- Functional Study of Gene using Inducible Cre System
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Kim JE
- KMID: 1511984
- J Korean Endocr Soc.
- 2006 Oct;21(5):364-369.
- doi: 10.3803/jkes.2006.21.5.364
Gene manipulation by disrupting important genes using homologous recombination in mammals has provided important insights into their function and development with regard to disease. However, many questions related to the... -
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- A Program for Efficient Phasing of Three-Generation Trio SNP Genotype Data
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Song S, Kim S
- KMID: 1806241
- Genomics Inform.
- 2011 Sep;9(3):138-141.
Here, we report a computer program written in Python, which phases SNP genotypes and infers inherited deletions based on the pattern of Mendelian inheritance within a trio pedigree. When tiered... -
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- Genetic Studies of Psychiatric Disorders: The Basic Concepts and Methods of Quantitative Genetics
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Joo EJ, Kim YS
- KMID: 2340432
- J Korean Neuropsychiatr Assoc.
- 2000 Mar;39(2):257-272.
Quantitative medical genetics including genetic epidemiological studies, linkage studies, and association studies are the basis for molecular genetic studies to find the susceptible genes or responsible mutations for psychiatric disorders.... -
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- Determining Ion Collection Efficiency in a Liquid Ionization Chamber in Co-60 Beam
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Choi SH, Kim CH
- KMID: 1910558
- Prog Med Phys.
- 2014 Mar;25(1):46-52.
- doi: 10.14316/pmp.2014.25.1.46
Liquid ionization chamber is filled with liquid equivalent material unlike air filled ionization chamber. The high density material allow very small-volume chamber to be constructed that still have a sufficiently... -
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- Genome Architecture and Its Roles in Human Copy Number Variation
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Chen L, Zhou W, Zhang L, Zhang F
- KMID: 2391488
- Genomics Inform.
- 2014 Dec;12(4):136-144.
- doi: 10.5808/GI.2014.12.4.136
Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic... -
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- Structural Variation of Alu Element and Human Disease
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Kim S, Cho CS, Han K, Lee J
- KMID: 2353657
- Genomics Inform.
- 2016 Sep;14(3):70-77.
- doi: 10.5808/GI.2016.14.3.70
Transposable elements are one of major sources to cause genomic instability through various mechanisms including de novo insertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them is Alu element... -
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- A case of X-linked agammaglobulinemia with deletion of introns 15-18 of Btk gene mediated by Alu-Alu recombination
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Lee HJ, Ko JS, Kwon SS, Yoo JH, Min JK
- KMID: 2252751
- Korean J Med.
- 2003 Nov;65(Suppl 3):S798-S804.
X-linked agammaglobulinemia (XLA) is characterized by early onset of recurrent bacterial infection, markedly reduced levels of all major classes of immunoglobulins in the serum and few mature B cells in... -
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- Prevalence and molecular characterization of novel recombinant enterovirus G isolates in Jeju Province of South Korea
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Jeon JH, Lee C
- KMID: 2451643
- Korean J Vet Res.
- 2019 Jun;59(2):89-96.
- doi: 10.14405/kjvr.2019.59.2.89
Enterovirus species G (EV-G) is highly diverse, and is ubiquitous in pig populations, usually without diarrhea. The present study aimed to investigate the presence of novel EV-G recombinants with the... -
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- Sexual Life Cycle of Aspergillus fumigatus
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Kwon-Chung KJ, Sugui JA
- KMID: 1449525
- Korean J Med Mycol.
- 2011 Sep;16(3):81-85.
Aspergillus fumigatus, the major etiologic agent of invasive aspergillosis, is a bipolar heterothallic species that produces teleomorphs belonging to the genus Neosartorya. Unlike A. fischeri and other sexual species phylogenetically... -
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- Transposable Elements: No More 'Junk DNA'
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Kim YJ, Lee J, Han K
- KMID: 2053301
- Genomics Inform.
- 2012 Dec;10(4):226-233.
- doi: 10.5808/GI.2012.10.4.226
Since the advent of whole-genome sequencing, transposable elements (TEs), just thought to be 'junk' DNA, have been noticed because of their numerous copies in various eukaryotic genomes. Many studies about... -
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- A Prenatal Case of Paracentric Inversion of Chromosome 18, inv(18)(q21.1q22)
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An GH, Kim MY, Kim MH, Kim YY, Choi KH, Kwak DW, Park SY, Lee BY, Park JY, Ryu HM
- KMID: 1428903
- J Genet Med.
