Browsing by Keyword : Mutation

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Showing results 26 to 85 of 194

Pub YearTitleAuthor(s)
2009Calpain-mediated N-cadherin proteolytic processing in brain injury.문창현, 백은주, 이수환, 정이숙
2004Casein kinase II-mediated phosphorylation regulates alpha-synuclein/synphilin-1 interaction and inclusion body formation.이광
2021Caveolin-1 deficiency impairs synaptic transmission in hippocampal neurons박상면
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 human anti-heat shock protein 60 monoclonal autoantibody Fab fragments in atherosclerosis: genetic and functional analysis.장영주
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
2017Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis손영배
2012Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency김옥화, 손영배
2017Clinicopathologic Characteristics and Mutational Status of Succinate Dehydrogenase Genes in Paraganglioma of the Urinary Bladder: A Multi-Institutional Korean Study권지은
2023Comparison of histological and molecular features of pediatric-type follicular lymphoma and pediatric nodal marginal zone lymphoma한재호
2011Comparison of multiplex restriction fragment mass polymorphism and sequencing analyses for detecting entecavir resistance in chronic hepatitis B.조성원
1995Contribution of B cell subsets to delayed development of MAIDS in xid mice.김완기
1997Correlation between K-ras gene mutation and prognosis of patients with nonsmall cell lung carcinoma.이이형
2000Correlation between structure of Bcl-2 and its inhibitory function of JNK and caspase activity in dopaminergic neuronal apoptosis.진병관
2019CRISPR-Cas9-mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis이기황
2015Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial nucleoid.박찬배
2023Deep brain stimulation in Parkinson disease with valosin-containing protein gene mutation박동규, 윤정한
2024Deep learning–radiomics integrated noninvasive detection of epidermal growth factor receptor mutations in non-small cell lung cancer patients김철호, 노진, 유슬기, 허재성
2010Definition of ubiquitination modulator COP1 as a novel therapeutic target in human hepatocellular carcinoma.우현구
2019Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis손영배, 장주영
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
2024Differential efficacy of tyrosine kinase inhibitors according to the types of EGFR mutations and agents in non-small cell lung cancer: a real-world study강석윤, 고영화, 김태환, 신승수, 안미선, 이현우, 최용원, 최진혁
2018Diffusion-Weighted Imaging of Brain Metastasis from Lung Cancer: Correlation of MRI Parameters with the Histologic Type and Gene Mutation Status정우상
2020Direct targeting of oncogenic RAS mutants with a tumor-specific cytosol-penetrating antibody inhibits RAS mutant-driven tumor growth이다근
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
2023Dual-phase 18F-FP-CIT positron emission tomography and cardiac 123I-MIBG scintigraphy of Parkinson's disease patients with GBA mutations: evidence of the body-first type?박동규, 안영실, 윤정한
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
2006ERK1/2 is an endogenous negative regulator of the gamma-secretase activity.백은주, 정민환
2000Evidence that the 5'-end cap structure is essential for encapsidation of hepatitis B virus pregenomic RNA.윤계순
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2019Functional Genomic Complexity Defines Intratumor Heterogeneity and Tumor Aggressiveness in Liver Cancer권소미, 우현구
2016G2385R and I2020T Mutations Increase LRRK2 GTPase Activity조은혜
2011Genetic basis of congenital and infantile nephrotic syndromes.배기수
2013Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests.손영배
2021Genetic profiles of subcutaneous panniculitis-like t-cell lymphoma and clinicopathological impact of havcr2 mutations한재호
2017Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases박해심
2023Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer안미선
2023Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea배기수
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
2020Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion장재락
2021High SLC2A1 expression associated with suppressing CD8 T cells and B cells promoted cancer survival in gastric cancer고영화
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
2011Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.김현주, 정선용
2018Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder김정현, 박찬배, 이영수, 임신영, 정선용
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