|
rs5742905
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Here, a mouse model for CBS deficiency (<i>Tg-I278T Cbs<sup>-/-</sup></i>) was used to evaluate the potential of minicircle-based naked DNA gene therapy to treat CBS deficiency.
|
31084364 |
2019 |
|
rs5742905
|
|
|
0.850 |
GeneticVariation |
BEFREE |
To better understand the effectiveness of nutritional treatment strategies, we have performed a series of long-term dietary manipulation studies using our previously developed Tg-I278T Cbs(-/-) mouse model of CBS deficiency and sibling Tg-I278T Cbs(+/-) controls.
|
26599618 |
2016 |
|
rs5742905
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Missense mutations in the cystathionine beta-synthase (CBS) gene, such as I278T, are responsible for CBS deficiency, the most common inherited disorder in sulfur metabolism.
|
17540596 |
2007 |
|
rs5742905
|
|
|
0.850 |
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 |
|
rs5742905
|
|
|
0.850 |
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 |
|
rs398123151
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The highest incidence of CBS deficiency in the world is found in the country of Qatar due to the combination of high rates of consanguinity and the presence of a founder mutation, c.1006C>T (p.R336C).
|
31240737 |
2019 |
|
rs121964962
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The p.G307S mutation is the most frequent cause of CBS deficiency in Ireland, which has the highest prevalence of CBS deficiency in Europe.
|
30030379 |
2018 |
|
rs760214620
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Later, the same mutation was found in three other apparently unrelated Iranian homocystinuria patients. p.Gly116Arg was reported once before in a Turkish patient, suggesting it may be a common CBS deficiency causing mutation in the Middle East.
|
25455305 |
2014 |
|
rs121964969
|
|
|
0.810 |
GeneticVariation |
BEFREE |
These studies show that the G797A mutation is an important cause of pyridoxine-responsive CBS deficiency and demonstrate the utility of yeast functional assays in the analysis of human mutations.
|
9361025 |
1997 |
|
rs121964971
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The P422L and S466L mutations were found in patients suffering premature thrombosis and homocystinuric levels of Hcy but lacking any of the connective tissue disorders typical of homocystinuria due to CBS deficiency.
|
12007221 |
2002 |
|
rs28934892
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The P422L and S466L mutations were found in patients suffering premature thrombosis and homocystinuric levels of Hcy but lacking any of the connective tissue disorders typical of homocystinuria due to CBS deficiency.
|
12007221 |
2002 |
|
rs777919630
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis.
|
9490685 |
1998 |
|
rs876657421
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here, a mouse model for CBS deficiency (<i>Tg-I278T Cbs<sup>-/-</sup></i>) was used to evaluate the potential of minicircle-based naked DNA gene therapy to treat CBS deficiency.
|
31084364 |
2019 |
|
rs876657421
|
|
|
0.030 |
GeneticVariation |
BEFREE |
To better understand the effectiveness of nutritional treatment strategies, we have performed a series of long-term dietary manipulation studies using our previously developed Tg-I278T Cbs(-/-) mouse model of CBS deficiency and sibling Tg-I278T Cbs(+/-) controls.
|
26599618 |
2016 |
|
rs876657421
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Missense mutations in the cystathionine beta-synthase (CBS) gene, such as I278T, are responsible for CBS deficiency, the most common inherited disorder in sulfur metabolism.
|
17540596 |
2007 |
|
rs1064793703
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The highest incidence of CBS deficiency in the world is found in the country of Qatar due to the combination of high rates of consanguinity and the presence of a founder mutation, c.1006C>T (p.R336C).
|
31240737 |
2019 |