- 1. Down syndrome
- [A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features. ( NCI )] (UMLS (CSP) C0013080) =Congenital Abnormality; Disease or Syndrome ;
=Abnormalities, Multiple;
Chromosomal anomalies;
Arrieration mentale;
syndrome;
Chromosomal Disorders, Nervous System;
| - 4. Down-Regulator of Transcription 1, TBP-Binding (Negative Cofactor 2) Gene
- [This gene is involved in repression of transcription. ( NCI )] (UMLS (NCI) C1333247) DR1;
DR1 Gene;
=Gene or Genome ;
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- 2. Down-Regulated in Rhabdomyosarcoma LIM Protein
- [Members of the four-and-a-half-LIM domain (FHL) protein family, which are expressed in a tissue- and stage-specific manner, have been reported to function as transcriptional coactivators. Expression of DRAL (FHL2) results in enhancement of NF-kappaB activation. DRAL (FHL2) is a p53-responsive gene implicated in induction of apoptosis. DRAL may participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappaB transcription factor. (from J Biol Chem 2002;277:37045-53 and FEBS Lett 2002;521(1-3):165-9) ( NCI )] (UMLS (NCI) C1333635) FHL2;
Four and a Half LIM Domains 2;
Four and a Half LIM Domains 2 Protein;
=Amino Acid, Peptide, or Protein; Biologically Active Substance | - 5. Downward Ocular Deviation
- [Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye. ( NCI )] (UMLS (NCI) C0152208) =Finding ;
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- 3. Down-Regulator of Transcription 1
- [Encoded by human DR1 Gene, TATA-Binding Protein-Associated Phosphoprotein represses both basal and activated levels of transcription. DR1 phosphorylation affects its interaction with TBP. The DR1 protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region and represses transcription with DRAP1 by inhibiting pre-initiation complex formation through interaction with TFIID and DNA. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. (NCI) ( NCI )] (UMLS (NCI) C0170954) =Amino Acid, Peptide, or Protein; Biologically Active Substance ;
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