Browsing by Keyword : Mutation

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Showing results 76 to 135 of 194

Pub YearTitleAuthor(s)
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
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
2018Identifying candidates for gamma knife radiosurgery among elderly patients with brain metastases김세혁, 노태훈, 유남규, 정동환
2013IDH1 mutations in oligodendroglial tumors: comparative analysis of direct sequencing, pyrosequencing, immunohistochemistry, nested PCR and PNA-mediated clamping PCR.이다근
2004IKKgamma inhibits activation of NF-kappaB by NIK.이광
2023Immune profiles according to EGFR mutant subtypes and correlation with PD-1/PD-L1 inhibitor therapies in lung adenocarcinoma고영화, 박범희, 이현우, 한재호, 함석진
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
2019Increasing Prevalence of Group III Penicillin-Binding Protein 3 Mutations Conferring High-Level Resistance to Beta-Lactams Among Nontypeable Haemophilus influenzae Isolates from Children in Korea정현주
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
2016Initial clinical experience with BRAF(V600E) mutation analysis of core-needle biopsy specimens from thyroid nodules하은주
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
2016KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients정용식
2024Lazertinib versus Gefitinib as First-Line Treatment for EGFR-mutated Locally Advanced or Metastatic NSCLC: LASER301 Korean Subset최진혁
2022Longitudinal monitoring by next-generation sequencing of plasma cell-free DNA in ALK rearranged NSCLC patients treated with ALK tyrosine kinase inhibitors권민석
2015Loss of parkin promotes lipid rafts-dependent endocytosis through accumulating caveolin-1: implications for Parkinson's disease.박상면, 조은혜, 주일로, 차선희
2015LRRK2 G2019S mutation attenuates microglial motility by inhibiting focal adhesion kinase.강호철, 박상면, 조은혜, 주일로
2019Makorin 1 is required for Drosophila oogenesis by regulating insulin/Tor signaling김은영
2018Makorin 1 Regulates Developmental Timing in Drosophila김은영, 이해상, 정선용, 황진순
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.김영배, 백운기, 임인경, 조용관, 한상욱
2016MicroRNA Expression Signatures Associated With BRAF-Mutated Versus KRAS-Mutated Colorectal Cancers김영배, 서광욱, 이다근, 이현우, 최용원
2016Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication정성현, 조성란, 한재호
2011Mitochondrial DNA mutations in disease and aging.박찬배
2016Mitochondrial E3 Ubiquitin Protein Ligase 1 Mediates Cigarette Smoke-Induced Endothelial Cell Death and Dysfunction김선용
2001Mitogen-activated protein kinase signalling in oligodendrocytes: a comparison of primary cultures and CG-4.김승업
2004Mitotic aberration coupled with centrosome amplification is induced by hepatitis B virus X oncoprotein via the Ras-mitogen-activated protein/extracellular signal-regulated kinase-mitogen-activated protein pathway.이재호, 조혜성
2003Modulation of the N-type calcium channel gene expression by the alpha subunit of Go.김성환, 서해영, 이영돈
2023Molecular and Clinical Features of Fluconazole Non-susceptible Candida albicans Bloodstream Isolates Recovered in Korean Multicenter Surveillance Studies이위교
2021Molecular correlates and nuclear features of encapsulated follicular-patterned thyroid neoplasms김장희
2019Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte박준은, 정현주
2012Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations박동하, 윤수한, 정선용
2018mRNA Expression of SLC5A5 and SLC2A Family Genes in Papillary Thyroid Cancer: An Analysis of The Cancer Genome Atlas장전엽
2004Mutant p53 protein in the serum of patients with cervical carcinoma: correlation with the level of serum epidermal growth factor receptor and prognostic significance.최진혁
2005Mutation analysis of the MCM gene in Korean patients with MMA.김성환, 박준은, 정조원, 황진순
2022Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study박서진
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
2012Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism김현주, 정선용
2018Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics장정훈, 정연훈
2015Mutations in the Spliceosomal Machinery Genes SRSF2, U2AF1, and ZRSR2 and Response to Decitabine in Myelodysplastic Syndrome.박준성
2013Mutations of the TATA-binding protein confer enhanced tolerance to hyperosmotic stress in Saccharomyces cerevisiae.김완기
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
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