Down Syndrome Critical Region

Networked: 116 relevant articles (0 outcomes, 6 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Down Syndrome: 7927
        Down Syndrome Critical Region: 116
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Down Syndrome: 7927
      - Down Syndrome Critical Region: 116
  - Chromosome Disorders: 136
    - Down Syndrome: 7927
      - Down Syndrome Critical Region: 116
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Down Syndrome: 7927
      - Down Syndrome Critical Region: 116

Related Diseases

1.	Down Syndrome (Down's Syndrome)
2.	Neoplasms (Cancer)
3.	Alzheimer Disease (Alzheimer's Disease)
4.	Neoplasm Metastasis (Metastasis)
5.	Liver Neoplasms (Liver Cancer)

Experts

1.	Minami, Takashi: 8 articles (01/2021 - 11/2004)
2.	Chung, Kwang Chul: 6 articles (01/2014 - 11/2008)
3.	Seo, Su Ryeon: 5 articles (01/2022 - 11/2008)
4.	Chang, Karen T: 5 articles (11/2021 - 01/2013)
5.	Kodama, Tatsuhiko: 4 articles (01/2021 - 11/2004)
6.	Aird, William C: 4 articles (05/2013 - 11/2004)
7.	Kim, Seon Sook: 3 articles (01/2022 - 02/2012)
8.	Min, Kyung-Tai: 3 articles (11/2021 - 01/2016)
9.	Ryeom, Sandra: 3 articles (01/2021 - 08/2009)
10.	Strippoli, Pierluigi: 3 articles (01/2021 - 05/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Down Syndrome Critical Region:

