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Article

Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.

PLoS genetics - 1 Mar 2017

Altmüller Franziska, Pothula Santosh, Annamneedi Anil, Nakhaei-Rad Saeideh, Montenegro-Venegas Carolina, Pina-Fernández Eneko, Marini Claudia, Santos Monica, Schanze Denny, Montag Dirk, Ahmadian Mohammad R, Stork Oliver, Zenker Martin, Fejtova Anna

Abstract excerpt

Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS...

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Identifiers

PMID: 28346493
DOI: 10.1371/journal.pgen.1006684
PMCID: PMC5386306

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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