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Year Number of Results
1999 2
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2008 11
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122 results

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Association of C677T and A1298C polymorphisms of the MTHFR gene with maternal risk for Down syndrome: A meta-analysis of case-control studies.
Ginani CTA, da Luz JRD, de Medeiros KS, Sarmento ACA, Coppedè F, das Graças Almeida M. Ginani CTA, et al. Mutat Res Rev Mutat Res. 2023 Jul-Dec;792:108470. doi: 10.1016/j.mrrev.2023.108470. Epub 2023 Sep 9. Mutat Res Rev Mutat Res. 2023. PMID: 37689109 Review.
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 syndrome (DS). Most of them investigated the role of MTHFR C677T and/or A1298C polymorp …
BACKGROUND: Several studies around the world support the hypothesis that genetic polymorphisms involved in folate metabolism could be relate …
Increased MTHFR promoter methylation in mothers of Down syndrome individuals.
Coppedè F, Denaro M, Tannorella P, Migliore L. Coppedè F, et al. Mutat Res. 2016 May;787:1-6. doi: 10.1016/j.mrfmmm.2016.02.008. Epub 2016 Feb 22. Mutat Res. 2016. PMID: 26926955
Despite that advanced maternal age at conception represents the major risk factor for the birth of a child with Down syndrome (DS), most of DS babies are born from women aging less than 35 years. Studies performed in peripheral lymphocytes of those women revealed se …
Despite that advanced maternal age at conception represents the major risk factor for the birth of a child with Down syndrome …
MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome.
Asim A, Agarwal S, Panigrahi I, Saiyed N, Bakshi S. Asim A, et al. Intractable Rare Dis Res. 2017 Nov;6(4):295-298. doi: 10.5582/irdr.2017.01068. Intractable Rare Dis Res. 2017. PMID: 29259859 Free PMC article.
Altered global methylation levels revealed LINE-1 methylation in young mothers of Down syndrome (DS) compared to controls suggesting the possibility of impaired DNA methylation causing abnormal segregation of chromosome 21. Methylene Tetrahydrofolate Reductase …
Altered global methylation levels revealed LINE-1 methylation in young mothers of Down syndrome (DS) compared to controls sugg …
Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis.
Ginani CTA, Luz JRDD, Silva SVE, Coppedè F, Almeida MDG. Ginani CTA, et al. Medicine (Baltimore). 2022 Jan 21;101(3):e28293. doi: 10.1097/MD.0000000000028293. Medicine (Baltimore). 2022. PMID: 35060496 Free PMC article.
BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best-known intellectual disability disorders in humans. ...CONCLUSIONS: This study will clarify the relationship between C677T and A1298C polymor …
BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best- …
Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population.
Czechowicz P, Małodobra-Mazur M, Lebioda A, Jonkisz A, Dobosz T, Śmigiel R. Czechowicz P, et al. Adv Clin Exp Med. 2020 Feb;29(2):251-256. doi: 10.17219/acem/115078. Adv Clin Exp Med. 2020. PMID: 32073761 Free article.
BACKGROUND: Down syndrome (DS) is the most frequent cause of intellectual disability. In 95% of cases, it is caused by simple trisomy of chromosome 21 resulting from nondisjunction of chromosomes in meiotic division. ...The results contradict the validity of researc …
BACKGROUND: Down syndrome (DS) is the most frequent cause of intellectual disability. In 95% of cases, it is caused by simple …
MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.
Romero-Bolaño YM, Bobadilla-Morales L, Corona-Rivera A, Cuero-Quezada I, Santana-Hernández J, Peña-Padilla C, Brukman-Jiménez A, Orozco-Vela M, Navia-Espinoza N, Corona-Rivera JR. Romero-Bolaño YM, et al. Genet Test Mol Biomarkers. 2024 Jun;28(6):263-266. doi: 10.1089/gtmb.2023.0690. Epub 2024 May 8. Genet Test Mol Biomarkers. 2024. PMID: 38717090
Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene can increase the risk of having a child with DS. ... …
Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A& …
Meta-analysis of Methylenetetrahydrofolate reductase maternal gene in Down syndrome: increased susceptibility in women carriers of the MTHFR 677T allele.
Victorino DB, Godoy MF, Goloni-Bertollo EM, Pavarino EC. Victorino DB, et al. Mol Biol Rep. 2014 Aug;41(8):5491-504. doi: 10.1007/s11033-014-3424-y. Epub 2014 Jun 10. Mol Biol Rep. 2014. PMID: 24913031 Review.
Because a number of data studies include some controversial results about Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and Down syndrome (DS), we performed a meta-analysis to determine a more precise estimation of this association. …
Because a number of data studies include some controversial results about Methylenetetrahydrofolate reductase (MTHFR) p …
Vitamin D(3) increases the Caspase-3 p12, MTHFR, and P-glycoprotein reducing amyloid-beta(42) in the kidney of a mouse model for Down syndrome.
Gomes FC, de Melo-Neto JS, Ferrari MFR, Carlos CP, Goloni-Bertollo EM, Pavarino ÉC. Gomes FC, et al. Life Sci. 2019 Aug 15;231:116537. doi: 10.1016/j.lfs.2019.06.012. Epub 2019 Jun 6. Life Sci. 2019. PMID: 31176774
We evaluated the effects of vitamin D(3) (VD(3)) supplementation on morphofunctional aspects and the repercussions on the presence and localization of Abeta(42), methylenetetrahydrofolate reductase (MTHFR), caspase-3 p12, and P-glycoprotein (Pgp) in the renal …
We evaluated the effects of vitamin D(3) (VD(3)) supplementation on morphofunctional aspects and the repercussions on the presence and local …
Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.
Jackson RA, Nguyen ML, Barrett AN, Tan YY, Choolani MA, Chen ES. Jackson RA, et al. Cell Mol Life Sci. 2016 Nov;73(21):4001-17. doi: 10.1007/s00018-016-2276-0. Epub 2016 May 31. Cell Mol Life Sci. 2016. PMID: 27245382 Free PMC article. Review.
Here, we highlight associations between SNPs in several important enzymes involved in the one-carbon folate metabolic pathway and the elevated maternal risk of having a child with Down syndrome. Our survey highlights that the combination of SNPs may be a more reliab …
Here, we highlight associations between SNPs in several important enzymes involved in the one-carbon folate metabolic pathway and the elevat …
MTRR and MTHFR polymorphism: link to Down syndrome?
O'Leary VB, Parle-McDermott A, Molloy AM, Kirke PN, Johnson Z, Conley M, Scott JM, Mills JL. O'Leary VB, et al. Am J Med Genet. 2002 Jan 15;107(2):151-5. doi: 10.1002/ajmg.10121. Am J Med Genet. 2002. PMID: 11807890
Polymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR C677T) and methionine synthase reductase (MTRR A66G) have been linked to the etiology of Down syndrome. ...Women who have both the …
Polymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR C677T) and m …
122 results