Associated Papers
Examination of Genetic and Epigenetic Characteristics of Patients with Hyperhomocysteinemia Following High-Dose Folic Acid Consumption.
Bartak BK et al.
Nutrients, 2025
A narrative review on the role of folate-mediated one-carbon metabolism and its associated gene polymorphisms in posing risk to preeclampsia.
Mahmood S et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 2021
An Example of Personalized Treatment in HR+ HER2+ Long Survivor Breast Cancer Patient (Case Report).
Panebianco M et al.
Current Oncology (toronto, Ont.), 2021
Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?
Tisato V et al.
Genes, 2021
Hyperhomocysteinemia is an emerging comorbidity in ischemic stroke.
Poddar R
Experimental Neurology, 2021
Drug-Drug Interactions and Pharmacogenomic Evaluation in Colorectal Cancer Patients: The New Drug-PIN® System Comprehensive Approach.
Roberto M et al.
Pharmaceuticals (basel, Switzerland), 2021
Genes and genetics in hyperhomocysteinemia and the "1-carbon metabolism": implications for retinal structure and eye functions.
George AK et al.
Canadian Journal of Physiology and Pharmacology, 2020
Cystathionine β-synthase and methylenetetrahydrofolate reductase mutations in Mexican individuals with hyperhomocysteinemia.
Figueroa-Torres AG et al.
Sage Open Medicine, 2020
Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage.
Hendrix P et al.
Journal of Neurosurgery, 2018
The role of the folate pathway in pancreatic cancer risk.
Chittiboyina S et al.
Plos One, 2018
Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.
Goffinet L et al.
Journal of Medical Genetics, 2016
Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
Silao CL et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Association between SNPs in genes involved in folate metabolism and preterm birth risk.
Wang BJ et al.
Genetics and Molecular Research : Gmr, 2015
CBS c.844ins68 Polymorphism Frequencies in Control Populations: Implications on Nonsyndromic Cleft Lip With or Without Cleft Palate.
Murthy J et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2015
Plasma homocysteine levels and genetic polymorphisms in folate metablism are associated with breast cancer risk in chinese women.
Wu X et al.
Hereditary Cancer in Clinical Practice, 2014
Association of SNPs in genes involved in folate metabolism with the risk of congenital heart disease.
Wang B et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2013
Folate-genetics and colorectal neoplasia: what we know and need to know next.
Figueiredo JC et al.
Molecular Nutrition & Food Research, 2013
Polymorphisms in genes involved in folate metabolism and orofacial clefts.
Bhaskar LV et al.
Archives of Oral Biology, 2011
Gain-of-function polymorphisms of cystathionine β-synthase and delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage.
Grobelny BT et al.
Journal of Neurosurgery, 2011
Association of genetic variation in cystathionine-beta-synthase and arsenic metabolism.
Porter KE et al.
Environmental Research, 2010
A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria.
Sirachainan N et al.
Journal of Pediatric Hematology/oncology, 2009
Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.
Collin SM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009
Polymorphisms in folate metabolizing enzymes and transport proteins and the risk of breast cancer.
Kotsopoulos J et al.
Breast Cancer Research and Treatment, 2008
Influence of the cystathionine beta-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations.
Summers CM et al.
European Journal of Human Genetics : Ejhg, 2008
Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.
Fredriksen A et al.
Human Mutation, 2007
A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.
Urreizti R et al.
Clinical Biochemistry, 2007
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Vyletal P et al.
Human Mutation, 2007
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R et al.
Journal of Human Genetics, 2006
Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies.
Also-Rallo E et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2005
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
Lee SJ et al.
Journal of Human Genetics, 2005
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Orendáè M et al.
Human Mutation, 2004
Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
De Lucca M et al.
Molecular Genetics and Metabolism, 2004
High-level multiplex genotyping of polymorphisms involved in folate or homocysteine metabolism by matrix-assisted laser desorption/ionization mass spectrometry.
Meyer K et al.
Clinical Chemistry, 2004
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Urreizti R et al.
Human Mutation, 2003
Genetics of hyperhomocysteinaemia in cardiovascular disease.
Lievers KJ et al.
Annals of Clinical Biochemistry, 2003
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Gaustadnes M et al.
Human Mutation, 2002
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
Janosík M et al.
American Journal of Human Genetics, 2001
Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12.
Linnebank M et al.
Human Mutation, 2001
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Linkage disequilibrium at the cystathionine beta synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine. The Ears II Group. European Atherosclerosis Research Study.
De Stefano V et al.
Annals of Human Genetics, 1998
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.
Kozich V et al.
Human Molecular Genetics, 1995
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
Kraus JP et al.
Human Molecular Genetics, 1993
Gene-gene and gene-environment interactions in mild hyperhomocysteinemia.
D'Angelo A et al.
Pathophysiology of Haemostasis and Thrombosis, 0
[Homocysteine levels and polymorphisms of MTHFR and CBS genes in Colombian patients with superficial and deep venous thrombosis].
Ayala C et al.
Biomedica : Revista Del Instituto Nacional De Salud, 0