- The study of RHD gene mutation in weak D
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Lim CS, Kim CH, Kim IT, Ma KR, Kim YK, Lee KN, Kim DC
- KMID: 2300143
- Korean J Blood Transfus.
- 1997 Dec;8(2):83-88.
BACKGROUND: The weak D is characterized serologically by a weak or negative agglutination reaction with polyclonal anti-D in an immediate-spin test and agglutination is enhanced in the indirect antiglobulin test.... -
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- No Association of Factor XIII Val34Leu Polymorphism with Primary Intracerebral Hemorrhage and Healthy Controls in Korean Population
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Cho KH, Kim BC, Kim MK, Shin BA
- KMID: 648685
- J Korean Med Sci.
- 2002 Apr;17(2):249-253.
- doi: 10.3346/jkms.2002.17.2.249
The polymorphism in the factor XIII A-subunit gene (FXIII Val34Leu) has been recognized as a risk factor for primary intracerebral hemorrhage (PICH). In addition, FXIII Val34Leu has a significant ethnic... -
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- Detecting p53 gene mutation of breast cancer and defining differences between silver staining PCR-SSCP and immunohistochemical staining
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Ryu JW, Lee MC, Jang WC
- KMID: 1731238
- J Korean Med Sci.
- 2000 Feb;15(1):73-77.
- doi: 10.3346/jkms.2000.15.1.73
This study detects and defines the patterns of p53 gene mutations in breast cancers. We analyse p53 gene mutations through comparing the results of single-strand-conformation-polymorphism (SSCP) and immunohistochemistry (IHC), and... -
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- Expression of p58 in Fetal Thymocytes and Fetal Liver Lymphocytes
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Kim JD, Choi IH, Shin JS, Kim SJ, Kwon DH, Park HW, Shin EC
- KMID: 2083010
- Korean J Immunol.
- 1998 Mar;20(1):17-24.
Bipotent progenitors for T and natural killer (NK) lymphocytes are thought to exist among early precursor thymocytes or liver lymphocytes. The identification of such a progenitor population or mature NK... -
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- Genetic Abnormality and Localization of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in Patients with Nasal Polyps
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Jang YJ, Oh CH, Lee CH
- KMID: 2297716
- J Rhinol.
- 2000 May;7(1):22-27.
BACKGROUND AND OBJECTIVES: Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel protein, its kinetics and localization are altered in cystic fibrosis. The purpose of this study was to... -
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- Genetic Variation in Exon 3 of Human Apo B mRNA Editing Protein (apobec-1) Gene
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Hong SH, Song JH, Kim JQ
- KMID: 1536938
- J Genet Med.
- 1999 Dec;3(1):15-20.
We have investigated the genetic variation in the human apo B mRNA editing protein (apobec-1) gene. Exon 3 of the apobec-1 gene was amplified by polymerase chain reaction. After detection... -
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- The Development of Molecular Detection Method and Differentiation of Genotypes of Enterovirus
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Kim ES, Nam JH, Kim YK, Kim KS, Yoon JD
- KMID: 1541344
- J Korean Soc Virol.
- 1997 Dec;27(2):169-176.
In this study, the feasibility of identification and genotypic differentiation of enteroviruses was investigated by using nested reverse transcription-polymerase chain reaction (nested RT-PCR), single-stranded conformation polymorphism (SSCP), and restriction fragment... -
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- Glucokinase gene mutation in non-insulin-dependent diabetes mellitus (NIDDM), and secondary diabetes in Koreans
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Nam JH, Lee HC, Kim YE, Kwon SH, Yoon YS, Park SW, Cha BS, Won YJ, Song YD, Lee EJ, Lim SK, Kim KR, Huh KB
- KMID: 2306363
- Korean J Med.
- 1998 Jun;54(6):755-764.
OBJECTIVES: Mutations in the glucokinase (GCK) gene are considered a possible cause of maturity-onset diabetes of the young. The purpose of this study was to evaluate the contribution of this... -
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- A Single Nucleotide Polymorphism in the E-cadherin Gene Promoter-160 is Not Associated with Risk of Korean Gastric Cancer
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Park WS, Cho YG, Park JY, Kim CJ, Lee JH, Kim HS, Lee JW, Song YH, Park CH, Park YK, Kim SY, Nam SW, Lee SH, Yoo NJ, Lee JY
- KMID: 648900
- J Korean Med Sci.
- 2003 Aug;18(4):501-504.
- doi: 10.3346/jkms.2003.18.4.501
Recently, the -160 C/A polymorphism, located within the regulatory region of E-cadherin promoter, has been shown to influence E-cadherin transcription by altering transcription factor binding. We examined the effect of... -
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- Changes in enzyme activity and expression of DHFR of Toxoplasma gondii by antifolates
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Baek EJ, Nam HW
- KMID: 662563
- Korean J Parasitol.
- 1998 Sep;36(3):191-198.
