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Down syndrome critical region gene 3

The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: GAPDH, Vps26, CAN, TTC3, POLYMERASE
Papers on DSCR3
Quantification and Application of Potential Epigenetic Markers in Maternal Plasma of Pregnancies with Hypertensive Disorders.
Ryu et al., Seoul, South Korea. In Int J Mol Sci, 2014
We compared the concentrations of DSCR3, RASSF1A, and SRY as cell-free fetal DNA markers in 188 normal pregnancies, 16 pregnancies with early-onset preeclampsia (EO-PE), 47 pregnancies with late-onset preeclampsia (LO-PE), and 29 pregnancies with gestational hypertension (GH).
Molecular detection of trisomy 21 by bicolor competitive fluorescent PCR.
Fan et al., Chengdu, China. In J Clin Lab Anal, 2013
RESULTS: The DSCR3/USC2 ratio of peripheral blood in trisomy 21 syndrome patients to normal subjects was 1.41∼1.74 to 0.93∼1.15,
True arrestins and arrestin-fold proteins: a structure-based appraisal.
Klein et al., Grenoble, France. In Prog Mol Biol Transl Sci, 2012
In human, it includes the well-characterized visual and β-arrestins, the arrestin domain-containing proteins (ARRDCs), isoforms of the retromer subunit VPS26, and DSCR3, a protein involved in Down syndrome.
Evolutionary reconstruction of the retromer complex and its function in Trypanosoma brucei.
Field et al., Cambridge, United Kingdom. In J Cell Sci, 2011
Surprisingly, we found DSCR3, a Vps26 paralogue in humans associated with Down's syndrome, in at least four eukaryotic supergroups, implying a more ancient origin than previously suspected.
[Clinical application of SYBR Green I real-time fluorescence quantitative PCR for diagnosis of common chromosome aneuploidy].
Zeng et al., Guangzhou, China. In Nan Fang Yi Ke Da Xue Xue Bao, 2010
METHODS: ABCC4 gene on chromosome 13, TYMS gene on chromosome 18, DSCR3 gene on chromosome 21, HPRT2 gene on chromosome X, and SRY gene on Y chromosome were used as the target genes, with GAPDH gene on chromosome 12 as the control gene.
Sensitivity of DCSR3/GAPDH ratio using quantitative real-time PCR in the rapid prenatal diagnosis for down syndrome.
Gaber et al., Cairo, Egypt. In Fetal Diagn Ther, 2008
METHODS: We used a quantitative real-time PCR technique to measure the gene dosage of the Down syndrome critical region (DSCR3) by calculating the ratio of DSCR3 to GAPDH using standard curves.
[Rapid diagnosis of Down's syndrome by multiplex real-time fluorescence relative quantitative PCR].
Liu et al., Beijing, China. In Yi Chuan, 2007
The fragment from Down's syndrome critical region gene 3 (DSCR3) on chromosome 21 was used as the target gene, and the glyceraldehyde-3-phosphate dehydrogenase (GAPDH) gene on chromosome 12 was used as the control gene.
Dysregulation of growth factor receptor-bound protein 2 and fascin in hippocampus of mice polytransgenic for chromosome 21 structures.
Lubec et al., Vienna, Austria. In Hippocampus, 2006
Nonchimeric polytransgenic 152F7 mice encompassing four human chromosome 21 genes (DSCR3, DSCR5, TTC3, and DYRK1A) within the Down syndrome critical region present with learning and memory impairment.
Identification of a novel putative mitogen-activated kinase cascade on human chromosome 21 by computational approaches.
Tramontano et al., Roma, Italy. In Bioinformatics, 2006
More specifically, we propose that they are members of a novel mitogen-activated protein kinase pathway with DYRK1A, SNF1LK and RIPK4 gene products being elements of the kinase cascade and the DSCR3 acting as structural scaffold for their interaction.
Protein dysregulation in mouse hippocampus polytransgenic for chromosome 21 structures in the Down Syndrome Critical Region.
Lubec et al., Vienna, Austria. In J Proteome Res, 2006
Mice polytransgenic for chromosome 21 genes DSCR3, 5, 6, 9, and TTC3 within the Down Syndrome Critical Region-1 represent an animal model for Down Syndrome (DS).
Quantitative real-time PCR technique for rapid prenatal diagnosis of Down syndrome.
Cui et al., Nanjing, China. In Prenat Diagn, 2004
METHODS: High throughput real-time PCR technique was used to measure the DSCR3 gene dosage of genomic DNAs from uncultured amniocytes of fetuses, lymphocytes of trisomy 21 syndrome patients, and normal people, compared to conventional cytogenetic karyotype analysis.
Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2.
Sakaki et al., Tokyo, Japan. In J Biochem, 1997
The gene, designated as DCRA (Down syndrome Critical Region gene A), consists of eight exons of 3,252 bp in total and encodes a large open reading frame of 297 amino acid residues.
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