ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2022
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 3 of them syntheses 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
57 citing papers in PubMed, 3 syntheses or guidelines pooled it, 89 citations in OpenAlex.
- Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.International journal of molecular sciences · 2025Pooled it
- Social Communication in Ras Pathway Disorders: A Comprehensive Review From Genetics to Behavior in Neurofibromatosis Type 1 and Noonan Syndrome.Biological psychiatry · 2025Pooled it
- Abnormalities of pubertal development and gonadal function in Noonan syndrome.Frontiers in endocrinology · 2023Pooled it
- Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.Clinical genetics · 2026Article
- Excessive activation of the RAS/MAPK pathway triggers adult-onset motor axonal degeneration.iScience · 2026Article
- Targeting Interleukin-8-Mediated Cellular Crosstalk Reverses Hypertrophic Cardiomyopathy and Cardiac Fibrosis in Noonan Syndrome.Circulation · 2026Article
- Clinical consensus guidelines for the management of Noonan syndrome in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Article
- 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
- Application of next-generation sequencing in nonimmune hydrops fetalis and its impact on pregnancy decisions.BMC pregnancy and childbirth · 2026Article
- Review
- Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.Molecular syndromology · 2026Article
- Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.European journal of human genetics : EJHG · 2026Article
- Familial short stature: genetic architecture, risk stratification, and precision management.Frontiers in endocrinology · 2026Review
- Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.Journal of genetics · 2026Article
- Review
- Noonan Syndrome, Cancer Risk, and Growth Hormone TreatmentJournal of clinical research in pediatric endocrinology · 2025Review
- Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.Breast (Edinburgh, Scotland) · 2025Article
- Expanding the Genetic Landscape of RASopathies: Significance of IncludingMolecular syndromology · 2025Article
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 3 institutions in 3 countries.
Funding
Abstract
Enhanced signaling through RAS and the mitogen-associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS-MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively controlling RAS function or favoring the efficient transmission of RAS signaling to downstream transducers, functional upregulation of RAS effectors belonging to the MAPK cascade, or inefficient signaling switch-off operated by feedback mechanisms acting at different levels. The massive effort in RASopathy gene discovery performed in the last 20 years has identified more than 20 genes implicated in these disorders. It has also facilitated the characterization of several molecular activating mechanisms that had remained unappreciated due to their minor impact in oncogenesis. Here, we provide an overview on the discoveries collected during the last 5 years that have delivered unexpected insights (e.g., Noonan syndrome as a recessive disease) and allowed to profile new RASopathies, novel disease genes and new molecular circuits contributing to the control of RAS-MAPK signaling.
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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.