- Genome Editing Using Engineered Nucleases
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Shin JH, Kim H
- KMID: 2162812
- J Korean Orthop Res Soc.
- 2015 Dec;18(2):60-73.
- doi: 10.0000/jkors.2015.18.2.60
Genome editing is a useful research tool essentially applicable to gene therapy in the field of biotechnology, pharmaceutics and medicine. Scientists have developed three types of programmable nucleases for genome... -
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- Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
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Shim YS, Choi W, Hwang IT, Yang S
- KMID: 1789533
- Ann Pediatr Endocrinol Metab.
- 2015 Mar;20(1):59-63.
- doi: 10.6065/apem.2015.20.1.59
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who... -
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- Study on Mutation of ras Gene in DMBA induced Carcinoma of Hamster Buccal Pouch
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Song SC, Kim KW, Lee JH, Kim CJ
- KMID: 1961256
- J Korean Assoc Oral Maxillofac Surg.
- 2000 Dec;26(6):581-590.
Alterations in the cellular genome affecting the expression or function of genes controlling cell growth and differentiation are considered to be the main cause of cancer. Over 30 oncogenes can... -
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- Two Novel Mutations in the HSN2 Gene Identified in a Korean Patients with Hereditary Sensory Autonomic Neuropathy Type II
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Bae JS, Cho HJ, An JY, Kim BJ, Ki CS
- KMID: 1527879
- J Korean Neurol Assoc.
- 2007 May;25(2):251-254.
A 38-year-old Korean man was diagnosed with hereditary sensory and autonomic neuropathy (HSAN) type 2 because of his chronic sensory neuropathy and progressive acro-mutilation. Genetic analysis revealed that he was... -
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- Novel insertion mutation of ABCB1 gene in an ivermectin-sensitive Border Collie
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Han JI, Son HW, Park SC, Na KJ
- KMID: 1072184
- J Vet Sci.
- 2010 Dec;11(4):341-344.
- doi: 10.4142/jvs.2010.11.4.341
P-glycoprotein (P-gp) is encoded by the ABCB1 gene and acts as an efflux pump for xenobiotics. In the Border Collie, a nonsense mutation caused by a 4-base pair deletion in... -
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- Phase Variation of Biofilm Formation in Staphylococcus aureus by IS 256 Insertion and Its Impact on the Capacity Adhering to Polyurethane Surface
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Kiem S, Oh WS, Peck KR, Lee NY, Lee JY, Song JH, Hwang ES, Kim EC, Cha CY, Choe KW
- KMID: 1778556
- J Korean Med Sci.
- 2004 Dec;19(6):779-782.
- doi: 10.3346/jkms.2004.19.6.779
While ica gene of Staphylococcus epidermidis is known to undergo phase variation by insertion of IS256, the phenomenon in Staphylococcus aureus has not been evaluated. Six biofilm-positive strains were tested... -
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- Polymorphisms of Angiotensin-converting Enzyme Gene Associated in Patients with COPD with or without Bronchial Hyperresponsiveness
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Kim SS, Choi EG, Park SJ, Lee HB, Lee YC, Rhee YK
- KMID: 2132196
- Tuberc Respir Dis.
- 2005 Jan;58(1):25-30.
- doi: 10.4046/trd.2005.58.1.25
BACKGROUND: An insertion-deletion polymorphism of angiotensin converting enzyme (ACE) gene has been shown to be associated with enzyme activity levels of ACE. Reported results that have been mutually contradictory about... -
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- Generation of knockout mouse models of cyclin-dependent kinase inhibitors by engineered nuclease-mediated genome editing
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Park BM, Roh JI, Lee J, Lee HW
- KMID: 2459304
- Lab Anim Res.
- 2018 Dec;34(4):264-269.
- doi: 10.5625/lar.2018.34.4.264
Cell cycle dysfunction can cause severe diseases, including neurodegenerative disease and cancer. Mutations in cyclin-dependent kinase inhibitors controlling the G1 phase of the cell cycle are prevalent in various cancers.... -
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- Detection of single nucleotide insertion of BCR/ABL region in imatinib-resistant human myelogenous leukemia SR-1 cells
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Park TH, Kwon HC, Kim HJ, Han JY, Jeong JS, Han H, Seo CY, Kwak JY, Park JI
- KMID: 1089462
- Exp Mol Med.
