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 …
Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility
RA Jackson, ML Nguyen, AN Barrett, YY Tan… - Cellular and molecular …, 2016 - Springer
Single nucleotide polymorphisms (SNPs) are important biomolecular markers in health and
disease. Down syndrome, or Trisomy 21, is the most frequently occurring chromosomal …
disease. Down syndrome, or Trisomy 21, is the most frequently occurring chromosomal …
Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems
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 …
associated with various levels of cognitive deficit. Folate/vitamin B 9 is crucial for numerous …
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 …
been hypothesised to affect breast cancer risk. Functional polymorphisms in genes …
Predicting the functional and structural consequences of nsSNPs in human methionine synthase gene using computational tools
M Desai, JB Chauhan - Systems Biology in Reproductive Medicine, 2019 - Taylor & Francis
Methionine synthase encoded by the MTR gene is one of the key enzymes involved in the
SAM (S-Adenosyl Methionine) cycle catalyzing the conversion of homocysteine to …
SAM (S-Adenosyl Methionine) cycle catalyzing the conversion of homocysteine to …
Choline metabolic pathway gene polymorphisms and risk for Down syndrome: an association study in a population with folate-homocysteine metabolic impairment
SK Jaiswal, KK Sukla, A Chauhan… - European journal of …, 2017 - nature.com
Results: A significantly increased risk for BHMT+ 742AA genotype with an odds ratio of 4.96
(95% confidence interval (CI): 1.66–14.88, P= 0.0036) was observed. For PEMT rs12325817 …
(95% confidence interval (CI): 1.66–14.88, P= 0.0036) was observed. For PEMT rs12325817 …
Betaine–homocysteine methyltransferase 742G> A polymorphism and risk of down syndrome offspring in a Brazilian population
Down syndrome (DS) is the most common form of mental retardation of genetic etiology.
Several polymorphisms in genes involved with the folic acid cycle have been associated to …
Several polymorphisms in genes involved with the folic acid cycle have been associated to …
Acute lymphoblastic leukemia and genetic variations in BHMT gene: Case-control study and computational characterization
R Bellampalli, M Vohra, K Sharma… - Cancer …, 2017 - content.iospress.com
BACKGROUND: Remethylation of homocysteine is catalyzed by B12 dependent methionine
synthase (MTR) in all types of cells and by B12 non-dependent betaine homocysteine …
synthase (MTR) in all types of cells and by B12 non-dependent betaine homocysteine …
Молекулярно-генетические нарушения генов фолатного и гомоцистеинового обмена в патогенезе ряда многофакторных заболеваний
АМ Бурдённый, ВИ Логинов, ТМ Заварыкина… - Генетика, 2017 - elibrary.ru
В процессы фолатного и гомоцистеинового обмена вовлечено большое число генов,
молекулярногенетические нарушения в которых представляют факторы риска …
молекулярногенетические нарушения в которых представляют факторы риска …
[PDF][PDF] Association of genetic polymorphisms in genes involved at the branch point of nucleotide biosynthesis and remethylation with down syndrome birth risk: a case …
DNA methylation and nucleic acid biosynthesis are two crucial phenomena for normal
chromosomes segregation. From our earlier studies, MTHFR 677T individually and in …
chromosomes segregation. From our earlier studies, MTHFR 677T individually and in …