Browsing by Keyword : Mutation

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Showing results 1 to 60 of 134

Pub YearTitleAuthor(s)
1997A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.한시훈
2009A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.고정민
2008A case of Birt-Hogg-Dubé syndrome.김유찬, 김현주, 정선용
2007A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석
2011A Case of X-Lined Agammaglobulinemia Presenting Recurrent Respiratory Infections박해심, 예영민
2006A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.김대중, 김세중, 이관우, 정윤석
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱, 손영배, 정선용
2016A multicenter phase II study of sorafenib in combination with erlotinib in patients with advanced non-small cell lung cancer (KCSG-0806)강석윤, 최진혁
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 expression강석윤, 김장희, 박태준, 최용원
2007Achondroplasia and enchondromatosis: report of three boys.김옥화
2008Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.용석우
2003Anti-DNA antibodies: aspects of structure and pathogenicity.장영주
2011Association of TP53 mutations with stem cell-like gene expression and survival of patients with hepatocellular carcinoma우현구
2015Atypical hemolytic uremic syndrome: Korean pediatric series.박세진
2010Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.김옥화
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.김현주, 정선용
2013Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.손영배, 정선용, 진현석
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
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
1997Correlation between K-ras gene mutation and prognosis of patients with nonsmall cell lung carcinoma.이이형
2015Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial nucleoid.박찬배
2013Dietary intake and breast cancer among carriers and noncarriers of BRCA mutations in the Korean Hereditary Breast Cancer Study.정용식
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 terminals박상면, 조은혜, 주일로, 최동주, 하태영
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?최용원, 최진혁
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.박준성, 정성현
2018EGFR Exon 19 Deletion is Associated With Favorable Overall Survival After First-line Gefitinib Therapy in Advanced Non-Small Cell Lung Cancer Patients강석윤, 고영화, 박준성, 신승수, 이현우, 정성현, 최용원, 최진혁, 한재호
2009Emergence of adefovir-resistant mutants after reversion to YMDD wild-type in lamivudine-resistant patients receiving adefovir monotherapy.정재연, 조성원
2006ERK1/2 is an endogenous negative regulator of the gamma-secretase activity.백은주, 정민환
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.김현주, 임신영
2019Functional Genomic Complexity Defines Intratumor Heterogeneity and Tumor Aggressiveness in Liver Cancer권소미, 우현구
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
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김유찬, 김현주, 정선용, 정연훈
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 Genotypes장정훈, 정연훈
2018Identification of genomic aberrations associated with lymph node metastasis in diffuse-type gastric cancer김영배, 우현구, 이다근, 최지혜, 한상욱
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배, 정선용
2011Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.김옥화
1998Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.조성원, 한시훈
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