- First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome
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Yu N, Shin S, Lee KA
- KMID: 2363196
- Ann Lab Med.
- 2015 Mar;35(2):275-278.
- doi: 10.3343/alm.2015.35.2.275
No abstract available. -
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- A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1
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Lee JH, Park C, Kim SH, Shin MG
- KMID: 2373559
- Ann Lab Med.
- 2016 Jul;36(4):371-374.
- doi: 10.3343/alm.2016.36.4.371
No abstract available. -
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- Genetic controls of Th17 cell differentiation and plasticity
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Dong C
- KMID: 991617
- Exp Mol Med.
- 2011 Jan;43(1):1-6.
- doi: 10.3858/emm.2011.43.1.007
CD4+ T lymphocytes play a major role in regulation of adaptive immunity. Upon activation, naive T cells differentiate into different functional subsets. In addition to the classical Th1 and Th2... -
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- A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
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Yang HJ, Lee YK, Joo CK, Moon JI, Mok JW, Park MH
- KMID: 2363769
- Korean J Ophthalmol.
- 2015 Aug;29(4):249-255.
- doi: 10.3341/kjo.2015.29.4.249
PURPOSE: To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS: A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family... -
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- Regulation of glucose metabolism-related genes and VEGF by HIF-1alpha and HIF-1beta, but not HIF-2alpha, in gastric cancer
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Song IS, Wang AG, Yoon SY, Kim JM, Kim JH, Lee DS, Kim NS
- KMID: 756286
- Exp Mol Med.
- 2009 Jan;41(1):51-58.
- doi: 10.3858/emm.2009.41.1.007
Hypoxia-inducible factors (HIFs) are transcription factors that activate the transcription of target genes involved in crucial aspects of cancer development. This study investigated the expression of HIFs and their contribution... -
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- Menin represses JunD transcriptional activity in protein kinase Ctheta-mediated Nur77 expression
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Kim H, Lee JE, Kim BY, Cho EJ, Kim ST, Youn HD
- KMID: 1089456
- Exp Mol Med.
- 2005 Oct;37(5):466-475.
TCR signaling leading to thymocyte apoptosis is mediated through the expression of the Nur77 family of orphan nuclear receptors. It has been shown that the Nur77 promoter is activated by... -
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- miR-139 modulates MCPIP1/IL-6 expression and induces apoptosis in human OA chondrocytes
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Makki MS, Haqqi TM
- KMID: 2160620
- Exp Mol Med.
- 2015 Oct;47(10):e189.
- doi: 10.1038/emm.2015.66
IL-6 is an inflammatory cytokine and its overexpression plays an important role in osteoarthritis (OA) pathogenesis. Expression of IL-6 is regulated post-transcriptionally by MCPIP1. The 3' untranslated region (UTR) of... -
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- Transcriptional regulation of Zic3 by heterodimeric AP-1(c-Jun/c-Fos) during Xenopus development
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Lee SY, Lee HS, Moon JS, Kim JI, Park JB, Lee JY, Park MJ, Kim J
- KMID: 1123768
- Exp Mol Med.
- 2004 Oct;36(5):468-475.
The heterodimeric c-Jun/c-Fos, an activator protein-1 (AP-1) has been implicated in mesoderm induction (Dong et al., 1996; Kim et al., 1998) whereas the homodimer of c-Jun was reported to be... -
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- Identification of abnormal gene expression in bovine transgenic somatic cell nuclear transfer embryos
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Cho J, Kang S, Lee BC
- KMID: 1784643
- J Vet Sci.
- 2014 Jun;15(2):225-231.
- doi: 10.4142/jvs.2014.15.2.225
This study was conducted to investigate the expression of three genes related to early embryonic development in bovine transgenic cloned embryos. To accomplish this, development of bovine transgenic somatic cell... -
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- Identification of amyloid beta-peptide responsive genes by cDNA microarray technology: Involvement of RTP801 in amyloid beta-peptide toxicity
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Kim JR, Lee SR, Chung HJ, Kim S, Baek SH, Kim JH, Kim YS
- KMID: 1093613
- Exp Mol Med.
