RCAN1, regulator of calcineurin 1, 1827

N. diseases: 110; N. variants: 7
Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Genes such as DSCR1 that are duplicated in Down syndrome might not play an important role in tumorigenesis of epithelial ovarian cancer. 19331211 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE These data provide a mechanism for the reduced cancer incidence in Down's syndrome and identify the calcineurin signalling pathway, and its regulators DSCR1 and DYRK1A, as potential therapeutic targets in cancers arising in all individuals. 19458618 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Furthermore, the map enabled us to present evidence against the necessary involvement of other loci as well as specific hypotheses that have been put forward in relation to the etiology of DS-i.e., the presence of a single DS consensus region and the sufficiency of DSCR1 and DYRK1A, or APP, in causing several severe DS phenotypes. 19597142 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE We hypothesize that overexpression of three genes, dap160/itsn1, synj/synj1, and nla/dscr1, located on human chromosome 21 play important roles in DS neurons. 19805187 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE We conclude that DSCR1/RCAN is not sufficient for generating phenotypic features associated with DS but our observation does not contradict a possible role for DSCR1/RCAN in mediating DYRK1A-based effects. 20101688 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE 3) or DS candidate region 1 (DSCR1) genes (a previously known suppressor of angiogenesis) is sufficient to inhibit tumour growth. 20535211 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Our data show that RCAN1 expression is elevated in the cortex of DS and AD patients. 21216952 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE In this report, we found that the regulator of calcineurin 1 (RCAN1), which is overexpressed in the brain of patients with Down syndrome, increased the phosphorylation of CREB and cAMP response element-mediated gene transcription in response to the activation of the intracellular cAMP pathway. 21890628 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Two genes on chromosome 21, namely dual specificity tyrosine phosphorylation-regulated kinase 1A (Dyrk1A) and regulator of calcineurin 1 (RCAN1), have been implicated in some of the phenotypic characteristics of Down syndrome, including the early onset of Alzheimer disease. 21965663 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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