- 2005 Oct;37(5):507-511.
Imatinib mesylate is a selective Bcr/Abl kinase inhibitor and an effective anticancer agent for Bcr/Abl-positive chronic myelogenous leukemia. Most patients in chronic phase maintain durable responses; however, many in blast... -
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- The Relationship between ACE I/D Polymorphism and HDL Cholesterol
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You CH, Hong YS, Kwak JY, Kim NY, Roh MS, Jung KY, Lee YH, Kim JM, Kim JY
- KMID: 1074492
- J Prev Med Public Health.
- 2006 Nov;39(6):505-510.
OBJECTIVES: The purpose of this study is to evaluate the association of the angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with cardiovascular disease risk factors. METHODS: Out of a... -
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- Clinical, Electrophysiological, and Genetic Analysis in a Family with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
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Sohn SI, Cho YW, Yi SD, Kim DK, Jung DK, Lee H, Lim JG, Lee JH
- KMID: 2137962
- J Korean Neurol Assoc.
- 2002 Nov;20(6):600-611.
BACKGROUND: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a distinct epilepsy syndrome and a genetically heterogeneous disorder linked to chromosomes 20q13.2, 15q24, and 1p21. Missense and insertion mutations in... -
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- Genetic Analysis of Dystrophin Gene for Affected Male and Female Carriers with Duchenne/Becker Muscular Dystrophy in Korea
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Lee BL, Nam SH, Lee JH, Ki CS, Lee M, Lee J
- KMID: 1792998
- J Korean Med Sci.
- 2012 Mar;27(3):274-280.
- doi: 10.3346/jkms.2012.27.3.274
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six... -
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- Tissue Plasminogen Activator and Plasminogen Activator Inhibitor Type 1 Gene Polymorphism in Patients with Gastric Ulcer Complicated with Bleeding
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Kim HS, Hwang KY, Chung IK, Park SH, Lee MH, Kim SJ, Hong SY
- KMID: 1099794
- J Korean Med Sci.
- 2003 Feb;18(1):58-64.
- doi: 10.3346/jkms.2003.18.1.58
Tissue plasminogen activator (t-PA) and plasminogen activator inhibitor type 1 (PAI-1) may be involved in the pathogenesis of peptic ulcers through suppression of fibrinolysis. This study was designed to investigate... -
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- Comparison of Anthropometric and Obesity Indices Across the UCP2 Insertion/Deletion Gene Polymorphism in Apparently Healthy Men of 20~0 Years Old
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Lee JH, Lee YW, Kang HS
- KMID: 1992544
- Korean J Obes.
- 2005 Sep;14(3):163-169.
The purpose of the study was to compare the anthropometric and body composition variables across the uncoupling protein-2 (UCP2) gene insertion (I)/deletion (D) polymorphism. A total of 200 apparently healthy... -
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- Clinical Outcomes of EGFR Exon 20 Insertion Mutations in Advanced Non-small Cell Lung Cancer in Korea
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Byeon S, Kim Y, Lim SW, Cho JH, Park S, Lee J, Sun JM, Choi YL, Lee SH, Ahn JS, Park K, Ahn MJ
- KMID: 2464409
- Cancer Res Treat.
- 2019 Apr;51(2):623-631.
- doi: 10.4143/crt.2018.151
PURPOSE: Epidermal growth factor receptor (EGFR) exon 20 insertion mutations account for approximately 4% of all EGFR mutations. Given the rarity of this mutation, its clinical outcomes are not fully... -
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- NAD(P)H: Quinone Oxidoreductase 1 and NRH:Quinone Oxidoreductase 2 Polymorphisms in Papillary Thyroid Microcarcinoma: Correlation with Phenotype
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Lee J, Kim KS, Lee MH, Kim YS, Lee MH, Lee SE, Kim YK, Ryu MJ, Kim SJ, Choi MJ, Jo YS
- KMID: 1793163
- Yonsei Med J.
- 2013 Sep;54(5):1158-1167.
- doi: 10.3349/ymj.2013.54.5.1158
PURPOSE: NAD(P)H:Quinone Oxidoreductase 1 (NQO1) C609T missense variant (NQO1*2) and 29 basepair (bp)-insertion/deletion (I29/D) polymorphism of the NRH:Quinone Oxidoreductase 2 (NQO2) gene promoter have been proposed as predictive and prognostic... -
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