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

No abstract is available for this paper.

• Publication year

  1996

• Venue

  American Journal of Human Genetics

• Publication date

  1996-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 8940271PMCID PMC1914870
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts

  2004cited by this paper
• Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria.

  1996cited by this paper
• Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.

  1996cited by this paper
• Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

  1995cited by this paper
• Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients

  1995cited by this paper
• A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

  1995cited by this paper
• Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis.

  1995cited by this paper
• The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

  1995cited by this paper
• Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.

  1995cited by this paper
• Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

  1994cited by this paper
• A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding.

  1993cited by this paper
• Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

  1993cited by this paper
• Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

  1993cited by this paper
• The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element

  1993cited by this paper
• A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians.

  1992cited by this paper
• Hyperhomocysteinemia: an independent risk factor for vascular disease.

  1991cited by this paper
• Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines

  1984cited by this paper
• Cardiac Troponin

  year unknowncited by this paper

• Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing

  2025cites this paper
• Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study

  2024cites this paper
• Association of MTHFD1 G1958A, MTHFD1 T401C and CBS 844ins68bp with Breast Cancer in Jordan

  2024cites this paper
• Global DNA Methylation Levels Viz-a-Viz Genetic and Biochemical Variations in One Carbon Metabolic Pathway: An Exploratory Study from North India

  2024influential citation
• Genetic Modulation of HPV Infection and Cervical Lesions: Role of Oxidative Stress-Related Genes

  2023cites this paper
• Interactions Between Obesity and One-Carbon Metabolism Genes in Predicting Prostate Cancer Outcomes Among White and Black Patients

  2021cites this paper
• Cystathionine β-synthase and methylenetetrahydrofolate reductase mutations in Mexican individuals with hyperhomocysteinemia

  2020cites this paper
• A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing

  2020cites this paper
• A study of CBS gene polymorphism, plasma H2S levels and their association in type-2 diabetes mellitus

  2018cites this paper
• Impact of genetic polymorphisms in key enzymes of homocysteine metabolism on the pathophysiology of sickle cell anemia

  2017cites this paper
• Analysis of polymorphisms in genes involved in folate metabolism and its impact on Down syndrome and other intellectual disability

  2017cites this paper
• Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes.

  2017cites this paper
• Study Exploring the Effects of Daily Supplementation with 400 μg of Folic Acid on the Nutritional Status of Folate in Women of Reproductive Age.

  2017cites this paper
• Increased Plasma Homocysteine Level is Associated with Executive Dysfunction in Type 2 Diabetic Patients with Mild Cognitive Impairment

  2017cites this paper
• Association between polymorphisms in folate metabolism genes and maternal risk for Down syndrome: A meta-analysis

  2017cites this paper
• Components of the folate metabolic pathway and ADHD core traits: an exploration in eastern Indian probands

  2017cites this paper
• Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage.

  2017cites this paper
• Potential Links between Impaired One-Carbon Metabolism Due to Polymorphisms, Inadequate B-Vitamin Status, and the Development of Alzheimer’s Disease

  2016cites this paper
• Improvement of gamete quality by stimulating and feeding the endogenous antioxidant system: mechanisms, clinical results, insights on gene-environment interactions and the role of diet

  2016cites this paper
• Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion.

  2015cites this paper
• Methylation diet and methyl group genetics in risk for adenomatous polyp occurrence

  2015cites this paper
• Association of MTHFR 677C>T genetic polymorphism with hyperhomocysteinemia in type 2 diabetes patients

  2015cites this paper
• CBS c.844ins68 Polymorphism Frequencies in Control Populations: Implications on Nonsyndromic Cleft Lip with or without Cleft Palate

  2015cites this paper
• ENDOCRINOLOGY, NUTRITION & METABOLISM | RESEARCH ARTICLE Association of MTHFR 677C>T genetic polymorphism with hyperhomocysteinemia in type 2 diabetes patients

  2015cites this paper
• Alcohol abuse and cigarette smoking are associated with global DNA hypermethylation: results from the German Investigation on Neurobiology in Alcoholism (GINA).

  2015cites this paper
• In vitro and in vivo approaches to the examination of folate-related nutritional genetics in health and disease

  2014cites this paper
• The association between the 844ins68 polymorphism in the CBS gene and breast cancer

  2014influential citation
• Genetics and epigenetics in Parkinson´s disease

  2014cites this paper
• Cystathionine beta-synthase 844ins68 polymorphism is unrelated to susceptibility to neural tube defects.