1.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "Increased expression of downstream targets in these pathways, ANGPT2 (angiopoietin-2) and DSCR (Down syndrome critical region protein) 1.4 were confirmed by quantitative PCR and immunostaining of human CM tissue sections. " 05/08/2021 - "DSCR4 (Down syndrome critical region 4) is a de novo-originated protein-coding gene present only in human chromosome 21 and its homologous chromosomes in apes. " 01/01/2019 - "Here, we show that Down syndrome critical region 1 (DSCR1) protein plays a key role in adult hippocampal neurogenesis by modulating two epigenetic factors: TET1 and miR-124. " 11/01/2016 - "Here, we focussed on the neurodevelopmental functions for EURL (also known as C21ORF91, Refseq Gene ID:54149), a protein-coding gene at the centromeric boundary of the Down Syndrome Critical Region (DSCR) of HSA21. " 01/01/2014 - "In this report we show that high levels of the TTC3 protein, encoded by one of the genes of the Down Syndrome Critical Region (DCR), prevent neurite extension and disrupt Golgi compactness in differentiating primary neurons. "
2.	CalcineurinIBA 08/31/2020 - "The regulator of calcineurin (RCAN) was first reported as a novel gene called DSCR1, encoded in a region termed the Down syndrome critical region (DSCR) of human chromosome 21. " 08/31/2020 - "Regulator of Calcineurin (RCAN): Beyond Down Syndrome Critical Region." 01/01/2019 - "Here, we examined the physiological role of Down syndrome critical region 1-4 (DSCR1-4), an endogenous calcineurin signaling inhibitor in the liver that mediates metabolic adaptation to fasting. " 01/01/2017 - "Regulator of calcineurin 1 (RCAN1) is located on the Down syndrome critical region (DSCR) locus in human chromosome 21. " 01/01/2014 - "Regulator of calcineurin 1 (RCAN1; also referred as DSCR1 or MCIP1) is located in close proximity to a Down syndrome critical region of human chromosome 21. "
3.	Complementary DNA (cDNA)IBA 06/01/1998 - "We and others recently isolated a human TPRD gene, possessing a motif of the tetratricopeptide repeat (TPR), from the Down syndrome-critical region (DCR) of chromosome 21q22.2. In this study, we isolated a mouse homologue of TPRD cDNA, mtprd, and examined its expression profile in mouse embryos. " 06/30/2002 - "Using this sequence we identified two novel genes, designated DSCR9 and DSCR10, in the so-called Down Syndrome Critical Region (DSCR) by computational gene prediction and subsequent cDNA cloning. " 12/01/1999 - "We previously isolated human MNB/DYRK1A cDNA from "the Down syndrome critical region" of human chromosome 21 (Shindoh et al., 1996, Biochem. " 10/01/1997 - "We identified a novel gene in the so-called Down syndrome critical region by means of computer-aided exon prediction and subsequent cDNA cloning. " 10/01/1996 - "We identified and cloned a novel 9,078-bp cDNA, designated TPRDI, from the Down syndrome-critical region by exon trapping. "
4.	Amyloid (Amyloid Fibrils)IBA 08/12/2015 - "This study examines Nebula/Down syndrome critical region 1 (DSCR1) and amyloid-precursor protein (APP), proteins upregulated in both DS and AD, in regulating memory. " 08/12/2015 - "This study examines the functional interactions between Down syndrome critical region 1 (DSCR1) and amyloid-precursor protein (APP), proteins upregulated in both DS and AD, in regulating memory. " 01/01/2019 - "Her karyotype [46XX, inv(9)(p12q13), i(21)(q10)] included triplication of the gene for amyloid precursor protein and the Down syndrome critical region. " 09/01/2004 - "Mapping to the Down syndrome critical region (chromosome 21) and identified as a homologue of BACE1, BACE2 also cleaves amyloid precursor protein at the beta-site. " 01/01/2016 - "Human chromosome 21 encodes known anti-angiogenic factors, including collagen18a1 (endostatin, ES), ß-amyloid peptide (BAP) and Down Syndrome Critical Region 1 (DSCR-1). "
5.	Long Noncoding RNAIBA 01/01/2018 - "We identified the regulation function of DSCR9, a lncRNA transcribed from the Down syndrome critical region (DSCR) of chromosome 21, by analyzing its co-expression genes from over 1700 sets and nearly 60,000 public Affymetrix human U133-Plus 2 transcriptional profiling microarrays. " 07/01/2023 - "Here, we focused on the regulatory function of the lncRNA Down syndrome critical region 9 (DSCR9) in breast cancer stem cells (BCSCs). " 09/01/2020 - "Meanwhile, lncRNA DSCR8 (Down syndrome critical region 8) has been reported as an oncogene in hepatocellular carcinoma. " 01/01/2018 - "Previous evidences reveal that long non-coding RNA (lncRNA) down syndrome critical region 8 (DSCR8) involves in the progression of multiple cancers. " 09/24/2021 - "lncRNA DSCR8 (Down syndrome critical region 8) is involved in progression of many cancers, but its specific role in gastric cancer (GC) is still unclear. "
6.	Protein Isoforms (Isoforms)IBA 01/01/2021 - "Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms." 10/01/2017 - "Secretion of Down Syndrome Critical Region 1 Isoform 4 in Ischemic Retinal Ganglion Cells Displays Anti-Angiogenic Properties Via NFATc1-Dependent Pathway." 08/19/2005 - "In this study we showed that the transcriptional regulation of Down syndrome critical region isoform 4 (DSCR1.4) is mediated by the calcineurin/nuclear factor of activated T cells (NFAT) pathway in neural cells. " 08/19/2005 - "Depolarization of neural cells induces transcription of the Down syndrome critical region 1 isoform 4 via a calcineurin/nuclear factor of activated T cells-dependent pathway." 01/01/2021 - "The HR-DSCR is annotated as an intergenic region between KCNJ6-201 transcript encoding for potassium inwardly rectifying channel subfamily J member 6 and DSCR4-201 transcript encoding Down syndrome critical region 4. Two transcripts recently identified by massive RNA-sequencing (RNA-Seq) and automatically annotated on Ensembl database reveal that the HR-DSCR seems to be partially crossed by KCNJ6-202 and DSCR4-202 isoforms. "
7.	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 07/01/2023 - "Downregulation of the long noncoding RNA DSCR9 (Down syndrome critical region 9) delays breast cancer progression by modulating microRNA-504-5p-dependent G protein-coupled receptor 65." 02/01/2009 - "Association of metastin/a G-protein-coupled receptor signaling and Down syndrome critical region 1 in epithelial ovarian cancer." 02/01/2009 - "It has been revealed that metastin/a G-protein-coupled receptor (AXOR12) signaling enhances the expression of Down syndrome critical region 1 (DSCR1), known to be duplicated in Down syndrome, and suppresses tumor metastasis in in vitro study. "
8.	KisspeptinsIBA 02/01/2009 - "Association of metastin/a G-protein-coupled receptor signaling and Down syndrome critical region 1 in epithelial ovarian cancer." 02/01/2009 - "It has been revealed that metastin/a G-protein-coupled receptor (AXOR12) signaling enhances the expression of Down syndrome critical region 1 (DSCR1), known to be duplicated in Down syndrome, and suppresses tumor metastasis in in vitro study. "
9.	Actin-Related Protein 2-3 Complex (Arp2 3 Complex)IBA 01/01/2023 - "In this study, we employed Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) databases to construct a ceRNA network by bioinformatic analysis, and the Down syndrome critical region 8 (lncRNA_DSCR8)/miR-22-3p/actin-related protein 2/3 complex subunit 5 (ARPC5) axis was identified as a potential target in liver cancer (LC). "
10.	Competitive Endogenous RNAIBA 01/01/2023 - "In this study, we employed Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) databases to construct a ceRNA network by bioinformatic analysis, and the Down syndrome critical region 8 (lncRNA_DSCR8)/miR-22-3p/actin-related protein 2/3 complex subunit 5 (ARPC5) axis was identified as a potential target in liver cancer (LC). "

Therapies and Procedures

1.	Therapeutics 03/15/2010 - "The human single-minded 2 (SIM2) gene is mapped within the Down syndrome critical region (DSCR) of chromosome 21 and its short splice variant SIM2-s is suggested to be a molecular target for cancer therapy. "