The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects
F Coppedè - Frontiers in genetics, 2015 - frontiersin.org
Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes
involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions …
involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions …
Involvements of hyperhomocysteinemia in neurological disorders
Homocysteine (HCY), a physiological amino acid formed when proteins break down, leads
to a pathological condition called hyperhomocysteinemia (HHCY), when it is over a definite …
to a pathological condition called hyperhomocysteinemia (HHCY), when it is over a definite …
The complex relationship between folate/homocysteine metabolism and risk of Down syndrome
F Coppedè - Mutation Research/Reviews in Mutation Research, 2009 - Elsevier
Folates are essential nutrients that are required for one-carbon biosynthetic and epigenetic
processes. A deficiency in cellular folates results in aberrant DNA methylation, point …
processes. A deficiency in cellular folates results in aberrant DNA methylation, point …
Polymorphisms in genes involved in folate metabolism and orofacial clefts
L Bhaskar, J Murthy, GV Babu - Archives of oral biology, 2011 - Elsevier
BACKGROUND: Orofacial clefts (OFCs) are one of the most common birth defects in
humans. Maternal use of folate antagonists including dihydrofolate reductase inhibitors has …
humans. Maternal use of folate antagonists including dihydrofolate reductase inhibitors has …
[HTML][HTML] Simultaneous quantitation of folic acid and 5-methyltetrahydrofolic acid in human plasma by HPLC–MS/MS and its application to a pharmacokinetic study
XH Zheng, LY Jiang, LT Zhao, QY Zhang… - Journal of Pharmaceutical …, 2015 - Elsevier
A sensitive method based on high-performance liquid chromatography–tandem mass
spectrometry (LC–MS/MS) has been developed for the simultaneous determination of folic …
spectrometry (LC–MS/MS) has been developed for the simultaneous determination of folic …
Maternal risk for Down syndrome is modulated by genes involved in folate metabolism
Studies have shown that the maternal risk for Down syndrome (DS) may be modulated by
alterations in folate metabolism. The aim of this study was to evaluate the influence of 12 …
alterations in folate metabolism. The aim of this study was to evaluate the influence of 12 …
[HTML][HTML] Association of TCN2 rs1801198 c. 776G> C polymorphism with markers of one-carbon metabolism and related diseases: a systematic review and meta …
A Oussalah, J Levy, P Filhine-Trésarrieu… - The American Journal of …, 2017 - Elsevier
ABSTRACT Background Vitamin B-12 (cobalamin) deficiency may produce severe
neurologic and hematologic manifestations. Approximately 20–25% of circulating cobalamin …
neurologic and hematologic manifestations. Approximately 20–25% of circulating cobalamin …
Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome
N Fintelman-Rodrigues, JC Corrêa… - Disease …, 2009 - content.iospress.com
Recent evidence shows that almost 92% of the DS children are born from young mothers,
suggesting that other risk factors than advanced maternal age must be involved. In this …
suggesting that other risk factors than advanced maternal age must be involved. In this …
The Reduced Folate Carrier (RFC-1) 80A>G Polymorphism and Maternal Risk of Having a Child with Down Syndrome: A Meta-Analysis
F Coppedè, V Lorenzoni, L Migliore - Nutrients, 2013 - mdpi.com
A common polymorphism (c. 80A> G) in the gene coding for the reduced folate carrier
(SLC19A1, commonly known as RFC-1) has been associated with maternal risk of the birth …
(SLC19A1, commonly known as RFC-1) has been associated with maternal risk of the birth …
MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk
LMRB da Silva, ALS Galbiatti, MT Ruiz… - Molecular biology …, 2012 - Springer
Alterations in folate metabolism may contribute to the process of carcinogenesis by
influencing DNA methylation and genomic stability. Polymorphisms in genes encoding …
influencing DNA methylation and genomic stability. Polymorphisms in genes encoding …