DNA damage in preimplantation embryos and gametes: specification, clinical relevance and repair strategies

R Musson, Ł Gąsior, S Bisogno… - Human Reproduction …, 2022 - academic.oup.com
BACKGROUND DNA damage is a hazard that affects all cells of the body. DNA-damage
repair (DDR) mechanisms are in place to repair damage and restore cellular function, as are …

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 …

Association of C677T and A1298C polymorphisms of the MTHFR gene with maternal risk for Down syndrome: A meta-analysis of case-control studies

CTA Ginani, JRD da Luz, KS de Medeiros… - … Research/Reviews in …, 2023 - Elsevier
Background Several studies around the world support the hypothesis that genetic
polymorphisms involved in folate metabolism could be related to the maternal risk for Down …

Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies

V Rai, U Yadav, P Kumar, SK Yadav, OP Mishra - Plos one, 2014 - journals.plos.org
Background Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate
metabolic pathway which catalyzes the irreversible conversion of 5, 10 …

Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis

M Yang, T Gong, X Lin, L Qi, Y Guo, Z Cao… - …, 2013 - academic.oup.com
Down syndrome (DS) is the most common chromosomal abnormality. Many studies have
assessed the association between maternal gene polymorphisms involved in folate …

Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems

T Saha, M Chatterjee, D Verma, A Ray, S Sinha… - Progress in Neuro …, 2018 - Elsevier
An etiologically complex disorder, Attention Deficit Hyperactivity Disorder (ADHD), is often
associated with various levels of cognitive deficit. Folate/vitamin B 9 is crucial for numerous …

[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 …

DNMT3B promoter polymorphisms and maternal risk of birth of a child with Down syndrome

F Coppede, P Bosco, P Tannorella… - Human …, 2013 - academic.oup.com
Abstract STUDY QUESTION Are DNMT3B promoter polymorphisms among maternal risk
factors for the birth of a child with Down syndrome (DS)? SUMMARY ANSWER Present …

Maternal MTHFR polymorphism (677 C–T) and risk of Down's syndrome child: meta-analysis

A Kaur, A Kaur - Journal of genetics, 2016 - Springer
Methylenetetrahydrofolate reductase (MTHFR) is the most important gene that participates in
folate metabolism. Presence of valine instead of alanine at position 677 and elevated levels …

Dietary choline and betaine intake, choline-metabolising genetic polymorphisms and breast cancer risk: a case–control study in China

YF Du, WP Luo, FY Lin, ZQ Lian, XF Mo… - British journal of …, 2016 - cambridge.org
Choline and betaine are essential nutrients involved in one-carbon metabolism and have
been hypothesised to affect breast cancer risk. Functional polymorphisms in genes …