|
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 |
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 |
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 |
CausalMutation
|
CLINVAR |
Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.
|
23592311 |
2013 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.
|
22069143 |
2012 |
|
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 |
CausalMutation
|
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |
|
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
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
|
20506325 |
2010 |
|
Cystathionine beta-Synthase Deficiency Disease
|
|
0.850 |
CausalMutation
|
CLINVAR |
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
|
19819175 |
2010 |
|
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 |
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
|
16429402 |
2006 |
|
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 |
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 |
CausalMutation
|
CLINVAR |
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.
|
14722927 |
2004 |
|
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 |
|
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 |
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 |
CausalMutation
|
CLINVAR |
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
|
11359213 |
2001 |
|
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 |
CausalMutation
|
CLINVAR |
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 |
Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.
|
11013450 |
2000 |