  2014cites this paper
• Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion Metabolismo e polimorfismos gênicos da via do folato em mulheres brasileiras com história de aborto recorrente

  2014cites this paper
• Genetic variants of methionine metabolism and DNA methylation.

  2014cites this paper
• Hydrogen sulphide-related thiol metabolism and nutrigenetics in relation to hypertension in an elderly population

  2013cites this paper
• Homocysteine plasma levels in patients treated with antiepileptic drugs depend on folate and vitamin B12 serum levels, but not on genetic variants of homocysteine metabolism

  2013cites this paper
• One-Carbon Metabolism, Spermatogenesis, and Male Infertility

  2013cites this paper
• Vitamin C-related nutrient–nutrient and nutrient–gene interactions that modify folate status

  2013cites this paper
• Gene-environment and gene-gene interactions of specific MTHFR, MTR and CBS gene variants in relation to homocysteine in black South Africans.

  2013cites this paper
• Human Primary Tumors Susceptibility to DNA Methylation in Normal Tissues and Germ-Line Variants in Methyl-Group Metabolism Genes and

  2013cites this paper
• Homocysteine metabolism in peripheral blood mononuclear cells: evidence for cystathionine beta-synthase activity in resting state

  2012cites this paper
• Role of polymorphisms in factor V (FV Leiden), prothrombin, plasminogen activator inhibitor type-1 (PAI-1), methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) genes as risk factors for thrombophilias.

  2012cites this paper
• The Association Between Gene Polymorphisms of Homocysteine Metabolism-Related Enzymes and Ischemic Cerebrovascular Diseases in Chinese Henan Han population

  2012cites this paper
• Genetic aspects of folate metabolism.

  2012cites this paper
• Cardiovascular disease in India.

  2012cites this paper
• Abnormal Folate Metabolism and Maternal Risk for Down Syndrome

  2011cites this paper
• Cystathionine β-synthase 844ins68 Genetic Polymorphism in Spontaneous Abortion Susceptibility

  2011cites this paper
• Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk

  2011cites this paper
• Gene Polymorphisms and Low Dietary Intake of Micronutrients in Coronary Artery Disease

  2011cites this paper
• The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease

  2011cites this paper
• Association Between MTHFR 1298A>C Polymorphism and Spontaneous Abortion with Fetal Chromosomal Aneuploidy

  2011cites this paper
• A novel 110-bp insertion in a patient with homocysteinuria bir hastada ilk kez tanimlanan 110 BÇ'lik insersiyon

  2011cites this paper
• High consumption of Ω-3 polyunsaturated fatty acids decrease plasma homocysteine: a meta-analysis of randomized, placebo-controlled trials.

  2011cites this paper
• Does genetic polymorphisms affect health

  2011cites this paper
• Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.

  2011cites this paper
• The Effects of Methotrexate and Genetic Polymorphisms on the Folate/Homocysteine Pathway

  2011cites this paper
• Prevalence of cystathionine beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects in eastern India.

  2011influential citation
• A novel 110-bp insertion in a patient with homocysteinuria.

  2011cites this paper
• The Allele Frequencies of Three Polymorphisms in Genes Involved in Homocysteine Metabolism in a Group of Unrelated Healthy Singaporeans

  2010cites this paper
• The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk – a case-control analysis

  2010cites this paper
• One-Carbon Metabolism and Alzheimer’s Disease: Focus on Epigenetics

  2010cites this paper
• MTRR A66G como um fator de risco para transtornos do espectro autista em uma amostra do sul do Brasil

  2010cites this paper
• Hyperhomocysteinemia and thrombophilia

  2010cites this paper
• The association between specific genetic, demographic and lifestyle factors related to homocysteine concentrations in black South Africans undergoing an epidemiological transition

  2010cites this paper
• G runs in cystathionine beta-synthase c.833C/c.844_845ins68 mRNA are splicing silencers of pathogenic 3' splice sites.