- 2012 Dec;9(2):101-103.
- doi: 10.5734/JGM.2012.9.2.101
Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks... -
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- Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients
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Jin DK, Beck NS, Oh PS
- KMID: 1963061
- J Genet Med.
- 1997 Sep;1(1):27-32.
Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia(CAH) and is caused by genetic impairment (CYP21B) of this enzyme. In the human genome, CYP21B is located within... -
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- The usefulness of the genetic markers at the low-density lipoprotein receptor gene locus for the genetic diagnosis of familial hypercholesterolemia
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Choi BJ, Park HY, Kim GY, Nm SM, Cho SY, Jang YS
- KMID: 1985204
- Korean J Med.
- 2000 Mar;58(3):283-292.
BACKGROUND: Familial hypercholesterolemia(FH) is an autosomal dominant metabolic disorder caused by the mutation in low density lipoprotein receptor(LDLR) gene. However, direct genetic diagnosis of LDLR gene mutation is not easily available because... -
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- The Effect of Genetic Variation in The Dna Base Repair Genes on the Risk of Head and Neck Cancer
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Oh JH, Yoon BW, Choi BJ
- KMID: 2005382
- J Korean Assoc Oral Maxillofac Surg.
- 2008 Oct;34(5):509-517.
DNA damage accumulates in cells as a result of exposure to exogenous agents such as benzopyrene, cigarette smoke, ultraviolet light, X-ray, and endogenous chemicals including reactive oxygen species produced from... -
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- 2019 Novel Coronavirus Disease Outbreak and Molecular Genetic Characteristics of Severe Acute Respiratory Syndrome-Coronavirus-2
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Jeong YS
- KMID: 2471832
- J Bacteriol Virol.
- 2020 Mar;50(1):1-8.
- doi: 10.4167/jbv.2020.50.1.001
The 2019 novel coronavirus disease (COVID-19) outbreaks that emerged in Wuhan city, Hubei province, have led to a formidable number of confirmed cases that resulted in >5,700 deaths globally, including... -
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- Activation-induced Cytidine Deaminase in B Cell Immunity and Cancers
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Park SR
- KMID: 2150754
- Immune Netw.
- 2012 Dec;12(6):230-239.
- doi: 10.4110/in.2012.12.6.230
Activation-induced cytidine deaminase (AID) is an enzyme that is predominantly expressed in germinal center B cells and plays a pivotal role in immunoglobulin class switch recombination and somatic hypermutation for... -
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- Clinical use of thermoluminescence in irradiated polyethylene
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Chu SS, Lee DH, Park CY
- KMID: 2463435
- J Korean Radiol Soc.
- 1981 Jun;17(1):174-180.
- doi: 10.3348/jkrs.1981.17.1.174
Thermoluminescent dosimeters(TLD) are nowadays widely used in radiation therapy to measure the radiation dose. We experimented the polymers to response in radiation and attempted to apply in clinical use, the... -
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- The roles of ARID1A in gynecologic cancer
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Mao TL, Shih IM
- KMID: 2177880
- J Gynecol Oncol.
- 2013 Oct;24(4):376-381.
- doi: 10.3802/jgo.2013.24.4.376
One of the exciting findings in recent cancer genome studies is the discovery of somatic mutations in several chromatin remodeling genes. These studies not only illuminate the emerging roles of... -
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- An Alternative Way of Constructing Ancestral Graphs Using Marker Allele Ages from Population Linkage Disequilibrium Information
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Park L
- KMID: 2166435
- Genomics Inform.
- 2009 Mar;7(1):1-12.
An alternative way of constructing ancestral graphs, which is different from the coalescent-based approach, is proposed using population linkage disequilibrium (LD) data. The main difference from the existing method is... -
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- PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data
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Entezam M, Khatami MR, Saddadi F, Ayati M, Roozbeh J, Keramatipour M
- KMID: 2311829
- Kidney Res Clin Pract.
- 2016 Jun;35(2):96-101.
- doi: 10.1016/j.krcp.2016.02.003
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder caused by mutation in 2 genes PKD1 and PKD2. Thus far, no mutation is identified in... -
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