- Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
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Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS
- KMID: 2363163
- Ann Lab Med.
- 2015 Jan;35(1):141-145.
- doi: 10.3343/alm.2015.35.1.141
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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- Chromosomal Losses are Associated with Hypomethylation of the Gene-Control Regions in the Stomach with a Low Number of Active Genes
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Jung YC, Hong SJ, Kim YH, Kim SJ, Kang SJ, Choi SW, Rhyu MG
- KMID: 1107535
- J Korean Med Sci.
- 2008 Dec;23(6):1068-1089.
- doi: 10.3346/jkms.2008.23.6.1068
Transitional-CpG methylation between unmethylated promoters and nearby methylated retroelements plays a role in the establishment of tissue-specific transcription. This study examined whether chromosomal losses reducing the active genes in cancers... -
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- Tissue Plasminogen Activator and Plasminogen Activator Inhibitor Type 1 Gene Polymorphism in Patients with Gastric Ulcer Complicated with Bleeding
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Kim HS, Hwang KY, Chung IK, Park SH, Lee MH, Kim SJ, Hong SY
- KMID: 1099794
- J Korean Med Sci.
- 2003 Feb;18(1):58-64.
- doi: 10.3346/jkms.2003.18.1.58
Tissue plasminogen activator (t-PA) and plasminogen activator inhibitor type 1 (PAI-1) may be involved in the pathogenesis of peptic ulcers through suppression of fibrinolysis. This study was designed to investigate... -
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