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 …

Concentrations of blood folate in Brazilian studies prior to and after fortification of wheat and cornmeal (maize flour) with folic acid: a review

JC Britto, R Cançado, EM Guerra-Shinohara - Revista brasileira de …, 2014 - Elsevier
Abstract Background In July 2004, the Brazilian Ministry of Health through the National
Health Surveillance Agency made the fortification of wheat flour and cornmeal (maize flour) …

Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome

GH Marucci, BL Zampieri, JM Biselli, S Valentin… - Molecular biology …, 2012 - Springer
Recent researches have investigated the factors that determine the maternal risk for Down
syndrome (DS) in young woman. In this context, some studies have demonstrated the …

One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome

CC Mendes, BL Zampieri, LMRB Arantes… - Human cell, 2021 - Springer
Down syndrome (DS) is the most common chromosomal disorder, resulting from the failure
of normal chromosome 21 segregation. Studies have suggested that impairments within the …

DHFR 19-bp Deletion and SHMT C1420T Polymorphisms and Metabolite Concentrations of the Folate Pathway in Individuals with Down Syndrome

CC Mendes, AMZA Raimundo, LD Oliveira… - Genetic testing and …, 2013 - liebertpub.com
Background: Down syndrome (DS) results from the presence and expression of three copies
of the genes located on chromosome 21. Studies have shown that, in addition to …

Abnormal folate metabolism and maternal risk for Down Syndrome

ÉC Pavarino, BL Zampieri, JM Biselli… - Genetics and Etiology …, 2011 - books.google.com
Down syndrome (DS) or trisomy 21 (MIM 190685) is the most common genetic disorder with
a prevalence of 1 in 660 live births (Jones, 2006). DS is the leading cause of …

Maternal age and oocyte aneuploidy: lessons learned from trisomy 21

SL Sherman, EG Allen, LJH Bean - Biennial Review of Infertility: Volume 3, 2013 - Springer
Trisomy 21, the common chromosomal abnormality leading to Down syndrome, has become
an important model for human chromosome nondisjunction. Here we review studies of the …

Dihydrofolate Reductase (DHFR) del19bp Polymorphism and Down Syndrome Offspring

MA Costa-Lima, HN Barboza, J Aprigio… - Journal of Molecular …, 2020 - Springer
Down syndrome (DS) is the most common form of mental disability of genetic etiology.
Nondisjunction of chromosome 21 is the leading cause of the syndrome. In general, free …

[图书][B] Maternal one-carbon nutrient status and effects on DNA methylation and hydroxymethylation in newborn infants

LA Plumptre - 2016 - search.proquest.com
DNA methylation is an important epigenetic determinant in gene expression, aberrancies of
which are mechanistically related to the development of several diseases. During …

Análise e comparação do perfil antropométrico e postural de adolescentes com síndrome de down

MTA Prado, A da Silva Oliveira… - … Vitae. ISSN: 1984 …, 2015 - revistas.unoeste.br
O objetivo deste estudo foi analisar e comparar o perfil antropométrico e postural de
adolescentes com Síndrome de Down (SD). A amostra foi composta por 36 indivíduos …