|
| 2020-05 |
SGLT2 inhibition modulates NLRP3 inflammasome activity via ketones and insulin in diabetes with cardiovascular disease |
NATURE COMMUNICATIONS
|
| 2020-04 |
PLCE1 regulates the migration, proliferation, and differentiation of podocytes |
EXPERIMENTAL AND MOLECULAR MEDICINE
|
| 2020-03 |
Genomic landscape and mutational spectrum of ADAMTS family genes in mendelian disorders based on gene evidence review for variant interpretation |
Biomolecules
|
| 2020-03 |
Grasp55−/− mice display impaired fat absorption and resistance to high-fat diet-induced obesity |
NATURE COMMUNICATIONS
|
| 2020-01 |
Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation |
EAR AND HEARING
|
| 2019-12 |
Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis |
NATURE COMMUNICATIONS
|
| 2019-10 |
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes |
SCIENTIFIC REPORTS
|
| 2019-10 |
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome |
KIDNEY INTERNATIONAL
|
| 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 |
The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report |
BMC MEDICAL GENETICS
|
| 2019-03 |
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis |
HUMAN GENETICS
|
| 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
|
| 2019-01 |
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy |
AMERICAN JOURNAL OF HUMAN GENETICS
|
| 2019-01 |
A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction |
EUROPEAN JOURNAL OF MEDICAL GENETICS
|
| 2018-11 |
Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review |
BIOMED RESEARCH INTERNATIONAL
|
| 2018-11 |
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss |
SCIENTIFIC REPORTS
|
| 2018-11 |
Unconventional secretion of transmembrane proteins |
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
|
| 2018-10 |
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome |
JOURNAL OF CLINICAL INVESTIGATION
|
| 2018-08 |
Recent advances of animal model of focal segmental glomerulosclerosis |
CLINICAL AND EXPERIMENTAL NEPHROLOGY
|
| 2018-07 |
Specific autophagy and ESCRT components participate in the unconventional secretion of CFTR |
AUTOPHAGY
|
| 2018-07 |
Expression of YAP and TAZ in molluscum contagiosum virus infected skin |
BRITISH JOURNAL OF DERMATOLOGY
|
| 2018-06 |
Unconventional protein secretion – new insights into the pathogenesis and therapeutic targets of human diseases |
JOURNAL OF CELL SCIENCE
|
| 2018-06 |
Novel association between CDKAL1 and cholesterol efflux capacity: replication after GWAS-based discovery |
ATHEROSCLEROSIS
|
| 2018-05 |
A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes |
CELL REPORTS
|
| 2018-05 |
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment |
NATURE COMMUNICATIONS
|
| 2018-03 |
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms |
PLOS GENETICS
|
| 2018-03 |
A novel HIF1AN substrate KANK3 plays a tumor-suppressive role in hepatocellular carcinoma |
CELL BIOLOGY INTERNATIONAL
|
| 2018-02 |
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center |
PEDIATRIC NEPHROLOGY
|
| 2018-01 |
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome |
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
|
| 2018-01 |
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis |
KIDNEY INTERNATIONAL
|
| 2017-12 |
ANO9/TMEM16J promotes tumourigenesis via EGFR and is a novel therapeutic target for pancreatic cancer |
BRITISH JOURNAL OF CANCER
|
| 2017-12 |
Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: A case report |
BMC MEDICAL GENETICS
|
| 2017-12 |
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome |
JAMA OPHTHALMOLOGY
|
| 2017-12 |
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy |
SCIENTIFIC REPORTS
|
| 2017-12 |
Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea(2006-2013) |
SCIENTIFIC REPORTS
|
| 2017-10 |
Advillin acts upstream of phospholipase C is an element of 1 in steroid-resistant nephrotic syndrome |
JOURNAL OF CLINICAL INVESTIGATION
|
| 2017-10 |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly |
NATURE GENETICS
|
| 2017-10 |
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
|
| 2017-09 |
A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults |
CLINICAL GENETICS
|
| 2017-07 |
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease |
NATURE GENETICS
|
| 2017-06 |
Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract |
Investigative and Clinical Urology
|
| 2017-04 |
Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population |
SCIENTIFIC REPORTS
|
| 2017-03 |
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency |
JOURNAL OF CLINICAL INVESTIGATION
|
| 2017-02 |
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis |
AMERICAN JOURNAL OF HUMAN GENETICS
|
| 2016-06 |
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3 |
SCIENTIFIC REPORTS
|
| 2016-06 |
Mutations in SLC26A1 Cause Nephrolithiasis |
AMERICAN JOURNAL OF HUMAN GENETICS
|
| 2016-04 |
The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion |
NATURE COMMUNICATIONS
|
| 2016-04 |
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome |
NATURE GENETICS
|
| 2016-04 |
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis |
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
|
| 2016-04 |
Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1. |
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
|
| 2016-03 |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies |
JOURNAL OF MEDICAL GENETICS
|
| 2016-02 |
FAT1 mutations cause a glomerulotubular nephropathy |
NATURE COMMUNICATIONS
|
| 2016-02 |
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity |
KIDNEY INTERNATIONAL
|
| 2015-10 |
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype |
JOURNAL OF MEDICAL GENETICS
|
| 2015-08 |
Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins. |
Methods in molecular biology (Clifton, N.J.)
|
| 2015-08 |
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract |
HUMAN GENETICS
|
| 2015-06 |
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome |
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
|
| 2015-06 |
KANK deficiency leads to pod ocyte dysfunction and nephrotic syndrome |
JOURNAL OF CLINICAL INVESTIGATION
|
| 2015-01 |
DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling |
AMERICAN JOURNAL OF HUMAN GENETICS
|