|
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 |
|
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 |
|
Vitiligo
|
|
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 |
|
Anxiety Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, the MRD increased anxiety and reduced bone mineral content in both I278T mice and wild-type controls.
|
31450979 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Cerebrovascular accident
|
|
0.010 |
GeneticVariation
|
BEFREE |
Significant associations between CBS T833C genetic polymorphism and risk of stroke were observed in most genetic models (OR=1.57, 95% CI=1.02-2.41, p=0.039 for TC+CC vs. TT; OR=1.79, 95% CI=1.14-2.82, p=0.012 for CC vs. TT; OR=1.56, 95% CI=1.01-2.40, p=0.044 for TC vs. TT).
|
21917271 |
2012 |
|
Peripheral Arterial Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study analyzed 39 patients with PAD and 32 without PAD in whom risk factors and C677T mutations in the MTHFR gene and both 844ins68 and T833C mutations in the CBS gene were investigated.
|
21104445 |
2011 |
|
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 |
|
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 |
|
Cardiovascular Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Because of both the high prevalence of the 833T-->C mutation among homozygotes for CBS deficiency and its absence in 60 cardiovascular patients, we may conclude that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease.
|
8554066 |
1996 |
|
Bone Demineralization, Pathologic
|
|
0.010 |
GeneticVariation
|
BEFREE |
The finding that the two patients who are homozygous for I278T have only ectopia lentis and mild bone demineralization suggests that this mutation is associated with both in vivo pyridoxine responsiveness and mild clinical disease.
|
7611293 |
1995 |
|
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 |
|
Hyperhomocysteinemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Tg-I278T Cbs(-/-) mice exhibited severe hyperhomocysteinemia and endothelial dysfunction in cerebral arterioles.
|
22186991 |
2012 |
|
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 |
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, THROMBOTIC, CBS-RELATED
|
|
0.700 |
CausalMutation
|
CLINVAR |
Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis.
|
25516723 |
2014 |
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.
|
22069143 |
2012 |
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
|
0.700 |
CausalMutation
|
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |