Condition: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED


rs121964962 in CBS gene and HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID 20506325 2010 Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

PMID 23733603 2013 Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.

PMID 8744616 1996 Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.

PMID 9889017 1998 Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.

PMID 7506602 1993 Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

PMID 22267502 2012 Surrogate genetics and metabolic profiling for characterization of human disease alleles.

PMID 7581402 1995 High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.

PMID 22069143 2012 Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.

PMID 7762555 1995 The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

PMID 22612060 2012 Conformational properties of nine purified cystathionine β-synthase mutants.

PMID 20490928 2011 Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.

PMID 12124992 2002 The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

PMID 23812867 2014 A forgotten lethal psychosis: a case report.

PMID 9156316 1997 Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.

PMID 21520339 2011 Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

PMID 16205833 2005 Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

PMID 14635102 2003 Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

PMID 16479318 2006 The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

PMID 11774777 2001 Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.

PMID 25218699 2015 Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

PMID 16470595 2006 High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.

PMID 10338090 1999 Cystathionine beta-synthase mutations in homocystinuria.

PMID 15993874 2005 Molecular analysis of homocystinuria in Brazilian patients.

PMID 12815602 2003 Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

PMID 16429402 2006 Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

PMID 7635485 1995 Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.

PMID 20567906 2011 Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

PMID 18708589 2008 Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.

PMID 11359213 2001 Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

PMID 10215408 1998 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.

PMID 10364517 1999 The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

PMID 9587029 1998 Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

PMID 22985361 2013 Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM.

PMID 23974653 2014 Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

PMID 18280597 2009 Vascular and connective tissue features in 5 Italian patients with homocystinuria.

PMID 25044645 2014 Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

PMID 12007221 2002 High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

PMID 8755636 1996 Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

PMID 18805305 2008 [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase].

PMID 14972327 2004 Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.

PMID 21030686 2010 Increased homocysteine in a patient diagnosed with Marfan syndrome.

PMID 10408774 1999 Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.

PMID 21517828 2012 Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.

PMID 26464485 2015 Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

PMID 25516723 2014 Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis.

PMID 2056790 1991 [Hospital outbreak of salmonellosis with secondary cases].

PMID 9708897 1998 Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.

PMID 15146473 2004 Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

PMID 7611293 1995 A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

PMID 19819175 2010 A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

PMID 8803779 1996 Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.

PMID 11434706 2001 High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.

PMID 17072863 2007 Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

PMID 1301198 1992 Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.

PMID 9870207 1998 Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

PMID 15365998 2004 The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

PMID 29352562 2018 CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

PMID 16307898 2006 Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.

PMID 24211323 2014 High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

PMID 19370759 2009 Molecular neonatal screening for homocystinuria in the Qatari population.

PMID 29326875 2018 Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.

PMID 20308073 2010 Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.

PMID 7849717 1994 Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

PMID 20066033 2010 Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.