Browsing by Keyword : Mutation

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Showing results 131 to 190 of 194

Pub YearTitleAuthor(s)
2006Neuronal nitric oxide synthase (nNOS) modulates the JNK1 activity through redox mechanism: a cGMP independent pathway.곽병주
2014Non-thermal atmospheric pressure plasma induces apoptosis in oral cavity squamous cell carcinoma: Involvement of DNA-damage-triggering sub-G(1) arrest via the ATM/p53 pathway.강성운, 김철호, 신유섭
2020Normal presynaptic dopaminergic neurons in corticobasal syndrome with MAPT gene mutation박동규, 안영실, 윤정한
2000Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.한시훈
2004Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.김현주
2010Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.김옥화
2010Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.고정민
2020Osimertinib for Patients With Non-Small-Cell Lung Cancer Harboring Uncommon EGFR Mutations: A Multicenter, Open-Label, Phase II Trial (KCSG-LU15-09)안미선
2013Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.김옥화
2015Ovarian microcystic stromal tumor: A novel extracolonic tumor in familial adenomatous polyposis.고영화
2014Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.김옥화
2016Pacemaker-neuron-dependent disturbance of the molecular clockwork by a Drosophila CLOCK mutant homologous to the mouse Clock mutation김은영, 조은주
2017Pan-cancer analysis of systematic batch effects on somatic sequence variations우현구
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2019Parkinson's disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes김현미, 박상면, 이지훈, 조은혜, 주일로
2020PCAF-Mediated Histone Acetylation Promotes Replication Fork Degradation by MRE11 and EXO1 in BRCA-Deficient Cells우현구, 최지혜
2015Phase II Trial of Nilotinib in Patients With Metastatic Malignant Melanoma Harboring KIT Gene Aberration: A Multicenter Trial of Korean Cancer Study Group (UN10-06).안미선
2014Phosphoacceptors threonine 162 and serines 170 and 178 within the carboxyl-terminal RRRS/T motif of the hepatitis B virus core protein make multiple contributions to hepatitis B virus replication.김경민, 박선, 신호준, 정재성, 최용준
2014Phosphorylation of a central clock transcription factor is required for thermal but not photic entrainment.김은영
2005Phosphorylation of serine 147 of tis21/BTG2/pc3 by p-Erk1/2 induces Pin-1 binding in cytoplasm and cell death.유민숙, 임인경
2016Position statements on genetic test for peritoneal, ovarian, and fallopian tubal cancers: Korean Society of Gynecologic Oncology (KSGO)장석준
2021Presence of TERT ± BRAF V600E mutation is not a risk factor for the clinical management of patients with papillary thyroid microcarcinoma김형규, 노진, 이정훈, 하은주
1999Presenilin 1 mediates protein kinase C dependent alpha-secretase derived amyloid precursor protein secretion and mitogen-activated protein kinase activation in presenilin 1 transfected human embryonic kidney 293 cell.묵인희
2012Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study김구상, 정용식
2011Prevalence of plasmid-mediated quinolone resistance and mutations in the gyrase and topoisomerase IV genes in Salmonella isolated from 12 tertiary-care hospitals in Korea.이위교
2014Profiling of exome mutations associated with progression of HBV-related hepatocellular carcinoma.김순선, 안선주, 우현구, 정재연, 조성원, 조효정
2019Proteogenomic Characterization of Human Early-Onset Gastric Cancer한상욱
2018Recapitulation of pharmacogenomic data reveals that invalidation of SULF2 enhance sorafenib susceptibility in liver cancer김혁훈, 왕희정, 우현구, 윤사라
2004Regulation of Semliki Forest virus RNA replication: a model for the control of alphavirus pathogenesis in invertebrate hosts.김경민
2015Relation Between F-18 FDG Uptake of PET/CT and BRAFV600E Mutation in Papillary Thyroid Cancer.김장희, 소의영, 안영실, 윤준기, 이수진, 정윤석
2016Resistance Mechanisms and Clinical Features of Fluconazole-Nonsusceptible Candida tropicalis Isolates Compared with Fluconazole-Less-Susceptible Isolates이위교
2000Reversion from precore/core promoter mutants to wild-type hepatitis B virus during the course of lamivudine therapy.김진홍, 조성원, 함기백
2018Roles of TNS3 gene in tumor progression of Neurofibromatosis Type 1안수용
2016Self-clearance mechanism of mitochondrial E3 ligase MARCH5 contributes to mitochondria quality control유영석, 조혜성
2021Small heterodimer partner (SHP) aggravates ER stress in Parkinson’s disease-linked LRRK2 mutant astrocyte by regulating XBP1 SUMOylation이지훈, 조은혜, 주일로
2010Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.김옥화
2005Spontaneous fractures in the mouse mutant sfx are caused by deletion of the gulonolactone oxidase gene, causing vitamin C deficiency.정윤석
2015Strong immunoexpression of midkine is associated with multiple lymph node metastases in BRAFV600E papillary thyroid carcinoma.김장희, 박태준, 소의영, 이정훈, 최용원
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
2018Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11박규정, 손영배, 이해상, 황진순
2020Survival, Prognostic Factors, and Volumetric Analysis of Extent of Resection for Anaplastic Gliomas노태훈
2021TERT promoter mutations in penile squamous cell carcinoma: high frequency in non-HPV-related type and association with favorable clinicopathologic features권지은, 김선일, 김세중, 김장희, 박범희, 추설호, 한재호
2018The 2016 WHO versus 2008 WHO Criteria for the Diagnosis of Chronic Myelomonocytic Leukemia박준성, 조성란, 한재호
1998The cDNA cloning and ontogeny of mouse alpha-synuclein.곽병주, 조은혜
2007The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals.이상윤
2022The efficacy of EGFR-tyrosine kinase inhibitor in non-small cell lung cancer patients with synchronous brain metastasis: a real-world study강석윤, 김세혁, 노오규, 노태훈, 신승수, 안미선, 오영택, 이현우, 최용원, 최진혁
2012The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia박준은
2020The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects손영배
2019The impact of primary tumor location in patients with metastatic colorectal cancer: a Korean Cancer Study Group CO12-04 study강석윤
2023The in-silico evaluation of important GLUT9 residue for uric acid transport based on renal hypouricemia type 2조성권
2013The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.김구상, 정용식
2003The putative transcriptional activator MSN1 promotes chromium accumulation in Saccharomyces cerevisiae.김경민
2004Three novel cis-acting elements required for efficient plus-strand DNA synthesis of the hepatitis B virus genome.윤계순
2005Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.김대중, 이관우
2023Three-Year Safety, Tolerability, and Health-Related Quality of Life Outcomes of Adjuvant Osimertinib in Patients With Resected Stage IB to IIIA EGFR-Mutated NSCLC: Updated Analysis From the Phase 3 ADAURA Trial최진혁
2015Timely Degradation of Wip1 Phosphatase by APC/C Activator Protein Cdh1 is Necessary for Normal Mitotic Progression.조혜성
2015Tolerance to acetic acid is improved by mutations of the TATA-binding protein gene.김완기
2003Transmodulation between phospholipase D and c-Src enhances cell proliferation.최경숙
2010TRPV4-pathy, a novel channelopathy affecting diverse systems.김옥화
2013TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.박찬배
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