• Title/Summary/Keyword: Genetic therapy

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DNAchip as a Tool for Clinical Diagnostics (진단의학 도구로서의 DNA칩)

  • 김철민;박희경
    • Proceedings of the Korean Institute of Intelligent Systems Conference
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    • 2004.04a
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    • pp.97-100
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    • 2004
  • The identification of the DNA structure as a double-stranded helix consting of two nucleotide chain molecules was a milestone in modern molecular biology. The DNA chip technology is based on reverse hybridization that follows the principle of complementary binding of double-stranded DNA. DNA chip can be described as the deposition of defined nucleic acid sequences, probes, on a solid substrate to form a regular array of elements that are available for hybridization to complementary nucleic acids, targets. DNA chips based on cDNA clons, oligonucleotides and genomic clons have been developed for gene expression studies, genetic variation analysis and genomic changes associated with disease including cancers and genetic diseases. DNA chips for gene expression profiling can be used for functional analysis in human eel Is and animal models, disease-related gene studies, assessment of gene therapy, assessment of genetically modified food, and research for drug discovery. DNA chips for genetic variation detection can be used for the detection of mutations or chromosomal abnormalities in cnacers, drug resistances in cancer cells or pathogenic microbes, histocompatibility analysis for transplantation, individual identification for forensic medicine, and detection and discrimination of pathogenic microbes. The DNA chip will be generalized as a useful tool in clinical diagnostics in near future. Lab-on-a chip and informatics will facilitate the development of a variety of DNA chips for diagnostic purpose.

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Novel Trimeric Complex for Efficient Uptake of Plasmid Vector into HepG2 Cells

  • Joo, Jong-Hyuck;Park, Jong-Gu
    • Biomedical Science Letters
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    • v.9 no.2
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    • pp.67-74
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    • 2003
  • Viral and non-viral vectors have been used in the delivery of genetic materials into animal cells and tissues, with each approach having pros and cons. Non-viral vectors have many useful merits such as easy preparation, low immunity and size tolerance of a transgene when compared to those of viral vectors. Delivery specificity may be achieved by complex formation between receptor ligands and a non-viral vector. In the present study, non-viral vector systems are investigated in an effort to find a practical delivery means for gene therapy, Receptor-ligand interaction between transferrin-receptor and transferrin was utilized for efficient gene transfer into cancer cells. A plasmid vector, pcDNA3 (LacZ) was ligated with a small duplexed oligo fragment in which a Biotin- VN$^{TM}$ phosphoramidite was placed in the middle of the oligo. The plasmid vector labeled by biotin was then conjugated with biotin-labeled transferrin via streptavidin. This trimeric conjugates were delivered to a hepatoma cell line, HepG2. The delivery efficiency of the trimeric conjugate was 2-fold higher than that of cationic liposomes used for transfection of a plasmid vector. These results demonstrate that a plasmid vector can be efficiently transferred into cells by forming a trimeric complex of plasmid vector-linker-ligand.

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Risk Assessment and Pharmacogenetics in Molecular and Genomic Epidemiology

  • Park, Sue-K.;Choi, Ji-Yeob
    • Journal of Preventive Medicine and Public Health
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    • v.42 no.6
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    • pp.371-376
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    • 2009
  • In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.

Identification of STAT5a Inhibitors for Breast Cancer Treatment Through In silico Approach

  • Bavya Chandrasekhar;Dona Samuel Karen;Veena Jaganivasan
    • Journal of Integrative Natural Science
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    • v.17 no.1
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    • pp.13-20
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    • 2024
  • Female breast cancer is the fifth highest cause of mortality. Breast cancer is the most prevalent type of cancer in women globally, while it can also affect men. STAT5A plays a role in its development and progression. Given that activation of STAT5a is frequently linked to the growth and progression of tumors, STAT5a has been identified as a possible target for the therapy of several cancers. STAT5A, in particular, has proven to be overexpressed in various breast cancer cell lines and tumors, and it has been associated to the promotion of tumour cell proliferation and survival. STAT5A inhibition has been shown in vitro and in vivo to reduce the development of breast cancer cells. As a result, we have screened compounds from the FDA database that might serve as potential inhibitors of STAT5a through virtual screening, docking, DFT and MD simulation approaches. The drug Nilotinib has shown promising results inhibiting STAT5a. Further, in-vitro analysis will be carried forward to understand the anti-cancer activity.

Imaging Gene Expression (유전자 발현 영상기법)

  • Lee, Kyung-Han
    • The Korean Journal of Nuclear Medicine
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    • v.34 no.1
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    • pp.1-9
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    • 2000
  • The rapid progress of molecular genetic methods over the past two decades has necessitated the development of methods to detect and quantify genetic activity within living bodies. Reporter genes provide a rapid and convenient tool to monitor gene expression by yielding a readily measurable phenotype upon expression when introduced into a biological system. Conventional reporter systems, however, are limited in their usefulness for in vivo experiments or human gene therapy because of its invasive nature which requires cell damage before assays can be performed. This offers an unique opportunity for nuclear imaging techniques to develope a novel method for imaging both the location and amount of gene expression noninvasively. Current developments to achieve this goal rely on utilizing either reporter enzymes that accumulate radiolabeled substrates or reporter receptors that bind specific radioligands. This overview includes a brief introduction to the background for such research, a summary of published results, and an outlook for future directions.

