- A PCR-RFLP method for the detection of activated H-ras oncogene with a point mutation at codon 12 and 61
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Hong SJ, Lee T, Park YS, Lee KO, Chung BH, Lee SH
- KMID: 1728886
- Yonsei Med J.
- 1996 Dec;37(6):371-379.
- doi: 10.3349/ymj.1996.37.6.371
To investigate the incidence of the H-ras gene activation in bladder tumor and the feasibility of using urinary washout samples for screening, a series of 33 human bladder tumors and... -
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- Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution
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Park E, Park G, Park R, Kim HJ, Lee SJ, Cha YJ
- KMID: 1783157
- J Korean Med Sci.
- 2009 Dec;24(6):1203-1206.
- doi: 10.3346/jkms.2009.24.6.1203
This case study reports a rare fibrinogen variant, gamma Met310Thr mutation, for the first time in Korea. The case shows a point mutation from T to C in the 1,007th... -
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- A Novel Decorin Gene Mutation in Congenital Hereditary Stromal Dystrophy: A Korean Family
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Lee JH, Ki CS, Chung ES, Chung TY
- KMID: 1387399
- Korean J Ophthalmol.
- 2012 Aug;26(4):301-305.
- doi: 10.3341/kjo.2012.26.4.301
A 43-year-old man developed decreased vision in the right eye that had persisted for seven years. Under slit lamp examination, corneal clouding was noted with normal endothelium and ocular structure.... -
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- Leber's Hereditary Optic Neuropathy with 3460 Mitochondrial DNA Mutation
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Hwang JM, Chang BL, Koh HJ, Kim JY, Park SS
- KMID: 648694
- J Korean Med Sci.
- 2002 Apr;17(2):283-286.
- doi: 10.3346/jkms.2002.17.2.283
Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease causing acute or subacute, bilateral optic atrophy mainly in young men. It is found to be a mitochondrial disorder with... -
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- Point Mutation of Hoxd12 in Mice
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Cho KW, Kim JY, Cho JW, Cho KH, Song CW, Jung HS
- KMID: 1782945
- Yonsei Med J.
- 2008 Dec;49(6):965-972.
- doi: 10.3349/ymj.2008.49.6.965
PURPOSE: Genes of the HoxD cluster play a major role in vertebrate limb development, and changes that modify the Hoxd12 locus affect other genes also, suggesting that HoxD function is... -
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- Carbon monoxide poisoning as an epigenetic factor for Leber's hereditary optic neuropathy
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Hwang JM, Park HW
- KMID: 1735169
- Korean J Ophthalmol.
- 1996 Dec;10(2):122-123.
- doi: 10.3341/kjo.1996.10.2.122
A 45-year-old Korean woman visited our hospital complaining of poor vision after carbon monoxide (CO) poisoning. We have confirmed the presence of a point mutation at position 11778 in the... -
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- A common mutation in cholesteryl ester transfer protein gene and plasma HDL cholesterol level before and after hormone replacement therapy in Korean postmenopausal women
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Choi HS, Park JB, Han KO, Yim CH, Jung HY, Jang HC, Yoon HK, Cho DH, Shin HH, Han IK
- KMID: 1129106
- Korean J Intern Med.
- 2002 Jun;17(2):83-87.
BACKGROUND: Plasma cholesteryl ester transfer protein (CETP) functions to transfer cholesteryl ester from HDL to triglyceride-rich lipoproteins and regulates plasma HDL cholesterol level. A common mutation, the exon 15 A... -
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- Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report
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Kim IS, Ki CS, Park KJ
- KMID: 1713855
- J Korean Med Sci.
- 2010 Jan;25(1):180-184.
- doi: 10.3346/jkms.2010.25.1.180
We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. The G14459A mutation has been... -
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- Familial Creutzfeldt-Jakob Disease with V180I Mutation
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Yang TI, Jung DS, Ahn BY, Jeong BH, Cho HJ, Kim YS, Na DL, Geschwind , Kim EJ
- KMID: 1792966
- J Korean Med Sci.
- 2010 Jul;25(7):1097-1100.
- doi: 10.3346/jkms.2010.25.7.1097
Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion... -
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- Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report
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Kim CJ, Woo YJ, Kim GH, Yoo HW
- KMID: 1782028
- J Korean Med Sci.
- 2009 Oct;24(5):979-981.
- doi: 10.3346/jkms.2009.24.5.979
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. We report a... -
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- A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene
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Lee EH, Ahn MS, Hwang JS, Ryu KH, Kim SJ, Kim SH
- KMID: 1781895
- J Korean Med Sci.
- 2006 Oct;21(5):800-804.
- doi: 10.3346/jkms.2006.21.5.800
Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment.... -
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- Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
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Kim J, Jung J, Lee MG, Choi JY, Lee KA
- KMID: 2155423
- Exp Mol Med.
- 2015 Jun;47(6):e169.
- doi: 10.1038/emm.2015.32
GJB2 alleles containing two cis mutations have been rarely found in non-syndromic hearing loss. Herein, we present a Korean patient with non-syndromic hearing loss caused by the R75Q cis mutation... -
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- The C677 Mutation in Methylene Tetrahydrofolate Reductase Gene: Correlation with Uric Acid and Cardiovascular Risk Factors in Elderly Korean men
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Hong YS, Lee MJ, Kim KH, Lee SH, Lee YH, Kim BG, Jeong B, Yoon HR, Nishio H, Kim JY
- KMID: 1733478
- J Korean Med Sci.
- 2004 Apr;19(2):209-213.
- doi: 10.3346/jkms.2004.19.2.209
The C677T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene results in elevated homocysteine levels and, presumably, in increased cardiovascular risk. Moreover, elevated homocysteine levels are reportedly associated with high... -
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- Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
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Moon IS, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS
- KMID: 1783130
- J Korean Med Sci.
- 2009 Dec;24(6):1038-1044.
- doi: 10.3346/jkms.2009.24.6.1038
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding... -
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- Prevalence of BRCA1 and BRCA2 Mutations in Korean Breast Cancer Patients
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Ahn SH, Hwang UK, Kwak BS, Yoon HS, Ku BK, Kang HJ, Kim JS, Ko BK, Ko CD, Yoon KS, Cho DY, Kim JS, Son BH
- KMID: 1733488
- J Korean Med Sci.
- 2004 Apr;19(2):269-274.
- doi: 10.3346/jkms.2004.19.2.269
The incidence of breast cancer in Korea has been increasing in recent years, such that it is now the most common female cancer. Breast cancer in Korea is characterized by... -
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- B-RafV600E inhibits sodium iodide symporter expression via regulation of DNA methyltransferase 1
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Choi YW, Kim HJ, Kim YH, Park SH, Chwae YJ, Lee J, Soh EY, Kim JH, Park TJ
- KMID: 2155385
- Exp Mol Med.
- 2014 Nov;46(11):e120.
- doi: 10.1038/emm.2014.68
B-RafV600E mutant is found in 40-70% of papillary thyroid carcinoma (PTC) and has an important role in the pathogenesis of PTC. The sodium iodide symporter (NIS) is an integral plasma... -
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