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Article

Maternal SNPs in the p53 pathway: risk factors for trisomy 21?

Disease markers - 1 Jan 2013

Boquett Juliano André, Brandalize Ana Paula Carneiro, Fraga Lucas Rosa, Schuler-Faccini Lavínia

Abstract excerpt

The p53 family and its regulatory pathway play an important role as regulators of developmental processes, limiting the propagation of aneuploid cells. Its dysfunction or imbalance can lead to pathological abnormalities in humans. The aim of this study was to evaluate the effect of maternal polymorphisms TP53 c.215G>C (P72R), TP73 4 c.-30G>A and 14 c.-20C>T, MDM2 c.14+309T>G (SNP309), MDM4 c.753+572C>T and USP7...

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Source

Open in PubMed Open full text

Identifiers

PMID: 23089923
DOI: 10.3233/DMA-2012-00937
PMCID: PMC3809983

Genes

MDM2
USP7
MDM4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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