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Nonobstructive Bilateral Hydronephrosis & Hydroureter from Nephrogenic Diabetes Insipidus with a Novel Mutation of AQP2 Gene (p.A123G)

  • Song, Ki Sup;Soo, Jeon Ihn;Namgoong, Mee Kyung
    • Childhood Kidney Diseases
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    • v.20 no.2
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    • pp.88-91
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    • 2016
  • Nephrogenic diabetes insipidus (NDI) can cause nonobstructive hydronephrosis. Congenital NDI (CNDI) is caused by a genetic mutation. This case report presents a 12-year-old girl who was incidentally diagnosed with nonobstructive hydronephrosis due to NDI caused by AQP2 gene mutation after being evaluated for microscopic hematuria found on routine health examination at school. The patient's medical and family history was unremarkable, and she complained of nocturia only at the time of the clinic visit. Bilateral hydronephrosis on abdominal ultrasonography prompted a water deprivation test, leading to diagnosis of NDI. Genetic study confirmed p.Asn (AAC)123Ser (AGC) in exon 2 of the AQP2 gene. Polyuria and hydronephrosis improved following arginine-vasopressin therapy. CNDI responsive to treatment should be considered as a possible cause of nonobstructive hydroureter.

Therapeutic Appilication of Molecular Genetics in Psychiatry (정신과에서 분자유전학의 치료적 적용)

  • Lee, Min Soo
    • Korean Journal of Biological Psychiatry
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    • v.5 no.1
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    • pp.17-33
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    • 1998
  • Advances in molecular biology contribute to the understanding genetic mechanism of psychiatric disorders. They have renewed hope for the discovery of disease relevant gene. However, the results somewhat confused. And we will wait for a long time for the application of gene therapy in schizophreniar. Fortunately we could classified the schizophrenia with genotypes of dopamine and serotonin receptors. It is expected that this genetic classification could provide key strategy for the therapeutic application in biological treatment for schizophrenia. The purpose of this article is to call attention of the institute participants to linkage, association, mRNA expression, genotypic classification and to the need for more systemic research. The author summarized the modified methods which were done in his laboratory in appendix.

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Research of genetic polymorphisms of Sasang Constitution - focusing on SNP of MTHFR gene - (사상체질의 유전적 다형성 연구 - MTHFR의 단일염기다형성을 중심으로 -)

  • Song, Il-Byung;Lee, Su-Kyung
    • Journal of Sasang Constitutional Medicine
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    • v.13 no.2
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    • pp.177-181
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    • 2001
  • Sasang Constitutional Medicine is based on the diversity of Human being and medically developed the response variation to diseases and medicines. The diversity is categorized as four from physiology, pathology, symptoms, to therapy. So that is related the difference of individual characteristics in Western Science. Single nucleotide polymorphism is the basic tool to research genetic polymorphisms. We researched the polymorphism site of MTHFR gene on 1p36.3, which is relatively reported the occlusive vascular disease. In the clinical research of brain infarction, the occurrence was different according to constitution. The 677C/T Polymorphism site of MTHFR was not significantly different in constitution group. But this research was the first trial about the single nucleotide polymorphism according to constitution. The more researchs of many genes are necessary to find the characteristics of constitution.

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Activity-dependent plasticity in skeletal muscle (골격근의 활동 의존적 가소성)

  • Kim, Sik-Hyun
    • PNF and Movement
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    • v.6 no.1
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    • pp.41-51
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    • 2008
  • Purpose : This paper reviews evidence supporting adaptive plasticity in skeletal muscle fibers induced by various exercise training and neuromuscular activity. Result : Skeletal muscle fiber demonstrates a remarkable adaptability and can adjust its physiologic and contractile makeup in response to alterations in functional demands. This adaptive plasticity results from the ability of muscle fibers to adjust their molecular, functional, and contractile properties in response to altered physiological demands, such as changes in exercise patterns and mechanical loading. The process of activity-dependent plasticity in skeletal muscle involves a multitude of signalling mechanisms initiating replication of specific genetic sequences, enabling subsequent translation of the genetic message and ultimately generating a series of myosin heavy chain isoform. Conclusions : Knowledge of the mechanisms and interaction of activity-dependent adaptive pathways in skeletal muscle is important for our understanding of the synthesis of muscle myosin protein, maintenance of metabolic and functional capacity with physical activity, and therapeutic intervention for functional improvement.

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Mouse models of breast cancer in preclinical research

  • Park, Mi Kyung;Lee, Chang Hoon;Lee, Ho
    • Laboraroty Animal Research
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    • v.34 no.4
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    • pp.160-165
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    • 2018
  • Breast cancer remains the second leading cause of cancer death among woman, worldwide, despite advances in identifying novel targeted therapies and the development of treating strategies. Classification of clinical subtypes (ER+, PR+, HER2+, and TNBC (Triple-negative)) increases the complexity of breast cancers, which thus necessitates further investigation. Mouse models used in breast cancer research provide an essential approach to examine the mechanisms and genetic pathway in cancer progression and metastasis and to develop and evaluate clinical therapeutics. In this review, we summarize tumor transplantation models and genetically engineered mouse models (GEMMs) of breast cancer and their applications in the field of human breast cancer research and anti-cancer drug development. These models may help to improve the knowledge of underlying mechanisms and genetic pathways, as well as creating approaches for modeling clinical tumor subtypes, and developing innovative cancer therapy.