- nm23-H1 Protein Expression and Gene Mutation in 150 Patients with Non-Hodgkin's Lymphomas
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Lee JH, Cho SJ, Zhang X, Zheng Z, Lee ES, Kim A, Kim YS, Chae YS, Kim I
- KMID: 2157815
- J Korean Med Sci.
- 2006 Aug;21(4):645-651.
- doi: 10.3346/jkms.2006.21.4.645
The metastasis-suppressing role of the nm23 gene in the metastatic spread of malignant tumor is still debated. We examined the nm23-H1 protein expression and gene mutation in non-Hodgkin's lymphomas to... -
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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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- De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases
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Mukherjee , Chaturvedi LS, Srivastava S, Mittal RD, Mittal B
- KMID: 1097259
- Exp Mol Med.
- 2003 Apr;35(2):113-117.
Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polymorphic... -
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- Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene
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Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW
- KMID: 2157828
- J Korean Med Sci.
- 2006 Aug;21(4):724-727.
- doi: 10.3346/jkms.2006.21.4.724
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF... -
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- Hepatocyte nuclear factor 1-alpha mutation in normal glucose-tolerant subjects and early-onset type 2 diabetic patients
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Lim DM, Huh N, Park KY
- KMID: 1100763
- Korean J Intern Med.
- 2008 Dec;23(4):165-169.
- doi: 10.3904/kjim.2008.23.4.165
BACKGROUND/AIMS: The prevalence of diabetes in Korea is reported to be approximately 10%, but cases of maturity-onset diabetes of the young (MODY) are rare in Korea. A diagnostic technique... -
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- Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism
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Zheng X, Ma SG, Guo ML, Qiu YL, Yang LX
- KMID: 2419100
- Yonsei Med J.
- 2017 Jul;58(4):888-890.
- doi: 10.3349/ymj.2017.58.4.888
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism... -
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- Detection of single nucleotide insertion of BCR/ABL region in imatinib-resistant human myelogenous leukemia SR-1 cells
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Park TH, Kwon HC, Kim HJ, Han JY, Jeong JS, Han H, Seo CY, Kwak JY, Park JI
- KMID: 1089462
- Exp Mol Med.
- 2005 Oct;37(5):507-511.
Imatinib mesylate is a selective Bcr/Abl kinase inhibitor and an effective anticancer agent for Bcr/Abl-positive chronic myelogenous leukemia. Most patients in chronic phase maintain durable responses; however, many in blast... -
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- Long QT Syndrome: a Korean Single Center Study
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Lee YS, Kwon BS, Kim GB, Oh SI, Bae EJ, Park SS, Noh CI
- KMID: 1777681
- J Korean Med Sci.
- 2013 Oct;28(10):1454-1460.
- doi: 10.3346/jkms.2013.28.10.1454
The long QT syndrome (LQTS) is a rare hereditary disorder in which affected individuals have a possibility of ventricular tachyarrhythmia and sudden cardiac death. We investigated 62 LQTS (QTc >... -
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- Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects
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Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW
- KMID: 2419120
- Yonsei Med J.
- 2017 May;58(3):613-618.
- doi: 10.3349/ymj.2017.58.3.613
PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries.... -
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- Impaired phosphorylation and mis-localization of Bub1 and BubR1 are responsible for the defective mitotic checkpoint function in Brca2-mutant thymic lymphomas
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Lee H
- KMID: 1093618
- Exp Mol Med.
- 2003 Oct;35(5):448-453.
Breast cancer susceptibility gene, BRCA2, is a tumor suppressor and individuals who inherit one defected copy of BRCA2 allele experience early onset breast cancer or ovarian cancer accompanied by the... -
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- Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates
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Helpman L, Zidan O, Friedman E, Kalfon S, Perri T, Ben-Baruch G, Korach J
- KMID: 2413221
- J Gynecol Oncol.
- 2017 Sep;28(5):e61.
- doi: 10.3802/jgo.2017.28.e61
OBJECTIVE: The current study investigates disease patterns and outcomes in young Israeli epithelial ovarian cancer (EOC) patients and their association with BRCA mutation status. METHODS: Consecutive EOC patients diagnosed at or... -
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- A double point mutation in PCL-gamma1 (Y509A/F510A) enhances Y783 phosphorylation and inositol phospholipid-hydrolyzing activity upon EGF stimulation
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Chung SH, Kim SK, Kim JK, Yang YR, Suh PG, Chang JS
- KMID: 946654
- Exp Mol Med.
- 2010 Mar;42(3):216-222.
- doi: 10.3858/emm.2010.42.3.023
Growth factor stimulation induces Y783 phosphorylation of phosphoinositide-specific PLC-gamma1, and the subsequent activation of this enzyme in a cellular signaling cascade. Previously, we showed that a double point mutation, Y509A/F510A,... -
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- Detection of Rare Mutations in EGFR-ARMS-PCR-Negative Lung Adenocarcinoma by Sanger Sequencing
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Liang C, Wu Z, Gan X, Liu Y, You Y, Liu C, Zhou C, Liang Y, Mo H, Chen AM, Zhang J
- KMID: 2418843
- Yonsei Med J.
- 2018 Jan;59(1):13-19.
- doi: 10.3349/ymj.2018.59.1.13
PURPOSE: This study aimed to identify potential epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer that went undetected by amplification refractory mutation system-Scorpion real-time PCR (ARMS-PCR). MATERIALS... -
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- FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1
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Park HJ, Lee W, Kim SH, Lee JH, Shin HY, Kim SM, Park KD, Lee JH, Choi YC
- KMID: 2418800
- Yonsei Med J.
- 2018 Mar;59(2):337-340.
- doi: 10.3349/ymj.2018.59.2.337
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and... -
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- Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition
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Capanni C, Sabatelli , Mattioli E, Ognibene A, Columbaro , Lattanzi G, Merlini L, Minetti C, Maraldi NM, Squarzoni
- KMID: 1119336
- Exp Mol Med.
- 2003 Dec;35(6):538-544.
Dysferlin is a plasma membrane protein of skeletal muscle whose deficiency causes Miyoshi myopathy, limb girdle muscular dystrophy 2B and distal anterior compartment myopathy. Recent studies have reported that dysferlin... -
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- Expression and characterization of a mutant recombinant blood coagulation factor VIII (rFVIII (m)).
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Oh SH, Cho SY, Jin HS, Jeong DL, Jung SG, Oh KH
- KMID: 1380231
- Exp Mol Med.
- 2002 Jul;34(3):233-238.
In an earlier study, a site directed mutant rFVIII (rFVIII(m), Arg(336) -> Gln(336)) expressed in baculovirus-insect cell (Sf9) system was found to sustain high level activity during incubation at 37... -
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- A point mutant of apolipoprotein A-I, V156K, exhibited potent anti-oxidant and anti-atherosclerotic activity in hypercholesterolemic C57BL/6 mice
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Cho KH, Park SH, Han JM, Kim HC, Chung YJ, Choi I, Kim JR
- KMID: 1094656
- Exp Mol Med.
- 2007 Apr;39(2):160-169.
In our previous study, two point mutants of apolipoprotein A-I, designated V156K and A158E, revealed peculiar characteristics in their lipid-free and lipid-bound states. In order to determine the putative therapeutic... -
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