Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects.

doi:10.1007/s13577-020-00374-2

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects.

Human cell - 1 Jul 2020

Salemi Michele, Salluzzo Maria Grazia, Barone Concetta, Romano Corrado

Abstract excerpt

Trisomy 21 or Down syndrome (DS) is the most frequent genetic etiology of intellectual disability in humans. MDM2 gene expression has a potential role as a risk factor for human aneuploidy. -410T-G (rs2279744) functional polymorphism in MDM2 gene impacts on the mechanisms of chromosomal non-disjunction. We analyzed, within a case-control study, such polymorphism in mothers of subjects with DS. Nucleotide...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aneuploidy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Case-Control Studies

Share to Down Syndrome

Share to High-Throughput Nucleotide Sequencing

Share to Mothers

Share to Polymorphism, Single Nucleotide

Share to Proto-Oncogene Proteins c-mdm2

Share to Risk Factors

Source

Open in PubMed

Identifiers

PMID: 32424731
DOI: 10.1007/s13577-020-00374-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects.PMID 32424731Read ↗

A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers.Semantic proximity Read ↗

BHMT G742A and MTHFD1 G1958A polymorphisms and Down syndrome risk in the Brazilian population.Semantic proximity Read ↗

Maternal SNPs in the p53 pathway: risk factors for trisomy 21?Semantic proximity Read ↗

Exploratory investigation on functional significance of ETS2 and SIM2 genes in Down syndrome.Semantic proximity Read ↗

Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.Semantic proximity Read ↗

Meta-analysis of Methylenetetrahydrofolate reductase maternal gene in Down syndrome: increased susceptibility in women carriers of the MTHFR 677T allele.Semantic proximity Read ↗

Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies.Semantic proximity Read ↗

Betaine-homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population.Semantic proximity Read ↗

MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers.Semantic proximity Read ↗

Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women.Semantic proximity Read ↗

Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis.Semantic proximity Read ↗

Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.