ReviewDisease models & mechanisms2022
The RASopathies: from pathogenetics to therapeutics.
Review in Disease models & mechanisms, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it, 164 citations in OpenAlex.
- Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.Frontiers in pediatrics · 2025Pooled it
- Influence of histopathologic type of hippocampal sclerosis on neuropsychological profile.Epilepsia · 2026Article
- The 9th International RASopathies Symposium.American journal of medical genetics. Part A · 2026Article
- Impact of RASopathy subtype on the early disease course of RASopathy-associated hypertrophic cardiomyopathy: clinical outcomes and genetic insights.Pediatric research · 2026Article
- K-Ras controls asymmetric cell divisions from the primary cilium.Cell death & disease · 2026Article
- Application of next-generation sequencing in nonimmune hydrops fetalis and its impact on pregnancy decisions.BMC pregnancy and childbirth · 2026Article
- Protein lipidation in cardiovascular homeostasis, development, and disease.Clinical science (London, England : 1979) · 2026Review
- Restoring the 14-3-3/CRAF regulatory interaction in Noonan syndrome using molecular glues.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.Orphanet journal of rare diseases · 2026Article
- Severe Thrombocytopenia and Facial Asymmetry in a Mexican Patient with Noonan Syndrome-Like Disorder with Loose Anagen Hair: Clinical Observations and Diagnostic Considerations.Molecular syndromology · 2026Article
- Review
- Neonatal Noonan syndrome with acute kidney injury and systemic capillary leak syndrome caused by aFrontiers in pediatrics · 2026Article
- Cyclopeptide 161 protects human dermal fibroblasts against UV-induced damage via the MEK1/2-ERK1/2 signaling pathway.Frontiers in physiology · 2026Article
- Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.Pediatric research · 2025Review
- Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.Journal of clinical immunology · 2025Article
- Irritability in children with RASopathies, insights into emotional dysregulation and social impairment.European child & adolescent psychiatry · 2025Article
- An in vitro BRAF activation assay elucidates molecular mechanisms driving disassembly of the autoinhibited BRAF state.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Noonan syndrome withTranslational pediatrics · 2025Article
- Subcortical shape alterations in children with Noonan syndrome spectrum: insights into genotype-phenotype associations.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- RAS/ERK signaling and PLK1: Coordinating developmental regulation and disease mechanisms.Current opinion in cell biology · 2025Review
18 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and Legius syndrome, among others, have overlapping clinical features due to RAS/MAPK dysfunction. Although several of the RASopathies are very rare, collectively, these disorders are relatively common. In this Review, we discuss the pathogenesis of the RASopathy-associated genetic variants and the knowledge gained about RAS/MAPK signaling that resulted from studying RASopathies. We also describe the cell and animal models of the RASopathies and explore emerging RASopathy genes. Preclinical and clinical experiences with targeted agents as therapeutics for RASopathies are also discussed. Finally, we review how the recently developed drugs targeting RAS/MAPK-driven malignancies, such as inhibitors of RAS activation, direct RAS inhibitors and RAS/MAPK pathway inhibitors, might be leveraged for patients with RASopathies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.