Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE Our study reveals that DSCR1 plays a critical upstream role in epigenetic regulation of adult neurogenesis and provides insights into potential therapeutic strategy for treating cognitive defects in Down syndrome. 31304631 2019
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE Regulator of calcineurin 1 (RCAN1) is a multifunctional protein involved in neurodegeneration, mitochondrial dysfunction, inflammation and protein glycosylation, and plays an important role in the pathogenesis of Down syndrome and Alzheimer's disease. 31451750 2019
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE This study utilizes two C. elegans models for DS: rcn-1 overexpression model, displaying a calcineurin-deficient phenotype, and calcineurin loss-of function mutants. 28849527 2018
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE To examine the impact of more modest, and biologically relevant, increases in RCAN1, we compared the mitochondrial network in induced pluripotent stem cells derived from individuals with Down syndrome to that of isogenic, disomic controls. 29362227 2018
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE RCAN1 (regulator of calcineurin 1) contributes to CHD in Down syndrome. 28993896 2018
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 AlteredExpression disease BEFREE However, strong evidence also supports the notion that chronic (weeks-years) overexpression of RCAN1 has a detrimental effect on cells and that this may drive pathophysiological changes in neurons and endocrine cells linked to Down syndrome, Alzheimer's Disease and type 2 diabetes. 29094385 2018
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE Although regulator of calcineurin 1 (RCAN1) belongs to this region and its ectopic overexpression in neurons impairs transmitter release, synaptic plasticity, learning and memory, the relative contribution of RCAN1 in a context of DS has yet to be clarified. 30034324 2018
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE Among the known human genes whose study was affected by this artifact, we can include disco interacting protein 2 homolog A (DIP2A; KIAA0184), Down syndrome critical region 1 (DSCR1), SON DNA binding protein (SON), trefoil factor 3 (TFF3) and URB1 ribosome biogenesis 1 homolog (URB1; KIAA0539) on chromosome 21, as well as receptor for activated C kinase 1 (RACK1, also known as GNB2L1), glutaminyl‑tRNA synthetase (QARS) and tyrosyl-DNA phosphodiesterase 2 (TDP2) along with another 474 loci, including interleukin 16 (IL16). 28393177 2017
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 AlteredExpression disease BEFREE Oxidative stress and overexpression of RCAN1 are implicated in neuronal impairment in Down's syndrome (DS) and Alzheimer's disease (AD). 27928873 2017
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE Thus, from amongst the myriad of gene expression changes occurring in T2D β-cells where we had little knowledge of which changes cause β-cell dysfunction, we applied a trisomy 21 screening approach which linked RCAN1 to β-cell mitochondrial dysfunction in T2D. 27195491 2016
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 AlteredExpression disease BEFREE RCAN1 levels are increased in the brain of DS and AD patients but also in the human brain with normal aging. 26497675 2015
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 AlteredExpression disease BEFREE Genetically correcting RCAN1 levels in Down syndrome mice markedly improves NGF-dependent receptor trafficking, neuronal survival and innervation. 26658127 2015
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE We correlated, in a preliminary study, the fibroblast proliferation rate and different cell proliferation key regulators, like Rcan1 and the telomere length from Down Syndrome fetuses, with their oxidative stress profile and the Ribonucleic acid and protein expression of the main antioxidant enzymes together with their activity. 24184606 2014
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE These data provide evidence that a single extra copy of Dscr1 is sufficient to suppress tumor angiogenesis during spontaneous lung tumorigenesis and further support our hypothesis that suppression of tumor angiogenesis by an additional copy of Dscr1 contributes to the reduced cancer incidence in individuals with Down syndrome and the calcineurin pathway in the tumor vasculature is a potential target for cancer treatment. 24051307 2014
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 AlteredExpression disease BEFREE Trisomy 21 in patients with DS results in increased activity of an important antioxidant enzyme Cu/Zn superoxide dismutase (SOD) which gene is located on the 21st chromosome along with other proteins such as transcription factor Ets-2, stress inducing factors (DSCR1) and precursor of beta-amyloid protein responsible for the formation of amyloid plaques in Alzheimer disease. 24908086 2014
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE These RCAN1 isoform 4 effects may contribute to at least some of the observed phenotypes in individuals with Down syndrome and Alzheimer's. 23317802 2013
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 GeneticVariation disease BEFREE The chromosome 21 gene RCAN1, encoding a modulator of the calcineurin (CaN) phosphatase, is a candidate gene for contributing to cognitive disability in people with Down syndrome (DS; trisomy 21). 23096997 2013
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 AlteredExpression disease BEFREE In contrast, prolonged elevation of RCAN1-1L levels is associated with the types of neurodegeneration observed in several diseases, including Alzheimer disease and Down syndrome. 23369757 2013
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE RCAN1 transgenic (TG) mice exhibit T cell abnormalities that bear a striking similarity to the abnormalities described in individuals with DS. 23644448 2013
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE To gain insights into the role of DSCR1 in AD, we explored the functional interaction between DSCR1 and the amyloid precursor protein (APP), which is known to cause AD when duplicated or upregulated in DS. 24086147 2013
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE Dysregulation of two genes, Dyrk1a and Rcan1, key to craniofacial and neurological precursors of DS, was shared in craniofacial precursors of DS and FAS embryos. 23554291 2013
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 Biomarker disease BEFREE Our results imply that DSCR1 is a novel regulator of FMRP and that Fragile X syndrome and Down syndrome may share disturbances in common pathways that regulate dendritic spine morphology and local protein synthesis. 22863780 2012
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 AlteredExpression disease BEFREE The Down syndrome critical region 1 (DSCR1) gene encodes a regulator of the calcineurin 1 (RCAN1) protein, and the elevated levels of RCAN1 are associated with Alzheimer's disease (AD) and Down syndrome (DS). 22293192 2012
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 AlteredExpression disease BEFREE The Down syndrome candidate region 1 (DSCR1) gene is located on human chromosome 21 and its protein is over-expressed in brains of Down syndrome individuals. 23144708 2012
Entrez Id: 1827
Gene Symbol: RCAN1
RCAN1
0.400 GeneticVariation disease BEFREE However, our patient is the first patient with Down syndrome whose clinical findings were provided in detail, with a de novo derivative chromosome 21 resulting from multiple chromosome breaks excluding DYRK1A and DSCR1 gene regions. 22827956 2012