- A case of ataxia telangiectasia
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Kang DW, Ahn SS, Jeon BS
- KMID: 2016258
- J Korean Neurol Assoc.
- 1997 Aug;15(4):895-899.
Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar degeneration, cancer predisposition, immune defects, radiosensitivity and genetic instability. Ataxia telangiectasia is rare and has not been reported in... -
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- A Case of Familial Telangiectasia of Face
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Ahn SY, Suh SB
- KMID: 1664743
- Korean J Dermatol.
- 1977 Dec;15(4):459-463.
A case of familial telangiectasia of face resembling lupus erythematosus but no having other involved symptoms, except ichthyosis vulgaris of lower legs in all 4 sisters, appeared on 8 months... -
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- A Case of Hodgkin Lymphoma Developed in an Ataxia-telangiectasia Patient
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Lim JY, Jeon M, Kim HS, Han JW, Lyu CJ, Hahn SM
- KMID: 2358377
- Clin Pediatr Hematol Oncol.
- 2016 Oct;23(2):184-187.
- doi: 10.15264/cpho.2016.23.2.184
Ataxia-telangiectasia (AT) is characterized by cerebellar ataxia, progressive immunodeficiency, radiation sensitivity, telangiectasia, and predisposition to malignancy. AT patients have a 100-fold increased risk for the development of lymphoid malignancies. It... -
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- Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia
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Huh HJ, Cho KH, Lee JE, Kwon MJ, Ki CS, Lee PH
- KMID: 1781331
- Ann Lab Med.
- 2013 May;33(3):217-220.
- doi: 10.3343/alm.2013.33.3.217
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although... -
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- Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
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Jeong H, Huh HJ, Youn J, Kim JS, Cho JW, Ki CS
- KMID: 1781368
- Ann Lab Med.
- 2014 Jan;34(1):80-84.
- doi: 10.3343/alm.2014.34.1.80
No abstract available. -
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- A Case of progressive elevation of serum gamma-GTP level in ataxia-telangiectasia
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Song MH, Kim EJ, Sung TJ, Shin SH, Lee KH, Kim HD
- KMID: 2329594
- J Korean Child Neurol Soc.
- 2006 Nov;14(2):363-368.
Ataxia-telangiectasia is an autosomal recessive disorders characterized by cerebellar ataxis, oculocutaneous telangiectasia and frequent respiratory infections due to immunoincompetence. Ataxia usually appear by age of 2 years with most patients... -
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- A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
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Tariq H, Imran R, Naz S
- KMID: 2424178
- J Clin Neurol.
- 2018 Oct;14(4):498-504.
- doi: 10.3988/jcn.2018.14.4.498
BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in... -
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- Chromosomal Assay after In-vitro Irradiation of Lymphocytes in Ataxia Telangiectasia
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Kim JS, Lee JY, Park SK, Kim YI, Song MY, Choi BO
- KMID: 2342929
- J Korean Neurol Assoc.
- 2001 Sep;19(5):509-513.
BACKGROUND: Hypersensitivity to both cell-killing and chromosome-damaging effects of ionizing radiation is a consistent feature of cells from individuals with ataxia-telangiectasia (AT). This radiobiological behavior of AT cells is a... -
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- Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
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Jang MJ, Lee CG, Kim HJ
- KMID: 2435952
- J Genet Med.
- 2018 Dec;15(2):110-114.
- doi: 10.5734/JGM.2018.15.2.110
Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM... -
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- Adaptive Response to lonizing Radiation Induced by Low Doses of Gamma Rays in Human Lymphoblastoid Cell Lines
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Seong J, Kim GE, Suh CO
- KMID: 2196826
- J Korean Soc Ther Radiol.
- 1994 Feb;12(1):1-8.
When cells are exposed to low doses of a mutagenic or clastogenic agents, they often become less sensitive to the effects of a higher does administered subsequently. Such adaptive responses... -
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- Survival, Differentiation and ATM Phenotype of PC-12 Cells by Down - regulation of AT Gene
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Yi HK, Chang SH, Lee DY, Kim JS, Hwang PH
- KMID: 2059305
- J Korean Cancer Assoc.
- 1999 Oct;31(5):1065-1073.
