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Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription

Sweatt JD

  • KMID: 2154240
  • Exp Mol Med.
  • 2013 May;45(5):e21.
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual...
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Overexpression of SOX9 in mouse embryonic stem cells directs the immediate chondrogenic commitment

Kim JH, Do HJ, Yang HM, Oh JH, Choi SJ, Kim DK, Cha KY, Chung HM

  • KMID: 1093460
  • Exp Mol Med.
  • 2005 Aug;37(4):261-268.
Mouse embryonic stem (mES) cells are capable of undergoing chondrogenesis in vitro. To enhance this process, the human SOX9 (hSOX9) cDNA was delivered into mES cells and the clones overexpressing...
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Phylogenetically interrelated ETS genes, ETV1, ERM and E1A-F locate on different chromosomes

Jeon IS, Shapiro DN

ETV1, ERM and E1A-F are members of the multigene ETS domain containing a class of transcription factors, first identified in the genome of the avian retrovirus E26. Based upon...
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Early growth response protein 1 acts as an activator of SOX18 promoter

Petrovic I, Kovacevic-Grujicic N, Stevanovic M

Sex-determining region Y box 18 (Sox18/SOX18) gene is an important regulator of vascular development playing a role in endothelial cell specification or differentiation, angiogenesis and atherogenesis. The aim of this...
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Septicemia Caused by Neisseria meningitidis With Decreased Ciprofloxacin Susceptibility: The First Case Report in Korea

Ahn JY, Min JK, Kim MH, Moon SY, Park KH, Lee MS, Son JS

No abstract available.
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Transcriptional induction of DLC-1 gene through Sp1 sites by histone deacetylase inhibitors in gastric cancer cells

Kim TY, Kim IS, Jong HS, Lee JW, Kim TY, Jung M, Bang YJ

We previously reported that trichostatin A (TSA), a histone deacetylase (HDAC) inhibitor, induced DLC-1 mRNA expression and accumulated acetylated histones H3 and H4 associated with the DLC-1 promoter in DLC-1...
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Insulin-dependent suppression of cholesterol 7alpha-hydroxlase is a possible link between glucose and cholesterol metabolisms

Park WH, Pak YK

Cholesterol 7alpha-hydroxylase (CYP7A1) regulates the balance between cholesterol supply and metabolism by catalyzing the rate-limiting step of bile acid biosynthesis. The transcriptional activity of CYP7A1 is tightly controlled by various...
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Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB

Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently...
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Regulatory Role of Hypoxia Inducible Factor in the Biological Behavior of Nucleus Pulposus Cells

Li H, Liang CZ, Chen QX

Intervertebral disc (IVD) degeneration is implicated as a major cause of low back pain. The alternated phenotypes, reduced cell survival, decreased metabolic activity, loss of matrix production and dystrophic mineralization...
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Three Cases of Waardenburg Syndrome Type 2 in a Korean Family

Choi JH, Moon SK, Lee KH, Lew HM, Chang YH

Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement...
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Genotype-specific methylation of HPV in cervical intraepithelial neoplasia

Hsu YW, Huang RL, Su PH, Chen YC, Wang HC, Liao CC, Lai HC

OBJECTIVE: Hypermethylation of human papillomavirus (HPV) and host genes has been reported in cervical cancer. However, the degree of methylation of different HPV types relative to the severity of the...
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HNF1 and/or HNF3 may contribute to the tissue specific expression of glucokinase gene

Cha JY, Kim HI, Im SS, Li TZ, Ahn YH

  • KMID: 1085740
  • Exp Mol Med.
  • 2001 Jun;33(2):59-63.
A possible role of hepatocyte nuclear factor 1 (HNF1) or HNF3, a predominant trans-acting factors of hepatic or pancreatic beta-cells, was examined on the tissue specific interdependent expression of glucokinase...
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The role of tonicity responsive enhancer sites in the transcriptional regulation of human hsp70-2 in response to hypertonic stress

Heo JI, Lee MS, Kim JH, Lee JS, Kim J, Park JB, Lee JY, Han JA, Kim JI

  • KMID: 1094155
  • Exp Mol Med.
  • 2006 Jun;38(3):295-301.
The inducible 70 kDa heat shock proteins (Hsp70) in mice are encoded by two almost identical genes, hsp70.1 and hsp70.3. Studies have found that only hsp70.1 is induced by hypertonic...
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p53 overexpression represses androgen-mediated induction of NKX3.1 in a prostate cancer cell line

Jiang A, Yu C, Zhang P, Chen W, Liu W, Hu X, Zhang J

  • KMID: 1115940
  • Exp Mol Med.
  • 2006 Dec;38(6):625-633.
Prostate cancer is a disease involving complicated multiple-gene alterations. Both NKX3.1 and p53 are related to prostate cancer and play crucial roles in prostate cancer progression. However, little is known...
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The mutational landscape of hepatocellular carcinoma

Lee JS

The development of hepatocellular carcinoma (HCC) is a complex process, and HCC arises from the accumulation of multiple genetic alterations leading to changes in the genomic landscape. Current advances in...
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Development of Inhibitors Targeting Hypoxia-Inducible Factor 1 and 2 for Cancer Therapy

Yu T, Tang B, Sun X

Hypoxia is frequently observed in solid tumors and also one of the major obstacles for effective cancer therapies. Cancer cells take advantage of their ability to adapt hypoxia to initiate...
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Neural cell adhesion molecule (NCAM) promotes the differentiation of hippocampal precursor cells to a neuronal lineage, especially to a glutamatergic neural cell type

Shin MH, Lee EG, Lee SH, Lee YS, Son H

  • KMID: 1121093
  • Exp Mol Med.
  • 2002 Dec;34(6):401-410.
Rat hippocampal precursor cells isolated from hippocampi of embryonic day 16.5 (E16.5) rat embryos were found to proliferate in the presence of basic fibroblast growth factor. Addition of soluble...
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Acute Myeloid Leukemia With MLL Rearrangement and CD4+/CD56+ Expression can be Misdiagnosed as Blastic Plasmacytoid Dendritic Cell Neoplasm: Two Case Reports

Lee JM, Kim IS, Lee JN, Park SH, Kim HH, Chang CL, Lee EY, Kim HR, Oh SH, Song SA

No abstract available.
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Constitutive stabilization of hypoxia-inducible factor alpha selectively promotes the self-renewal of mesenchymal progenitors and maintains mesenchymal stromal cells in an undifferentiated state

Park IH, Kim KH, Choi HK, Shim JS, Whang SY, June Hahn , Kwon OJ, Oh IH

  • KMID: 2154263
  • Exp Mol Med.
  • 2013 Sep;45(9):e44.
With the increasing use of culture-expanded mesenchymal stromal cells (MSCs) for cell therapies, factors that regulate the cellular characteristics of MSCs have been of major interest. Oxygen concentration has been...
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Inhibition of BETA2/NeuroD by Id2

Ghil SH, Jeon YJ, Suh-Kim H

  • KMID: 755209
  • Exp Mol Med.
  • 2002 Nov;34(5):367-373.
Id (Inhibitor of Differentiation) proteins belong to a family of transcriptional modulators that are characterized by a helix loop helix (HLH) region but lack the basic amino acid domain. Id...
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