Browsing by Keyword : Mutation

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Showing results 1 to 60 of 98

Publication YearTitleAJOU
Author
2008A case of Birt-Hogg-Dubé syndrome.정선용김현주김유찬
2007A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene김혜진정윤석이관우정선용김현주김대중
2011A Case of X-Lined Agammaglobulinemia Presenting Recurrent Respiratory Infections예영민박해심
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱손영배정선용
2016A multicenter phase II study of sorafenib in combination with erlotinib in patients with advanced non-small cell lung cancer (KCSG-0806)강석윤최진혁
2007A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.이상윤
2019Abrogation of B-Raf(V600E) induced senescence by FoxM1 expression최용원김장희강석윤박태준
2007Achondroplasia and enchondromatosis: report of three boys.김옥화
2003Anti-DNA antibodies: aspects of structure and pathogenicity.장영주
2004B-cell translocation gene 2 (Btg2) regulates vertebral patterning by modulating bone morphogenetic protein/smad signaling.임인경
2004Bcl-x(L) sequesters its C-terminal membrane anchor in soluble, cytosolic homodimers.윤수한
2013Bile acid signal-induced phosphorylation of small heterodimer partner by protein kinase Cζ is critical for epigenomic regulation of liver metabolic genes.최성이
2004Casein kinase II-mediated phosphorylation regulates alpha-synuclein/synphilin-1 interaction and inclusion body formation.이광
2003Cdk2-dependent phosphorylation of the NF-Y transcription factor and its involvement in the p53-p21 signaling pathway.최경숙
2010Cell cycle-regulated expression and subcellular localization of a kinesin-8 member human KIF18B.김완기
2012Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients김구상
2013Characterization of mutations in multi- and extensive drug resistance among strains of Mycobacterium tuberculosis clinical isolates in Republic of Korea.황성철
2005Characterization of thiol-specific antioxidant 1 (TSA1) of Candida albicans.김완기
2011Clinical and genetic characteristics of Korean patients with Gaucher disease.정선용김현주
2017Clinicopathologic Characteristics and Mutational Status of Succinate Dehydrogenase Genes in Paraganglioma of the Urinary Bladder: A Multi-Institutional Korean Study권지은
2011Comparison of multiplex restriction fragment mass polymorphism and sequencing analyses for detecting entecavir resistance in chronic hepatitis B.조성원
2015Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial nucleoid.박찬배
2018Differences in prognosis and efficacy of chemotherapy by p53 expression in triple-negative breast cancer정용식
2018Diffusion-Weighted Imaging of Brain Metastasis from Lung Cancer: Correlation of MRI Parameters with the Histologic Type and Gene Mutation Status정우상
2017Discovery of actionable targets in liver cancer by mutation profile analysis최지혜
2018DJ-1 deficiency impairs synaptic vesicle endocytosis and reavailability at nerve terminals하태영최동주주일로조은혜박상면
2017Does the efficacy of epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor differ according to the type of EGFR mutation in non-small cell lung cancer?최용원최진혁
2019Drp1-Zip1 Interaction Regulates Mitochondrial Quality Surveillance System강호철
2018Dysregulated phosphorylation of Rab GTPases by LRRK2 induces neurodegeneration강호철
2014Efficacy and safety of radotinib in chronic phase chronic myeloid leukemia patients with resistance or intolerance to BCR-ABL1 tyrosine kinase inhibitors.박준성정성현
2006ERK1/2 is an endogenous negative regulator of the gamma-secretase activity.백은주정민환
2009Erlotinib monotherapy for stage IIIB/IV non-small cell lung cancer: a multicenter trial by the Korean Cancer Study Group.최진혁
2008Fragile X syndrome in Korea: a case series and a review of the literature.임신영김현주
2011Genetic basis of congenital and infantile nephrotic syndromes.배기수
2013Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests.손영배
2017Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases박해심
2001Hepatitis B virus X protein induced expression of the Nur77 gene.조혜성
1999Histochemically reactive zinc in plaques of the Swedish mutant beta-amyloid precursor protein transgenic mice.묵인희
2002Hrp3, a chromodomain helicase/ATPase DNA binding protein, is required for heterochromatin silencing in fission yeast.이명애
2013Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.김옥화
2019Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes장정훈정연훈
2018Identification of genomic aberrations associated with lymph node metastasis in diffuse-type gastric cancer최지혜김영배한상욱우현구이다근
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배정선용
2011Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.김옥화
2018Identifying candidates for gamma knife radiosurgery among elderly patients with brain metastases노태훈유남규정동환김세혁
2004IKKgamma inhibits activation of NF-kappaB by NIK.이광
2014Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).손영배
2018Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias장재락
2002Inactivation of human peroxiredoxin I during catalysis as the result of the oxidation of the catalytic site cysteine to cysteine-sulfinic acid.황성철
2019Indoor radon exposure increases tumor mutation burden in never-smoker patients with lung adenocarcinoma신승수
2007Inducing rigid local structure around the zinc-binding region by hydrophobic interactions enhances the homotrimerization and apoptotic activity of zinc-free TRAIL.권명희
1997Interaction of human T-cell lymphotropic virus type I Tax, Ets1, and Sp1 in transactivation of the PTHrP P2 promoter.최경숙
2019Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma이현우
2015LRRK2 G2019S mutation attenuates microglial motility by inhibiting focal adhesion kinase.주일로박상면강호철조은혜
2019Makorin 1 is required for Drosophila oogenesis by regulating insulin/Tor signaling김은영
2018Makorin 1 Regulates Developmental Timing in Drosophila이해상정선용황진순김은영
2001Methylation of O(6)-methylguanine-DNA methyltransferase gene is associated significantly with K-ras mutation, lymph node invasion, tumor staging, and disease free survival in patients with gastric carcinoma.한상욱조용관백운기김영배임인경
2016MicroRNA Expression Signatures Associated With BRAF-Mutated Versus KRAS-Mutated Colorectal Cancers최용원이현우김영배서광욱이다근
2016Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication정성현한재호조성란
2016Mitochondrial E3 Ubiquitin Protein Ligase 1 Mediates Cigarette Smoke-Induced Endothelial Cell Death and Dysfunction김선용
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