PURPOSE: Ataxia Telangiectasia (AT) is a hereditary multi-systemic disease resulting from mutations of AT gene and is characterized by progressive neurodegeneration, cancer, immune system defects, and hypersensitivity to ionizing radiation.... -
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- Ataxia-Telangiectasia-Mutated Protein Expression as a Prognostic Marker in Adenoid Cystic Carcinoma of the Salivary Glands
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Bazarsad S, Kim JY, Zhang X, Kim KY, Lee DY, Ryu MH, Kim J
- KMID: 2415530
- Yonsei Med J.
- 2018 Aug;59(6):717-726.
- doi: 10.3349/ymj.2018.59.6.717
PURPOSE: Adenoid cystic carcinoma (ACC) is a high-grade malignant tumor of the salivary glands, clinically characterized by multiple recurrences and late distant metastasis. Biological markers for assessing the prognosis of... -
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- Functional Link between DNA Damage Responses and Transcriptional Regulation by ATM in Response to a Histone Deacetylase Inhibitor TSA
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Lee JS
- KMID: 1522934
- Cancer Res Treat.
- 2007 Sep;39(3):116-124.
PURPOSE: Mutations in the ATM (ataxia-telangiectasia mutated) gene, which encodes a 370 kd protein with a kinase catalytic domain, predisposes people to cancers, and these mutations are also linked to... -
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- Induced Apoptosis of Cancer Cells by Antisense ATM Gene Therapy
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Yi HK, Chang SH, Lee DY, Kim JS, Hwang RH
- KMID: 2175105
- J Korean Cancer Assoc.
- 2000 Apr;32(2):339-349.
PURPOSE: Recently cloned AT gene mutated (ATM) in ataxia telangiectasia is involved in DNA damage response at different cell cycle checkpoints and also appears to have a wide role in signal transduction.... -
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- Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8
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De Souza M, Vera-Lozada G, Othman M, Marques-Salles TJ, Pinto LW, da Rocha M, Rouxinol S, Liehr T, Ribeiro RC, Hassan R, Silva ML
- KMID: 2397605
- Ann Lab Med.
- 2018 Jan;38(1):63-66.
- doi: 10.3343/alm.2018.38.1.63
No abstract available. -
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- Effect of Protein Kinase C Inhibitor (PKCI) on Radiation Sensitivity and c-fos Transcription Activity
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Choi EK, Chang H, Rhee YH, Park KK
- KMID: 1557157
- J Korean Soc Ther Radiol Oncol.
- 1999 Dec;17(4):299-306.
PURPOSE: The human genetic disorder ataxia-telangiectasia (AT) is a multisystem disease characterized by extreme radiosensitivity. The recent identification of the gene mutated in AT, ATM, and the demonstration that it... -
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- Therapeutic Targeting of the DNA Damage Response Using an ATR Inhibitor in Biliary Tract Cancer
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Nam AR, Jin MH, Park JE, Bang JH, Oh DY, Bang YJ
- KMID: 2454308
- Cancer Res Treat.
- 2019 Jul;51(3):1167-1179.
- doi: 10.4143/crt.2018.526
PURPOSE: The DNA damage response (DDR) is a multi-complex network of signaling pathways involved in DNA damage repair, cell cycle checkpoints, and apoptosis. In the case of biliary tract cancer... -
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- Familial Pancreatic Cancer and the Future of Directed Screening
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Welinsky S, Lucas AL
- KMID: 2395380
- Gut Liver.
- 2017 Nov;11(6):761-770.
- doi: 10.5009/gnl16414
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage... -
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- Activation of ATM-dependent DNA Damage Signal Pathway by a Histone Deacetylase Inhibitor, Trichostatin A
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Lee JS
- KMID: 1522935
- Cancer Res Treat.
- 2007 Sep;39(3):125-130.
PURPOSE: Ataxia-telangiectasia mutated (ATM) kinase regulates diverse cellular DNA damage responses, including genome surveillance, cell growth, and gene expression. While the role of histone acetylation/deacetylation in gene expression is well... -
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- Increase of proliferation and DNA damage in mouse hepatocytes treated with diethylnitrosamine
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Lee WK, Kang JS
- KMID: 2394588
- J Biomed Transl Res.
- 2017 Jun;18(2):56-59.
- doi: 10.12729/jbtr.2017.18.2.056
As diethylnitrosamine (DEN) effect on cell proliferation, DNA damage and stem cell marker(s) expression have been largely unknown in mouse normal hepatocytes (AML-12 cells) cultured over a short-term period, this... -
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