×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.
25044645
2014
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Our study experimentally supports a deficient regulation of CBS by SAM as a frequently found mechanism in CBS deficiency , which should be considered not only as a valuable diagnostic tool but also as a potential target for the development of new therapeutic approaches in classical homocystinuria.
23974653
2014
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.
23981774
2013
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.
22738154
2012
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
21520339
2011
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
21240075
2011
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
In summary, our results show that topology of mutations predicts in part the behavior of mutant CBS , and that misfolding may be an important and frequent pathogenic mechanism in CBS deficiency .
20506325
2010
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
16429402
2006
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Molecular analysis of homocystinuria in Brazilian patients.
15993874
2005
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
16205833
2005
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
15146473
2004
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
15365998
2004
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
14635102
2003
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
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
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
We determined the molecular basis of CBS deficiency in 36 Australian patients from 28 unrelated families, using direct sequencing of the entire coding region of the CBS gene.
12124992
2002
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
12007221
2002
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
These data suggest that abnormal folding, impaired heme binding, and aggregation of mutant CBS polypeptides may be common pathogenic mechanisms in CBS deficiency .
11359213
2001
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.
11553052
2001
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.
11013450
2000
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.
10408774
1999
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
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
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
9889017
1998
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
9361025
1997
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Background: The continued identfication of new mutations in the cystathionine beta-synthase (CBS ) gene is important in correlating the genotype/phenotype of patients with classic homocystinuria and in assessing whether heterozygosity of CBS deficiency is an important cause of mild hyperhomocysteinemia, an independent risk factor for occlusive vascular diseases.
10462600
1997
×
Entrez Id:
875
Gene Symbol:
CBS
CBS
0.800
GeneticVariation
disease
UNIPROT
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
9156316
1997