- A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
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Koh HJ, Jwa NS, Kim SS, Lee SC, Kwon OW
- KMID: 1099074
- Korean J Ophthalmol.
- 2006 Mar;20(1):62-64.
- doi: 10.3341/kjo.2006.20.1.62
PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with... -
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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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- Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
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Yi SE, Hong YH, Kim DH, Lee JS, Kim GH, Yoo HW, Joo IS
- KMID: 1966485
- J Korean Neurol Assoc.
- 2011 Nov;29(4):365-367.
Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense... -
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- Detection of p53 Mutation in Gastric Cancer by Nonradioactive SSCP(mini-SSCP)
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Yoo KK, Do JH, Heo CH, Moon C, Kim HJ, Lee TJ, Yoo JH, Chang JS, Lee SJ, Chang SK, Park SM
- KMID: 2084742
- Korean J Gastroenterol.
- 1997 May;29(5):601-609.
BACKGROUND/AIMS: p53 mutation was reported in many studies, but conventional PCR-SSCP protocol using radiolabeled PCR primers or nucleotides to generate a radioactive PCR products is cumbersome to handle. With the... -
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- Characteristics of the Germline MEN1 Mutations in Korea: A Literature Review
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Lee SC, Min JW, Kim YM, Chang MC
- KMID: 1709075
- Korean J Endocr Surg.
- 2014 Mar;14(1):7-11.
PURPOSE: Multiple endocrine neoplasia type 1 (MEN-1) is an autosomal dominant disease caused by the MEN1 germline mutation. We reviewed previous reports in order to summarize the characteristics of germline... -
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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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- A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
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Kim JH, Cho SM, Chae JH
- KMID: 2375172
- Korean J Pediatr.
- 2017 Mar;60(3):94-97.
- doi: 10.3345/kjp.2017.60.3.94
Trimethylaminuria (TMAuria), known as “fish odor syndrome,†is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine... -
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- SPINK1 N34S Mutation as a Possible Cause of Chronic Pancreatitis in a Patient with Familial Background
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Oh HC, Lee TY, Kwon S, Lee SS, Seo DW, Lee SK, Kim MH
- KMID: 782875
- Korean J Gastroenterol.
- 2007 Jun;49(6):384-389.
New insight in the field of chronic pancreatitis was provided by the discovery of protease serine 1 (PRSS1) mutation, inherited by autosomal dominant trait in hereditary pancreatitis. Serine protease inhibior,... -
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- Angiogenesis and p53 Mutation in Oral and Oropharyngeal Squamous Cell Carcinoma
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Sun DI, Kim MS, Cho SH, Kim BK, Suh BD
- KMID: 2274730
- Korean J Otolaryngol-Head Neck Surg.
- 2000 Jul;43(7):751-757.
BACKGROUND AND OBJECTIVES: It is well known that microvessel density (MVD) and p53 gene mutation are significantly correlated with tumor behaviors in some types of cancer: however, some studies have... -
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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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- DNA Sequencing of p53 Gene Mutation in Colorectal Carcinomas
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Shim YR, Choi JH, Choi WH
- KMID: 2011648
- Korean J Pathol.
- 1999 Jun;33(6):422-433.
Mutations in the p53 gene occur during the development of colorectal carcinomas, and play an important role in the conversion of adenoma into carcinoma. To detect the p53 gene mutation... -
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- Frequency of BRCA1 and BRCA2 Germline Mutations Detected by Protein Truncation Test and Cumulative Risks of Breast and Ovarian Cancer among Mutation Carriers in Japanese Breast Cancer Families
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Ikeda N, Miyoshi Y, Ikeda N, Yoneda K, Kinoshita , Noguchi S
- KMID: 1572481
- J Korean Breast Cancer Soc.
- 2002 Sep;5(3):194-201.
- doi: 10.4048/jkbcs.2002.5.3.194
The purpose of this investigation is to study the frequency and penetrance of BRCA1 and BRCA2 germline mutations in Japanese familial breast cancer patients. Mutation analysis of BRCA1 and BRCA2... -
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- 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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- Mutation of the N-ras Gene in a Patient Suffering from the Blast Phase of Chronic Myelogenous Leukemia
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Song SH, Roh YW, Ahn YW, Kim YJ, Byoun YS, Choi JY, Hwang DW, Park BB, Choi JH, Kim IS, Kim BK, Lee YY
- KMID: 2252154
- Korean J Hematol.
- 2009 Jun;44(2):100-103.
- doi: 10.5045/kjh.2009.44.2.100
The blast phase in chronic myelogenous leukemia (CML) is associated with mutation of several genes. It is well known that p53 gene mutation plays a key role in the myeloid... -
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- The p53 Mutation and DNA Ploidy in Human Metastatic Breast Cancer
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Cho SJ, Kim AR, Won NH
- KMID: 1725216
- Korean J Pathol.
- 1997 Feb;31(2):135-144.
The p53 gene, one of the tumor suppressor genes, is believed to play an important role through mutation and overexpression in the progression of various human malignant tumors. To compare... -
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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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- Mutation Analysis of Genes Related to Gastrointestinal Stromal Tumors
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Ryu SW, Jeong CW, Hwang JY, Kim IH, Jeong HS, Kang YN, Sohn SS, Kim DK
- KMID: 2325051
- J Korean Surg Soc.
- 2005 Feb;68(2):107-116.
PURPOSE: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumor of the gastrointestinal tract. Recent studies have revealed much of the biological and genetics underpinning GISTs. METHODS: KIT, PDGFRA,... -
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- Study on the Factor V Leiden Mutation in Pregnant Women and Relationship with Preeclampsia Severe Form
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Lee JL, Lee SG, Lee JJ, Lee HH, Chung JK, Choi KY, Lee IS, Lee KH
- KMID: 2140604
- Korean J Perinatol.
- 2002 Dec;13(4):406-412.
OBJECTIVE: A study showed that resistance to activated protein C may develope some cases of severe preeclampsia. A common missense mutation in the factor V gene, the Leiden mutation, is... -
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- Polymorphism of UDP-glucuronosyltransferase Gene(UGT1A1) of Neonatal Hyperbilirubinemia in Korea
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Hong KW, Kang H, Kim IS, Kim JS, Kim ER, Lee HJ, Jin SY, Chung JH
- KMID: 2140973
- Korean J Pediatr.
- 2004 Jan;47(1):18-23.
PURPOSE: The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in whites and its metabolic basis has not been clearly explained. Recently, UDP-glucuronosyltransferase gene (UGT1A1) mutation... -
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- Comparative Study of p53 Mutation and Oncoprotein Expression in Gastric Adenocarcinoma
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Kim C, Joo JK, Choi C, Kim YJ
- KMID: 1515764
- J Korean Gastric Cancer Assoc.
- 2003 Sep;3(3):145-150.
PURPOSE: The p53 tumor suppressor gene is believed to play a pivotal role in preventing the uncontrolled cellular growth characteristic of cancer. Mutation of the p53 gene represent one of... -
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