Browsing by Keyword : Mutation

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Showing results 164 to 194 of 194

Pub YearTitleAuthor(s)
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
2024Unveiling local and global conformational changes and allosteric communications in SOD1 systems using molecular dynamics simulation and network analysesBasith, Shaherin, 이광
2015VE1 antibody is not highly specific for the BRAF V600E mutation in thyroid cytology categories with the exception of malignant cases.김대중, 김장희, 소의영, 신승수, 이기범, 이정훈, 임현이, 정선용, 정윤석, 한재호
1999Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.정조원, 한시훈, 홍창호
2011Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).김옥화
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