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Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome

Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS

CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear...
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Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing

Zhao Q, Yang J, Li L, Cao D, Yu M, Shen K, the BGI Group

OBJECTIVE: To define genetic profiling of homologous recombination (HR) deficiency in Chinese ovarian cancer patients. METHODS: we have applied next-generation sequencing to detect deleterious mutations through all exons in 31 core...
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Association of DNA-dependent protein kinase with hypoxia induciblefactor-1 and its implication inresistance to anticancer drugs in hypoxic tum or cells

Um JH, Kang CD, Bae JH, Shin GG, Kim DW, Kim DW, Chung BS, Kim SH

  • KMID: 1097105
  • Exp Mol Med.
  • 2004 Jun;36(3):233-242.
Tumor hypoxia contributes to the progression of a malignant phenotype and resistance to ionizing radiation and anticancer drug therapy. Many of these effects in hypoxic tumor cells are mediated by...
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Immunohistochemical Analysis of ATRX, IDH1 and p53 in Glioblastoma and Their Correlations with Patient Survival

Chaurasia , Park SH, Seo JW, Park CK

Glioblastoma (GBM) can be classified into molecular subgroups, on the basis of biomarker expression. Here, we classified our cohort of 163 adult GBMs into molecular subgroups according to the expression...
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Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer

Lee SA, Lee KM, Park WY, Kim B, Nam J, Yoo KY, Noh DY, Ahn SH, Hirvonen A, Kang D

  • KMID: 755746
  • Exp Mol Med.
  • 2005 Apr;37(2):86-90.
To evaluate the relationship of genetic polymorphisms of ERCC2 and ERCC4 genes, both involved in nucleotide excision repair (NER), and the risk of breast cancer, a hospital-based case-control study was...
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Increased lysine N-methylation of a 23-kDa protein during hepatic regeneration

Choi YB, Ko MH, Shin CH, Kim KS, Hong KM, Paik MK, Park DE

  • KMID: 1056226
  • Exp Mol Med.
  • 2005 Jun;37(3):155-160.
The methylation of a 23-kDa nuclear protein increased after partial hepatectomy and methylation returned to basal levels after the initial stage of regeneration. The methylating enzyme was partially purified from...
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