- A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
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Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW
- KMID: 1791956
- Ann Lab Med.
- 2014 Sep;34(5):390-394.
- doi: 10.3343/alm.2014.34.5.390
KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11... -
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- Circadian regulation of low density lipoprotein receptor promoter activity by CLOCK/BMAL1, Hes1 and Hes6
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Lee YJ, Han DH, Pak YK, Cho S
- KMID: 1401756
- Exp Mol Med.
- 2012 Nov;44(11):642-652.
Low density lipoprotein receptor (LDLR) plays an important role in the cholesterol homeostasis. We examined the possible circadian regulation of LDLR and mechanism(s) underlying it. In mice, blood glucose and... -
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- Prognostic Significance of TEL/AML1 Rearrangement and Its Additional Genetic Changes in Korean Childhood Precursor B-Acute Lymphoblastic Leukemia
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Chung HY, Kim KH, Jun KR, Jang S, Park CJ, Chi HS, Im HJ, Seo JJ, Seo EJ
- KMID: 1096811
- Korean J Lab Med.
- 2010 Feb;30(1):1-8.
- doi: 10.3343/kjlm.2010.30.1.1
BACKGROUND: TEL (ETV6)/AML1 (RUNX1) rearrangement is observed in approximately 20-25% of childhood precursor B-ALL and is associated with a favorable outcome. Additional genetic changes, associated with TEL/AML1, are frequently found.... -
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