- Weakening of the repressive YY-1 site on the thrombospondin-1 promoter via c-Jun/YY-1 interaction
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Kang JH, Chang SY, Yeom DH, Kim SA, Um SH, Hong KJ
- KMID: 1094074
- Exp Mol Med.
- 2004 Aug;36(4):300-310.
Thrombospondin-1 (TSP-1) level is tightly regulated at the transcriptional level. To determine the detailed molecular mechanisms of TSP-1 expression, nine serial 5'-deletion constructs of the human genomic tsp-1 promoter (nucleotides... -
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- De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases
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Mukherjee , Chaturvedi LS, Srivastava S, Mittal RD, Mittal B
- KMID: 1097259
- Exp Mol Med.
- 2003 Apr;35(2):113-117.
Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polymorphic... -
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- Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
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Cali F, Ruggeri G, Vinci M, Meli C, Carducci C, Leuzzi V, Pozzessere S, Schinocca , Ragalmuto , Chiavetta , Micciche S, Romano V
- KMID: 983980
- Exp Mol Med.
- 2010 Feb;42(2):81-86.
- doi: 10.3858/emm.2010.42.2.009
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning... -
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- Insulin-dependent suppression of cholesterol 7alpha-hydroxlase is a possible link between glucose and cholesterol metabolisms
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Park WH, Pak YK
- KMID: 1123369
- Exp Mol Med.
- 2011 Oct;43(10):571-579.
- doi: 10.3858/emm.2011.43.10.064
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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