- Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication
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Kim MJ, Ahn S, Jeong SH, Jang JH, Han JH, Choi JR, Cho SR
- KMID: 2373538
- Ann Lab Med.
- 2016 May;36(3):263-265.
- doi: 10.3343/alm.2016.36.3.263
No abstract available. -
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- Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia
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Choi HW, Kim HR, Baek HJ, Kook H, Cho D, Shin JH, Suh SP, Ryang DW, Shin MG
- KMID: 2363158
- Ann Lab Med.
- 2015 Jan;35(1):118-122.
- doi: 10.3343/alm.2015.35.1.118
BACKGROUND: Recurrent somatic SET-binding protein 1 (SETBP1) and splicing pathway gene mutations have recently been found in atypical chronic myeloid leukemia and other hematologic malignancies. These mutations have been comprehensively... -
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- X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family
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Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW
- KMID: 1781893
- J Korean Med Sci.
- 2006 Oct;21(5):790-793.
- doi: 10.3346/jkms.2006.21.5.790
X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations... -
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- Identification of Two Novel NPM1 Mutations in Patients with Acute Myeloid Leukemia
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Jeon Y, Seo SW, Park S, Park S, Kim SY, Ra EK, Park SS, Seong MW
- KMID: 1781299
- Ann Lab Med.
- 2013 Jan;33(1):60-64.
- doi: 10.3343/alm.2013.33.1.60
BACKGROUND: Genetic abnormalities in adult AML are caused most frequently by somatic mutations in exon 12 of the NPM1 gene, which is observed in approximately 35% of AML patients and... -
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- Real-Time PCR analysis of af4 and dek genes expression in acute promyelocytic leukemiat (15;17)patients
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Savli H, Sirma S, Nagy B, Aktan M, Dincol G, Salcioglu , Sarper N, Ozbek U
- KMID: 1097111
- Exp Mol Med.
- 2004 Jun;36(3):279-282.
Among several newly identified oncogenes, dek and af4 are attractive targets for researchers interested with leukemia. In this study quantitative Real-Time RT-PCR technique was used to define alterations in expression... -
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- Genetic and Clinical Characteristics of Korean Patients with Isolated Hypoparathyroidism: From the Korean Hypopara Registry Study
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Park SY, Eom YS, Choi B, Yi HS, Yu SH, Lee K, Jin HS, Chung YS, Jung TS, Lee S
- KMID: 1777686
- J Korean Med Sci.
- 2013 Oct;28(10):1489-1495.
- doi: 10.3346/jkms.2013.28.10.1489
Isolated hypoparathyroidism (IH) shows heterogeneous phenotypes and can be caused by defects in a variety of genes. The goal of our study was to determine the clinical features and to... -
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- Hypoxia induces Wee1 expression and attenuates hydrogen peroxide-induced endothelial damage in MS1 cells
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Hong KS, Kim HS, Kim SH, Lim DJ, Park JY, Kim SD
- KMID: 1058702
- Exp Mol Med.
- 2011 Dec;43(12):653-659.
- doi: 10.3858/emm.2011.43.12.074
In an oxygen-depleted environment, endothelial cells initiate an adaptive pattern of synthesis, which may enable them to survive hypoxic crises. Using high-resolution two-dimensional gel electrophoresis in conjunction with mass spectroscopy,... -
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- Association between Exudative Age-related Macular Degeneration and the G6721T Polymorphism of XRCC7 in Outdoor Subjects
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Saadat I, Vakili-Ghartavol R, Farvardin-Jahromi M, Saadat M
- KMID: 1499679
- Korean J Ophthalmol.
- 2012 Dec;26(6):423-427.
- doi: 10.3341/kjo.2012.26.6.423
PURPOSE: To investigate whether the G6721T polymorphism (rs.7003908) of the non-homologous end-joining DNA repair XRCC7 gene contributes to the development of exudative age-related macular degeneration (ARMD). METHODS: The present case-control study... -
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- Certain Polymorphisms in SP110 Gene Confer Susceptibility to Tuberculosis: A Comprehensive Review and Updated Meta-Analysis
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Zhang S, Wang XB, Han YD, Wang C, Zhou Y, Zheng F
- KMID: 2374203
- Yonsei Med J.
- 2017 Jan;58(1):165-173.
- doi: 10.3349/ymj.2017.58.1.165
PURPOSE: Numerous studies have assessed the association of SP110 gene variants with tuberculosis (TB), but the results were inconsistent. Through a comprehensive review and meta-analysis, our study aimed to clarify... -
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- A Case of Therapy-related Acute Lymphoblastic Leukemia with t(11;19)(q23;p13.3) and MLL/MLLT1 Gene Rearrangement
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Yoo BJ, Nam MH, Sung HJ, Lim CS, Lee CK, Cho YJ, Lee KN, Yoon SY
- KMID: 1096654
- Korean J Lab Med.
- 2011 Jan;31(1):13-17.
- doi: 10.3343/kjlm.2011.31.1.13
Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11q23 abnormalities are the most common karyotypic alterations in t-ALL. The t(11;19)(q23;p13)... -
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- Correlation of NPM1 Type A Mutation Burden With Clinical Status and Outcomes in Acute Myeloid Leukemia Patients With Mutated NPM1 Type A
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Jo SY, Park SH, Kim IS, Yi J, Kim HH, Chang CL, Lee EY, Cho YU, Jang S, Park CJ, Chi HS
- KMID: 2373568
- Ann Lab Med.
- 2016 Sep;36(5):399-404.
- doi: 10.3343/alm.2016.36.5.399
BACKGROUND: Nucleophosmin gene (NPM1) mutation may be a good molecular marker for assessing the clinical status and predicting the outcomes in AML patients. We evaluated the applicability of NPM1 type... -
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- Three-way Translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a Pediatric Case of Acute Myeloid Leukemia
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Jun KR, Lee JN, Park JA, Kim HR, Shin JH, Oh SH, Lee JY, Song SA
- KMID: 1094354
- Korean J Lab Med.
- 2011 Apr;31(2):127-129.
- doi: 10.3343/kjlm.2011.31.2.127
The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is... -
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- Introduction of the CIITA gene into tumor cells produces exosomes with enhanced anti-tumor effects
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Lee YS, Kim SH, Cho JA, Kim CW
- KMID: 1009967
- Exp Mol Med.
- 2011 May;43(5):281-290.
- doi: 10.3858/emm.2011.43.5.029
Exosomes are small membrane vesicles secreted from various types of cells. Tumor-derived exosomes contain MHC class I molecules and tumor-specific antigens, receiving attention as a potential cancer vaccine. For induction... -
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