|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
|
16429402 |
2006 |
|
Homocystinuria
|
|
0.760 |
GeneticVariation
|
BEFREE |
In conclusion, ERT maintained an improved metabolic pattern and ameliorated many of the clinical complications in the I278T mouse model of HCU.
|
29398487 |
2018 |
|
Homocystinuria
|
|
0.760 |
GeneticVariation
|
BEFREE |
These findings do not appear restricted to S. cerevisiae, as proteasome inhibitors can restore significant CBS enzymatic activity to CBS alleles expressed in fibroblasts derived from homocystinuric patients and in a mouse model for homocystinuria that expresses human I278T CBS.
|
20066033 |
2010 |
|
Homocystinuria
|
|
0.760 |
GeneticVariation
|
BEFREE |
We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine beta-synthase (CBS) falls far short of the number of such individuals expected on the basis of the heterozygote frequency for this mutation found by molecular screening.
|
19819175 |
2010 |
|
Homocystinuria
|
|
0.760 |
GeneticVariation
|
BEFREE |
The MRD alone decreased plasma Hcy by 67% and corrected the HCU phenotype in I278T mice.
|
31450979 |
2019 |
|
Homocystinuria
|
|
0.760 |
GeneticVariation
|
BEFREE |
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
|
17072863 |
2007 |
|
Homocystinuria
|
|
0.760 |
GeneticVariation
|
BEFREE |
The c.[833T>C;844_845ins68] mutation in the CBS gene has been reported initially as corresponding to classic homocystinuria.
|
19593657 |
2009 |
|
Homocystinuria, Pyridoxine-Responsive
|
|
0.720 |
GeneticVariation
|
BEFREE |
Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278 T) in the cystathionine beta-synthase (CBS) gene represents the most common cause of pyridoxine-responsive homocystinuria in Western Eurasians.
|
17072863 |
2007 |
|
Homocystinuria, Pyridoxine-Responsive
|
|
0.720 |
GeneticVariation
|
BEFREE |
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
|
7611293 |
1995 |
|
Hyperhomocysteinemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Mild hyperhomocysteinemia is associated to mutations either in cystathionine beta-synthase (CBS) or in 5,10-methylenetetrahydrofolate reductase (MTHFR) genes.In 1995, Sebastio et al. characterized a 68 bp insertion in cis with the most common CBS mutation (T833C) detected in homocystinuric patients.
|
10190322 |
1999 |
|
Hyperhomocysteinemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T-->C mutation.
|
10807759 |
2000 |
|
Hyperhomocysteinemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Tg-I278T Cbs(-/-) mice exhibited severe hyperhomocysteinemia and endothelial dysfunction in cerebral arterioles.
|
22186991 |
2012 |
|
Endothelial dysfunction
|
|
0.020 |
GeneticVariation
|
BEFREE |
We found that, compared with untreated I278T mice, OT-58 treatment of I278T mice fed with the REG diet resulted in a 90% decrease in plasma Hcy concentrations and correction of learning/cognition, endothelial dysfunction, hemostasis, bone mineralization, and body composition.
|
31450979 |
2019 |
|
Endothelial dysfunction
|
|
0.020 |
GeneticVariation
|
BEFREE |
Tg-I278T Cbs(-/-) mice exhibited severe hyperhomocysteinemia and endothelial dysfunction in cerebral arterioles.
|
22186991 |
2012 |
|
Complete Trisomy 21 Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Polymerase chain reaction and restriction-fragment length polymorphism were used to examine the polymorphisms of RFC-1 A80G, CBS T833C and the relationship between these genotypes and the risk of Down syndrome was analyzed.
|
23430030 |
2013 |
|
Hyperactive behavior
|
|
0.010 |
GeneticVariation
|
BEFREE |
Hyperactivity-impulsivity score revealed association with rs5742905 'TT' and rs2236225 'CC', while rs1801133 'CC' showed association with inattentiveness and hyperactivity-impulsivity. rs1801131 exhibited strong synergistic interaction with rs1051266 and rs2236225.
|
28250422 |
2017 |
|
Bipolar Disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results are the first suggesting a possible association between T833C polymorphism (rs5742905) of the CBS gene and bipolar disorder.
|
24577139 |
2014 |
|
Bipolar Disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results are the first suggesting a possible association between T833C polymorphism (rs5742905) of the CBS gene and bipolar disorder.
|
24577139 |
2014 |
|
Atherothrombosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis.
|
12476935 |
2002 |
|
Down Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Polymerase chain reaction and restriction-fragment length polymorphism were used to examine the polymorphisms of RFC-1 A80G, CBS T833C and the relationship between these genotypes and the risk of Down syndrome was analyzed.
|
23430030 |
2013 |
|
Anxiety
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, the MRD increased anxiety and reduced bone mineral content in both I278T mice and wild-type controls.
|
31450979 |
2019 |
|
Attention deficit hyperactivity disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
Functional gene variants in MTR (rs1805087), CBS (rs5742905), MTHFR (rs1801133 &rs1801131), MTHFD (rs2236225), RFC1 (rs1051266), plasma vitamin B12, folate and homocysteine were analyzed. rs1805087 'A' showed strong association with ADHD.
|
28250422 |
2017 |
|
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
|
|
0.010 |
GeneticVariation
|
BEFREE |
This is the first study reporting the correlation between the polymorphic status of MTHFR C677T, CBS I278T, and MTRR A66G and vitiligo.
|
30720153 |
2019 |
|
Osteopenia
|
|
0.010 |
GeneticVariation
|
BEFREE |
More importantly, administration of ERT rescued bone mass and changes in body composition in the KO mice treated since birth and reversed bone loss and improved fat content in the I278T mice injected after the development of clinical symptoms.
|
29044829 |
2018 |
|
Thrombophilia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Because a reduction of the severely elevated levels of tHcy in CBS deficiency reduces cardiovascular risk and because homozygosity for the 833T-->C mutation is more prevalent than previously thought, our results emphasize the importance of measuring tHcy routinely in thrombophilia screening.
|
10807759 |
2000 |