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 …
polymorphisms involved in folate metabolism could be related to the maternal risk for Down …
[HTML][HTML] Drug-targeted genomes: Mutability of ion channels and GPCRs
Mutations of ion channels and G-protein-coupled receptors (GPCRs) are not uncommon and
can lead to cardiovascular diseases. Given previously reported multiple factors associated …
can lead to cardiovascular diseases. Given previously reported multiple factors associated …
Maternal MTHFR 677C>T, 1298A>C gene polymorphisms and risk of offspring aneuploidy
O Miljanović, S Teofilov, M Anđelić, Z Magić… - Prenatal …, 2022 - Wiley Online Library
Objective The objective was to investigate the association between maternal
methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms, crucial for DNA …
methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms, crucial for DNA …
[HTML][HTML] An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester …
K Ziółkowska, K Toboła-Wróbel, M Pietryga… - Journal of Clinical …, 2022 - mdpi.com
Are the maternal gene variants MTHFR: c. 665C> T, MTHFR: c. 1286A> C, MTR: c. 2756A>
G, MTRR: c. 66A> G, RFC1: c. 80C> T and TCN2: c. 776G> C and blood markers of the …
G, MTRR: c. 66A> G, RFC1: c. 80C> T and TCN2: c. 776G> C and blood markers of the …
[HTML][HTML] Association Study of Polymorphisms in Folate Metabolism and Mothers of Down Syndrome Offsprings in the Southwest of Iran
Background: Down syndrome (DS) is a complex genetic disease that is caused by having
three copies of chromosome 21. A possible association between polymorphisms in maternal …
three copies of chromosome 21. A possible association between polymorphisms in maternal …
[HTML][HTML] The Use of Virtual and Computational Technologies in the Psychomotor and Cognitive Development of Children with Down Syndrome: A Systematic …
E Boato, G Melo, M Filho, E Moresi, C Lourenço… - International Journal of …, 2022 - mdpi.com
Individuals with Down syndrome (DS) have numerous comorbidities due to trisomy 21.
However, virtual reality-based therapy (VRT) has been used nowadays as a learning and …
However, virtual reality-based therapy (VRT) has been used nowadays as a learning and …
Полиморфные замены в генах фолатного цикла как предикторы гипергомоцистеинемии
ЛА Строзенко, ВС Пономарев, ЮФ Лобанов… - Российский …, 2024 - rosped.ru
Аннотация Введение. Мутантные аллели генов ферментов фолатного цикла могут
привести к значимым нарушениям его функции и различной тяжести патологии …
привести к значимым нарушениям его функции и различной тяжести патологии …
The Significance of Genetically Determined Methylation and Folate Metabolism Disorders in the Pathogenesis of Coronary Artery Disease: A Target for New Therapies …
A Pietruszyńska-Reszetarska, R Pietruszyński… - 2024 - preprints.org
Methylation is a biochemical process involving the addition of a methyl group (-CH3) to
various chemical compounds. It plays a crucial role in maintaining the homeostasis of the …
various chemical compounds. It plays a crucial role in maintaining the homeostasis of the …
Identification of maternal risk factors for having Down syndrome cases in Jordan
O Batiha, NA Alahmad, H Hammad, R Mresieh… - 2024 - researchsquare.com
Down syndrome (DS) is the leading cause of intellectual disability, yet the factors
contributing to its occurrence remain largely unknown. In this study, we investigated the …
contributing to its occurrence remain largely unknown. In this study, we investigated the …
Congenital heart defects and hypothyroidism in Down syndrome patients with common MTHFR polymorphisms
MTHFR is an essential enzyme in the folate pathway. Down syndrome (DS), which affects 1
in 700 live births, is common chromosomal aneuploidy with documented dysregulation in …
in 700 live births, is common chromosomal aneuploidy with documented dysregulation in …