- 2003 Oct;35(5):403-411.
Amyloid beta-peptide (Abeta), a causative molecule in the pathogenesis of Alzheimer's disease and the main component of senile plaques, is known to be neurotoxic in vitro and in vivo. The... -
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- Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea
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Choi JH, Jung CW, Kang E, Kim YM, Heo SH, Lee BH, Kim GH, Yoo HW
- KMID: 2419109
- Yonsei Med J.
- 2017 May;58(3):527-532.
- doi: 10.3349/ymj.2017.58.3.527
PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low... -
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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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- NF-kappaB is involved in the TNF-alpha induced inhibition of the differentiation of 3T3-L1 cells by reducing PPARg expression
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Chae GN, Kwak SJ
- KMID: 1093616
- Exp Mol Med.
- 2003 Oct;35(5):431-437.
TNF-alpha, a trimeric cytokine, was known to inhibit differention of preadipocytes to adipocytes. In the present study, we investigated signal mediators working downstream of TNF-alpha using murine 3T3-L1 cells. TNF-alpha... -
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- Identification of a putative transactivation domain in human Nanog
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Oh JH, Do HJ, Yang HM, Moon SY, Cha KY, Chung HM, Kim JH
- KMID: 1056238
- Exp Mol Med.
- 2005 Jun;37(3):250-254.
Nanog is a newly identified divergent homeodomain protein that directs the infinite propagation and sustains the pluripotency of embryonic stem cells. It has been reported that murine Nanog has two... -
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- Spatio-temporal expression patterns of Runx2 isoforms in early skeletogenesis
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Choi KY, Lee SW, Park MH, Bae YC, Shin HI, Nam SH, Kim YJ, Kim HJ, Ryoo HM
- KMID: 1121096
- Exp Mol Med.
- 2002 Dec;34(6):426-433.
Skeletogenesis occurs through either intramembranous or endochondral ossification. In addition, some parts of the skeletal components maintain their cartilaginous characteristics throughout life without mineralization. Runx2 is known to be... -
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- A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
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Ma Y, Jang MA, Yoo HS, Ahn SY, Sung SI, Chang YS, Ki CS, Park WS
- KMID: 2419131
- Yonsei Med J.
- 2017 May;58(3):672-675.
- doi: 10.3349/ymj.2017.58.3.672
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by... -
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- A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection
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Kim GB, Kwon BS, Bae EJ, Noh CI, Seong MW, Park SS
- KMID: 1777570
- J Korean Med Sci.
- 2013 May;28(5):784-787.
- doi: 10.3346/jkms.2013.28.5.784
A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally... -
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- A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate
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Kwon KA, Park SE, Byun SY, Kim SY, Hwang SH
- KMID: 1714051
- J Korean Med Sci.
- 2010 Aug;25(8):1237-1240.
- doi: 10.3346/jkms.2010.25.8.1237
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been... -
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- Identification of DNA methylation associated gene signatures in endometrial cancer via integrated analysis of DNA methylation and gene expression systematically
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Men C, Chai H, Song X, Li Y, Du H, Ren Q
- KMID: 2413209
- J Gynecol Oncol.
- 2017 Nov;28(6):e83.
- doi: 10.3802/jgo.2017.28.e83
OBJECTIVE: Endometrial cancer (EC) is a common gynecologic cancer worldwide. However, the pathogenesis of EC has not been epigenetically elucidated. Here, this study aims to describe the DNA methylation profile... -
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- Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant
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Lee CW, Lee JH, Jung EY, Choi SO, Kim CS, Lee SL, Kim DK
- KMID: 1782126
- J Korean Med Sci.
- 2011 Feb;26(2):312-315.
- doi: 10.3346/jkms.2011.26.2.312
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep... -
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