SNP information rs5742905

Research and publications:

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

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

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

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

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

  8940271   High prevalence of a mutation in the cystathionine beta-synthase gene.

  10328723   Prevalence of congenital homocystinuria in Denmark.

  10338090   Cystathionine beta-synthase mutations in homocystinuria.

  10364517   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.

  10807759   Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.

  11748855   Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

  14722927   The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

  15748616   Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine beta-synthase gene.

  15972722   Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

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

  19112534   Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma

  19493349   118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

  19559392   A candidate gene association study of 77 polymorphisms in migraine

  19683694   Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida

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

  20301697   Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency.

  20419766   Epidemiologic and genetic aspects of spina bifida and other neural tube defects.

  21254358   Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.

  21254359   Folate pathway and nonsyndromic cleft lip and palate.

  21302343   The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects.

  21567207   Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease.

  21615938   Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder.

  21957013   Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.

  22833659   Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults.

  23592311   Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.

  23656756   Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  24524080   The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism.

  26791477   The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study.

  28250422   Components of the folate metabolic pathway and ADHD core traits: an exploration in eastern Indian probands.

  28514598   The communal relation of MTHFR, MTR, ACE gene polymorphisms and hyperhomocysteinemia as conceivable risk of coronary artery disease.

  29413960   Total sulfane sulfur bioavailability reflects ethnic and gender disparities in cardiovascular disease.

  29574679   In silico characterization of functional single nucleotide polymorphisms of folate pathway genes.

  30380942   Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia.

  33013017   Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis.

  33719952   Molecular Evaluation of Exon 8 Cystathionine rs5742905T T>C Gene Polymorphism and Determination of its Frequency, Distribution Pattern, and Association with Susceptibility to Coronary Artery Disease in the North Indian Population.

  35264229   Association of MTHFR rs1801133 and homocysteine with Legg-Calvé-Perthes disease in Mexican patients.

  19330901   Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.