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

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

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Article in Human cell, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed

0.3field-weighted citation impact, top 40% of its field

1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).Molecular biology reports · 2023
Article
Association of TP53 rs1042522 G > C, MDM2 rs2279744 T > G, and miR-34b/c rs4938723 T > C polymorphisms with aneuploidy pregnancy susceptibility.BMC pregnancy and childbirth · 2023
Article

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5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Michele Salemi *Oasi Research Institute-IRCCS, Troina, EN, Italy. micezia@tiscali.it.ORCID http://orcid.org/0000-0003-1075-8993

Maria Grazia Salluzzo *Oasi Research Institute-IRCCS, Troina, EN, Italy.

Concetta BaroneOasi Research Institute-IRCCS, Troina, EN, Italy.

Corrado RomanoOasi Research Institute-IRCCS, Troina, EN, Italy.

Oasi Maria SS · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 polymorphism was detected by pyrosequencing technology. The distribution of MDM2-410T-G polymorphism showed no significant difference among mothers of subjects with DS and controls. Our results suggest that MDM2 -410T-G polymorphism is not a risk factor for DS in mothers.

Indexed as

MothersAneuploidyCase-Control StudiesDown SyndromeFemaleHigh-Throughput Nucleotide SequencingHumansNegative ResultsPolymorphism, Single NucleotideProto-Oncogene Proteins c-mdm2Risk FactorsMDM2 protein, humanProto-Oncogene Proteins c-mdm2Down syndromeIntellectual disabilityMDM2-410T-G polymorphismPyrosequencingRisk factor

Identifiers

PMID32424731

DOI10.1007/s13577-020-00374-2

OpenAlexW3026225336

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.