|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.
|
11013450 |
2000 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
|
21240075 |
2011 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
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 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
|
7635485 |
1995 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
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 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
|
16205833 |
2005 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
|
7849717 |
1994 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
|
7611293 |
1995 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
|
12007221 |
2002 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.
|
10215408 |
1998 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
|
15365998 |
2004 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
|
7981678 |
1994 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
|
8528202 |
1995 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
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 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
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 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
|
10462600 |
1997 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
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 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.
|
22738154 |
2012 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.
|
25044645 |
2014 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
|
23974653 |
2014 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
|
14635102 |
2003 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
|
12815602 |
2003 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.
|
11553052 |
2001 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+1G>T).
|
15146473 |
2004 |