- A Case of Leber's Hereditary Optic Nouropathy Showing 11778 Point Mutation of Mitochondrial DNA
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Jung YS, Park SK, Lee SY, Hah JS, Park MY, Lee SJ, Lee J
- KMID: 1969409
- Yeungnam Univ J Med.
- 1999 Jun;16(1):114-118.
- doi: 10.12701/yujm.1999.16.1.114
Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON... -
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- OPTN gene Mutation in Normal-Tension Glaucoma
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Jeong DH, Kim MR, Mun YK, Kee C
- KMID: 2206655
- J Korean Ophthalmol Soc.
- 2003 Aug;44(8):1903-1907.
PURPOSE: We have evaluated the mutations of the OPTN gene, which has been reported to be associated with the normal tension glaucoma (NTG). METHODS: The OPTN gene was analyzed in... -
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- Patterns of p53 and H-ras Mutations related to Invasiveness and Differentiation of Transitional Cell Carcinoma in Human bladder
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Woo SH, Lee HL, Kim WJ
- KMID: 2290366
- Korean J Urol.
- 1999 Aug;40(8):963-970.
PURPOSE: To characterize the patterns of p53 & H-ras mutations related to invasiveness and differentiation of transitional cell carcinoma in human bladder. MATERIALS AND METHODS: Tissues from 52 patients diagnosed... -
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- Point mutation of c-K-ras oncogene and p21 protein expression of v-K-ras & v-H-ras of dimethylhydrazine-induced colon cancer in rats
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Kim YG, Park SM, Chang SK, Joo SY
- KMID: 1694253
- J Korean Cancer Assoc.
- 1992 Oct;24(5):619-629.
No abstract available. -
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- Aflatoxin Related p53 Codon 249 Point Mutation in Korean Hepatocellular Carcinoma
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Wang HJ, Hong SW, Park YS, Kim WH, Kim MW
- KMID: 1928537
- Korean J Hepatobiliary Pancreat Surg.
- 1998 Feb;2(1):79-83.
PURPOSE: P53 point mutation, especially G to T transversion at codon 249, has been found in many cases of the aflatoxin-related hepatocellular carcinoma(HCC). This study was aimed to exam the... -
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- Point mutation of K-ras oncogenes by paired polymerase chain reaction and gel electrophoresis in human colorectal cancers
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Park WC, Jeon HM, Chang SK, Choo SY
- KMID: 1693618
- J Korean Surg Soc.
- 1993 Jan;44(1):1-10.
No abstract available. -
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- Amplification of c-myc oncogene and detection of point mutation of c-K-ras oncogene by paired polymerase chain reaction in human colorectal carcinoma
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Park CH, Cho WI, Chang SK, Choo SY
- KMID: 2175488
- J Korean Cancer Assoc.
- 1991 Dec;23(4):683-692.
No abstract available. -
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- Molecular analysis of katG gene mutations in strains of Mycobacterium tuberculosis from Korea
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Park AJ, Lee MK
- KMID: 2225963
- Korean J Clin Pathol.
- 2000 Oct;20(5):469-474.
BACKGROUND: The genetic basis of isoniazid (INH) resistance in Mycobacterium tuberculosis has been attributed to at least four genes. Mutations of the katG gene encoding catalase-eroxidase have been shown to... -
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- The Frequency of Mitochondrial Gene Point Mutations in Korean Non-syndromic Sensorineural Hearing Loss
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Jeong HS, Lim MJ, Chang SO, Kim CS, Oh SH
- KMID: 2276112
- Korean J Otolaryngol-Head Neck Surg.
- 2004 Mar;47(3):206-211.
BACKGROUND AND OBJECTIVES: Mitochondrial point mutations have been shown to be responsible for syndromic and non-syndromic hearing impairment. Among these mitochondrial point mutations, 1555 A-->G, 3243 A-->G, and 7445 A-->G... -
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- Mutational Analysis of CDKN2 (p16-INK4A/MTS1) Gene in Childhood Acute Leukemia
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Yang CH, Lyu CJ, Kim KY
- KMID: 2278215
- Korean J Pediatr Hematol Oncol.
