SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR–IRX transcription factor signaling axis
Perla S, Stiegler A, Yi J, Enyenihi L, Zhang L, Riaz M, An E, Qyang Y, Boggon T, Bennett A. SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR–IRX transcription factor signaling axis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2503631122. PMID: 40854126, PMCID: PMC12415285, DOI: 10.1073/pnas.2503631122.Peer-Reviewed Original ResearchConceptsKnock-in mutationSH2 domainGenetic variantsSH2 domains of SHP2Iroquois homeoboxBinding to SHP2NSML miceProtein tyrosine phosphataseHypertrophic cardiomyopathyExpression levelsPhosphorylation-deficientProtein expressionCellular SrcTranscription factor 3Tyrosine phosphataseSHP2Protein zeroRare autosomal dominant disorderLow-dose dasatinibAutosomal dominant disorderPostnatal cardiac growthExpression of Irx3Signaling AxisIRX3Factor 3
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