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Year Number of Results
1999 2
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117 results
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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. ...Twen …
Because a number of data studies include some controversial results about Methylenetetrahydrofolate reductase (MTHFR) p …
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
Mutations in folate pathway genes, and particularly in the methylenetetrahydrofolate reductase (MTHFR) one, have been often associated with maternal risk for a DS birth as well as with risk of dementia in the elderly. Recent studies pointed out that also chan …
Mutations in folate pathway genes, and particularly in the methylenetetrahydrofolate reductase (MTHFR) one, have been o …
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.
Methylene Tetrahydrofolate Reductase (MTHFR) is one of the major enzymes of the folate metabolism pathway. MTHFR gene polymorphism has been associated with maternal risk for DS. ...
Methylene Tetrahydrofolate Reductase (MTHFR) is one of the major enzymes of the folate metabolism pathway. MTHFR gene p …
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 polymorphisms …
BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best-known i …
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. ...The results contradict the validity of research on polymorphisms of the MTHFR gene as potential predisposing factors for the occurrence of trisomy 21 in children....
BACKGROUND: Down syndrome (DS) is the most frequent cause of intellectual disability. ...The results contradict the validity of resea …
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 MTRR an …
Polymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR C677T) and m …
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 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 reliable pred …
Here, we highlight associations between SNPs in several important enzymes involved in the one-carbon folate metabolic pathway and the elevat …
MTHFR Gene variants C677T, A1298C and association with Down syndrome: A Case-control study from South India.
Cyril C, Rai P, Chandra N, Gopinath PM, Satyamoorthy K. Cyril C, et al. Indian J Hum Genet. 2009 May;15(2):60-4. doi: 10.4103/0971-6866.55217. Indian J Hum Genet. 2009. PMID: 20680153 Free PMC article.
BACKGROUND: The 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and low folate levels are associated with inhibition of DNA methyltransferase and consequently DNA hypomethylation. ...A similar frequency for the uncommon allele C of the second p …
BACKGROUND: The 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and low folate levels are associated wit …
Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome.
Kohli U, Arora S, Kabra M, Ramakrishnan L, Gulati S, Pandey RM. Kohli U, et al. Downs Syndr Res Pract. 2008 Oct;12(2):133-7. doi: 10.3104/reports.2004. Downs Syndr Res Pract. 2008. PMID: 19026285 Free article.
Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADP …
Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of the …
Vitamin D3 increases the Caspase-3 p12, MTHFR, and P-glycoprotein reducing amyloid-β42 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
AIMS: Renal dysfunction has been reported in individuals with Down syndrome (DS); however, the causes and mechanisms involved remain unknown. ...We evaluated the effects of vitamin D(3) (VD(3)) supplementation on morphofunctional aspects and the repercussions on the presen …
AIMS: Renal dysfunction has been reported in individuals with Down syndrome (DS); however, the causes and mechanisms involved remain …
117 results