  2010cites this paper
• ANENCEPHALY-EXENCEPHALY SEQUENCE AND CONGENITAL DIAPHRAGMATIC HERNIA IN A FETUS WITH 46,XX KARYOTYPE: Early Prenatal Diagnosis, Necropsy, and Maternal Folate Pathway Genetic Analysis

  2010cites this paper
• High homocysteine levels predict the recurrence of atrial fibrillation after successful electrical cardioversion.

  2010cites this paper
• Single Nucleotide Polymorphisms That Affect Homocysteine Levels in Turkish Population

  2009cites this paper
• Genetic and environmental factors for hyperhomocysteinaemia and its clinical implications in Parkinson's disease.

  2009cites this paper
• The 844ins68 polymorphism of the cystathionine beta-synthase gene is associated with schizophrenia.

  2009cites this paper
• Polygenic association with total homocysteine in the post-folic acid fortification era: the CARDIA study.

  2009cites this paper
• Polymorphism of genes encoding homocysteine metabolism-related enzymes and risk for cardiovascular disease.

  2009cites this paper
• The complex relationship between folate/homocysteine metabolism and risk of Down syndrome.

  2009cites this paper
• Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene

  2009influential citation
• Genetic epidemiology of homocysteine and related diseases

  2009cites this paper
• Correlation between cystathionine beta synthase gene polymorphisms, plasma homocysteine and idiopathic mental retardation in Indian individuals from Kolkata.

  2009cites this paper
• Homocystinuria due to cystathionine beta synthase deficiency.

  2008cites this paper
• Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: Association with polymorphisms in the MTHFR and MTRR genes in Brazilian children

  2008cites this paper
• DNA methylation and sensitivity to antimetabolites in cancer cell lines.

  2008cites this paper
• ASSOCIAÇÃO DE POLIMORFISMOS NOS GENES DA METILENOTETRAHIDROFOLATO REDUTASE, METIONINA SINTASE, CISTATIONINA BETA-SINTETASE E MICRONUTRIENTES RELACIONADOS À VIA METABÓLICA DA HOMOCISTEÍNA EM MÃES E RECÉM-NASCIDOS DO ESTADO DA BAHIA

  2008cites this paper
• Análisis de las frecuencias de todas las combinaciones genotípicas de 4 polimorfismos de genes implicados en el ciclo del folato en la población española

  2008cites this paper
• Influence of the cystathionine β-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations

  2008cites this paper
• Polymorphisms in methionine synthase (A2756G) and cystathionine β-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract

  2008cites this paper
• Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank.

  2008cites this paper
• [Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population].

  2008cites this paper
• Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine β‐synthase gene in great apes

  2008cites this paper
• Homocysteine concentrations and molecular analysis in patients with congenital heart defects.

  2007cites this paper
• Genetic and Dietary Determinants of Homocysteine in Relation to Bone Health

  2007cites this paper
• Molecular genetic analysis of hyperhomocysteinemia.

  2007cites this paper
• Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

  2006influential citation
• Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study

  2006cites this paper
• Effect of cystathionine beta-synthase variant 844ins68bp and methylenetetrahydrofolate reductase A1298C polymorphisms in xenografts on 5-FU efficacy and doubling time.

  2006cites this paper
• Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview

  2006cites this paper
• Homocisteína y polimorfismos de cistationina b sintasa y metilentetrahidrofolato reductasa en población sana de Colombia.

  2006cites this paper
• Behavioral and Brain Functions

  2006influential citation
• Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine beta-synthase gene.

  2005cites this paper
• the NCI 60 Panel of Human Cancer Cell Lines Expression Profiling of Homocysteine Junction Enzymes in

  2005cites this paper
• Cystathionine beta‐synthase c.844ins68 gene variant and non‐syndromic cleft lip and palate

  2005cites this paper
• Freqüência da mutação 844ins68 do gene da cistationina beta-sintetase em pacientes com trombose venosa profunda

  2005cites this paper
• The influence of genetic and environmental factors on plasma homocysteine concentrations in a population at high risk for coronary artery disease

  2005cites this paper
• Expression profiling of homocysteine junction enzymes in the NCI60 panel of human cancer cell lines.

  2005cites this paper
• Expression Profiling of Homocysteine Junction Enzymes in the NCI 60 Panel of Human Cancer Cell

  2005cites this paper
• Relevance of post‐methionine homocysteine and lipoprotein (a) in evaluating the cardiovascular risk in young CAD patients

  2005cites this paper