{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ferrito N"],"funding":["SEPE","University of Salamanca (USAL)","Banco Santander","European Union—NextGenerationEU","Fundación Alicia Koplowitz","Alicia Koplowitz Foundation"],"pagination":["8563"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11354534"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(16)"],"pubmed_abstract":["RASopathies are a group of related genetic disorders caused by mutations in genes within the RAS/MAPK signaling pathway. This pathway is crucial for cell division, growth, and differentiation, and its disruption can lead to a variety of developmental and health issues. RASopathies present diverse clinical features and pose significant diagnostic and therapeutic challenges. Studying the landscape of biomarkers in RASopathies has the potential to improve both clinical practices and the understanding of these disorders. This review provides an overview of recent discoveries in RASopathy molecular profiling, which extend beyond traditional gene mutation analysis. mRNAs, non-coding RNAs, protein expression patterns, and post-translational modifications characteristic of RASopathy patients withi"],"journal":["International journal of molecular sciences"],"pubmed_title":["Biomarker Landscape in RASopathies."],"pmcid":["PMC11354534"],"funding_grant_id":["FAK21/001"],"pubmed_authors":["Rodriguez-Martin M","Lacal J","Prieto-Matos P","Baez-Flores J","Sastre-Rodriguez J","Ferrito N","Coppola A","Isidoro-Garcia M"],"additional_accession":[]},"is_claimable":false,"name":"Biomarker Landscape in RASopathies.","description":"RASopathies are a group of related genetic disorders caused by mutations in genes within the RAS/MAPK signaling pathway. This pathway is crucial for cell division, growth, and differentiation, and its disruption can lead to a variety of developmental and health issues. RASopathies present diverse clinical features and pose significant diagnostic and therapeutic challenges. Studying the landscape of biomarkers in RASopathies has the potential to improve both clinical practices and the understanding of these disorders. This review provides an overview of recent discoveries in RASopathy molecular profiling, which extend beyond traditional gene mutation analysis. mRNAs, non-coding RNAs, protein expression patterns, and post-translational modifications characteristic of RASopathy patients withi","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Aug","modification":"2026-04-08T19:41:17.513Z","creation":"2025-04-06T13:47:35.228Z"},"accession":"S-EPMC11354534","cross_references":{"pubmed":["39201250"],"doi":["10.3390/ijms25168563"]}}