Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease BEFREE CBS inhibition offers a potential approach for the pharmacological correction of DS-associated mitochondrial dysfunction. 31481613 2019
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 AlteredExpression disease BEFREE These results may allow us to better understand the role of the transsulfuration pathway and especially CBS overexpression in the metabolism of biogenic amines and the catecholamine catabolism in persons with trisomy 21. 30238388 2019
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease BEFREE Altogether, this shows that Cbs overdosage is involved in DS learning and memory phenotypes. 30649339 2019
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome. 26475388 2015
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China. 23430030 2013
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. 24068460 2013
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 AlteredExpression disease BEFREE These results shed new light on the function of the CBS gene, and raise the interesting possibility that CBS overexpression might have an advantageous effect on some cognitive functions in DS. 22253703 2012
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE Individuals with Down syndrome (DS) carry three copies of the Cystathionine β-synthase (CβS) gene. 22903356 2012
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 AlteredExpression disease BEFREE In Down's syndrome there is evidence that increased gene expression coding for specific cystathionine beta-synthase translates directly into biochemical aberrations, which result in a biochemical and metabolic imbalance of the methyl status. 21195648 2011
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE In a group of 121 case families (mother, father, and proband with DS and AVSD) and 122 control families (mother, father, and proband with DS and no CHD), tag SNPs were genotyped in and around five folate pathway genes: 5,10-methylenetetrahyrdofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), cystathionine beta-synthase (CBS), and the reduced folate carrier (SLC19A1, RFC1). 20718043 2010
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE The results show that individual polymorphisms studied in this work are not associated with DS; however, the effects of the combined risk genotypes among MTR, MTRR, CBS and RFC genes are considered maternal risk factors for DS offspring in our population. 21045269 2010
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome. 19729796 2009
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 AlteredExpression disease BEFREE A model of leukemogenesis in DS is proposed in which mutagenesis is driven by cystathionine-beta-synthase overexpression and altered folate homeostasis that becomes fixed as the ability to repair DNA damage is compromised. 19633202 2009
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE The methionine-synthase-reductase A66G, the methionine-synthase A2756G and the cystathionine-beta-synthase 844ins68 polymorphisms were not associated with increased risk of Down syndrome. 16845273 2006
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 AlteredExpression disease BEFREE Paraoxonase-1 was up-regulated in Down syndrome fetal liver, while cystathionine beta synthase gene expression in Down syndrome fetuses was similar to the gene level in control fetuses. 16806076 2006
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 AlteredExpression disease LHGDN To analyze the possible role of CBS in Down syndrome, we have produced several lines of transgenic mice expressing the human CBS gene. 16541333 2006
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease BEFREE To analyze the possible role of CBS in Down syndrome, we have produced several lines of transgenic mice expressing the human CBS gene. 16541333 2006
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease BEFREE Taking into consideration that in the one-carbon metabolism cystathionine beta-synthase (CBS) catalyzes Hcy in an irreversible way, and that CBS gene is located in chromosome 21, fetuses and infants with DS have functional folate deficiency due to overexpression of CBS. 16575899 2006
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 AlteredExpression disease LHGDN The over-expression of CBS may cause the developmental abnormality in cognition in DS children and that may lead to AD in DS adults. 16274669 2005
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. 15889417 2005
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease BEFREE The high event-free survival (EFS) rates of DS AML patients and in particular, patients with megakaryocytic leukemia (AMkL), at least in part reflects an increased sensitivity to cytosine arabinoside (ara-C) secondary to increased expression of the chromosome 21-localized gene, cystathionine-beta-synthase, and potentially global mechanisms which increase the susceptibility of cells to undergo apoptosis. 15390307 2005
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 GeneticVariation disease BEFREE The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C > T, MTHFR 1298A > C, the methionine synthase (MTR) 2756A > G, the cystathionine beta-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G > A polymorphisms, contribute to the risk of trisomy 21. 16115349 2005
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 AlteredExpression disease LHGDN Subsequent quantitative analysis of CBS and PDXK revealed levels comparable between DS and controls. 15082224 2004
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 AlteredExpression disease BEFREE Subsequent quantitative analysis of CBS and PDXK revealed levels comparable between DS and controls. 15082224 2004
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease BEFREE In clinically relevant AML cell line models, high cystathionine-beta-synthase transcripts in DS CMK cells were accompanied by 10-fold greater ara-C sensitivity and 2.4-fold higher levels of ara-CTP compared with non-DS CMS cells. 14744791 2004