- doi: 10.3347/kjp.1998.36.3.191
The responses to antifolates of Toxoplasma gondii were investigated by measuring the dihydrofolate reductase (DHFR) activity, quantity of DHFR mRNA, and single-strand conformational polymorphism (SSCP) pattern. Pyrimethamine (PYM) and methotrexate... -
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- A Comparative Study of the Detection of the p53 Abnormality in Breast Cancer by Using PCR-SSCP and Antibody Staining
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Bae JW, Lee ES, Cho MY, Koo BH, Whang CW, Kim IS, Park SH, Lee MJ
- KMID: 2145324
- J Korean Surg Soc.
- 1999 Feb;56(2):167-173.
BACKGROUND: Mutations eliminating or altering the p53 protein function are the single most common genetic alteration in nearly all types of human cancers. The project of the p53 gene is... -
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- TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma
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Kee C, Ahn BH
- KMID: 1375118
- Korean J Ophthalmol.
- 1997 Dec;11(2):75-78.
- doi: 10.3341/kjo.1997.11.2.75
To identify TIGR gene mutation in two Korean pedigrees of primary open-angle glaucoma (POAG), and in 25 steroid-induced glaucoma patients, TIGR gene assay was performed. Genomic DNA was extracted from... -
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- Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1
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Park KC, Choi HO, Han WS, Hwang JH, Park KH, Kim KH, Chung JH, Eun HC
- KMID: 965876
- J Korean Med Sci.
- 2000 Oct;15(5):542-544.
- doi: 10.3346/jkms.2000.15.5.542
Neurofibromatos is type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. The NF-1 gene has... -
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- p53 Protein Overexpression and p53 Mutations in Invasive Breast Carcinomas Comparison to lymph node status, DNA ploidy and histologic grade
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Shin JH, Pae WK, Kim CS, Kang YG, Lee D, Won NH
- KMID: 1940347
- J Korean Surg Soc.
- 1998 May;54(5):621-630.
Functional loss of the tumor suppressor gene p53 is one of the most frequently detected and diffusely distributed findings among human cancers. Their mutant protein products or point mutations can... -
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- Development of Mutation Scanning Method for the Molecular Diagnosis of beta-thalassemia using Dideoxy Fingerprinting (ddF)
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Joo SI, Park SS
- KMID: 1963108
- J Clin Pathol Qual Control.
- 2001 Jun;23(1):193-199.
BACKGROUND: beta-Thalassaemia is the most common single-gene disorders due to the mutations of the beta-globin gene. Because beta-thalassemic mutations are scattered throughout the beta-globin gene, mutation scanning technique may be... -
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- Heterogeneous HBV mutants coexist in Korean hepatitis B patients
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Keum WK, Kim JY, Kim JY, Chi SG, Hong JW, Kim SS, Ha JH, Kang IS
- KMID: 754997
- Exp Mol Med.
- 1998 Jun;30(2):115-122.
Although many hepatitis B virus (HBV) mutants have been found in all open reading frames since the precore defective mutant was initially reported, systematic investigations of diverse HBV mutant populations in hepatitis... -
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- Mutational Analysis of p53, p21WAF1 and p16INK4a in Human Cervical Carcinomas
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Suh SI, Choi EJ, Baek WK, Suh MH, Cho CH, Lee TS, Cha SD
- KMID: 2146932
- J Korean Soc Microbiol.
- 1998 Aug;33(4):415-423.
Human papillomavirus (HPV) infection has been implicated to be an important causative factor for the development of cervical carcinoma. p53 gene mutation is common in human malignancies, and it is... -
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- Immunohistochemical and SSCP analysis of p53 in malignant lymphomas
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Park CK, Lee JD
- KMID: 1038162
- J Korean Med Sci.
- 1998 Aug;13(4):361-368.
- doi: 10.3346/jkms.1998.13.4.361
We immunohistochemically investigated Epstein-Barr virus (EBV)-positive and negative 31 malignant lymphomas (MLs) for p53 protein using a monoclonal antibody which is expressed on a wild type and mutant human... -
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- Molecular Analysis of Oculocutaneous Albinism Patients in Korea
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Hwang JH, Youn SW, Ahn JS, Kim KH, Park KC
- KMID: 2360359
- Ann Dermatol.
- 1997 Jul;9(3):182-187.
- doi: 10.5021/ad.1997.9.3.182
BACKGROUND: Oculocutaneous albinism (OCA) is a genetic disorder of the melanin pigment system in which melanin synthesis is reduced or absent in the skin, hair, and eyes. OCA is classified... -
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- Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients
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Chaturvedi LS, Mukherjee , Srivastava S, Mittal RD, Mittal B
- KMID: 1457538
- Exp Mol Med.
- 2001 Dec;33(4):251-256.
Duchenne and Becker muscular dystrophies (D/BMD) are caused by mutations in the dystrophin gene. Two-thirds of patients have large intragenic deletions or duplications and the remaining one-third have point mutations,... -
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