- 2001 Apr;8(1):35-41.
PURPOSE: The human chromosome 9p21 region that is a frequent site of deletions and rearrangements in many tumor types including leukemias implied the existence of a tumor suppressor gene within... -
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- Study of point mutation at codon 175 of p53 gene in breast carcinoma by PCR
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Kim YC, Kim CS, Kim SH, Mok YJ, Choi SY, Moon HY, Koo BH
- KMID: 1693957
- J Korean Surg Soc.
- 1993 Oct;45(4):465-470.
No abstract available. -
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- Huge Steatocystoma Multiplex with New Point Mutation in the Exon 1 of KRT 17 Gene
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Kim JY, Park JH, Sohng C, Jang YH, Lee SJ, Lee WJ
- KMID: 2419764
- Ann Dermatol.
- 2018 Oct;30(5):633-635.
- doi: 10.5021/ad.2018.30.5.633
No abstract available. -
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- Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder Syndrome: Point Mutation at T8356C: A New Mitochondrial Disease?
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Yoon SS, Lee MS, Kim MH, Lee TG, Chang DI, Chung KC
- KMID: 2195081
- J Korean Neurol Assoc.
- 2003 Jun;21(3):311-314.
We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neurogenic bladder. Genetic study in this patient shows point mutation at T8356C, the locus known as that of... -
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- Characterization of a Point Mutation in the First Intron of Bruton's Tyrosine Kinase ( Btk ) Gene
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Jo EK, Song CH, Song YJ, Min DL, Kim HJ, Lim K, Shong MH, Lee JH, Kim JS, Park JK
- KMID: 1646429
- Korean J Immunol.
- 2000 Dec;22(4):197-205.
No abstract available. -
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- Mutation Analysis of K-ras Codon 12 in Malignant Effusion
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Huh JW, Chi HS
- KMID: 2089550
- Korean J Clin Pathol.
- 1998 Sep;18(3):469-475.
BACKGROUND: Many studies suggest that point mutations of ras oncogene develop tumors. The advantages of body fluid analysis are easy accessibility and more simple procedure than tissue specimen. So, we... -
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- Mutation Analysis of RB1 Gene in Peripheral Blood of Retinoblastoma Patients
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Park JS, Choo YA, Kim DK
- KMID: 1559316
- Korean J Anat.
- 2002 Aug;35(4):335-342.
Retinoblastoma, a child tumor of the eye, is caused by two mutational events at the retinoblastoma gene (RB1). Retinoblastoma occurs in both hereditary and nonhereditary forms, and this distinction has... -
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- 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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- Mutation Analyses in Korean patients with MELAS (Mitochondrial Encephalomyopathy, Lactic acidosis, and Stroke like episodes)
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Yoo HW, Kim GH, Ko TS
- KMID: 1963063
- J Genet Med.
- 1997 Sep;1(1):39-44.
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is inherited maternally, in which the MTTL1*MELAS 3243 mutation has been most commonly found as a heteropla smy of A... -
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- ACVR1 Gene Mutation in Sporadic Korean Patients with Fibrodysplasia Ossificans Progressiva
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Lee DY, Cho TJ, Lee HR, Park MS, Yoo WJ, Chung CY, Choi IH
- KMID: 1779159
- J Korean Med Sci.
- 2009 Jun;24(3):433-437.
- doi: 10.3346/jkms.2009.24.3.433
Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare but extremely disabling genetic disorder of the skeletal system, and is characterized by the progressive development of ectopic ossification of skeletal... -
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- Mitochondrial DNA point mutations in Korean NIDDM patients
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Kim SK, Park KS, Shin CS, Kim SY, Cho BY, Lee HK, Koh CS
- KMID: 2008300
- J Korean Diabetes Assoc.
- 1997 Jun;21(2):147-155.
BACKGROUND: There are a few genes with proven potential for causing some form of NIDDM, These include the insulin gene, the insulin receptor gene, a gene linked to the adenosine... -
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