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Article

Urine microRNA Proﬁling Displays miR-125a Dysregulation in Children with Fragile X Syndrome.

Cells - 24 Jan 2020

Putkonen Noora, Laiho Asta, Ethell Doug, Pursiheimo Juha, Anttonen Anna-Kaisa, Pitkonen Juho, Gentile Adriana M, de Diego-Otero Yolanda, Castrén Maija L

Abstract excerpt

A triplet repeat expansion leading to transcriptional silencing of the FMR1 gene results in fragile X syndrome (FXS), which is a common cause of inherited intellectual disability and autism. Phenotypic variation requires personalized treatment approaches and hampers clinical trials in FXS. We searched for microRNA (miRNA) biomarkers for FXS using deep sequencing of urine and identiﬁed 28 differentially regulated...

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Identifiers

PMID: 31991700
DOI: 10.3390/cells9020289
PMCID: PMC7072127

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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.

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