ArticleHuman molecular genetics2016
Pathogenetics of the RASopathies.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04395495 (Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.), which is not on this map. Cited by 70 papers, 4 of them syntheses that pooled it.
What it found
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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.
Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.
Who cites it
70 citing papers in PubMed, 4 syntheses or guidelines pooled it, 118 citations in OpenAlex.
- Autism spectrum disorder profiles in RASopathies: A systematic review.Molecular genetics & genomic medicine · 2024Pooled it
- Cancer in Costello syndrome: a systematic review and meta-analysis.British journal of cancer · 2023Pooled it
- Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.Nature genetics · 2020Pooled it
- ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.Clinical genetics · 2026Article
- Article
- Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter Study.Diagnostics (Basel, Switzerland) · 2026Article
- Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.International journal of molecular sciences · 2026Article
- Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.Journal of genetics · 2026Article
- Advancing edge-based clustering and graph embedding for biological network analysis: a case study in RASopathies.Briefings in bioinformatics · 2025Article
- ERK activation dynamics in maturing oocyte controls embryonic nuclear divisions in Caenorhabditis elegans.Cell reports · 2025Article
- Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition.Frontiers in genetics · 2025Article
- Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.Genetics in medicine open · 2025Article
- Review
- Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.Skin health and disease · 2024Article
- RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.Disease models & mechanisms · 2024Review
- Oxytocin attenuates hypothalamic injury-induced cognitive dysfunction by inhibiting hippocampal ERK signaling and Aβ deposition.Translational psychiatry · 2024Article
- The role of CRAF in cancer progression: from molecular mechanisms to precision therapies.Nature reviews. Cancer · 2024Review
- Impact of pathogenic variants of the Ras-mitogen-activated protein kinase pathway on major white matter tracts in the human brain.Brain communications · 2024Article
- An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.Cardiovascular drugs and therapy · 2023Review
10 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
2 authors at 1 institution in 1 country.
Funding
Abstract
The RASopathies are defined as a group of medical genetics syndromes that are caused by germ-line mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. Taken together, the RASopathies represent one of the most prevalent groups of malformation syndromes affecting greater than 1 in 1,000 individuals. The Ras/MAPK pathway has been well studied in the context of cancer as it plays essential roles in growth, differentiation, cell cycle, senescence and apoptosis, all of which are also critical to normal development. The consequence of germ-line dysregulation leads to phenotypic alterations of development. RASopathies can be caused by several pathogenetic mechanisms that ultimately impact or alter the normal function and regulation of the MAPK pathway. These pathogenetic mechanisms can include functional alteration of GTPases, Ras GTPase-activating proteins, Ras guanine exchange factors, kinases, scaffolding or adaptor proteins, ubiquitin ligases, phosphatases and pathway inhibitors. Although these mechanisms are diverse, the common underlying biochemical phenotype shared by all the RASopathies is Ras/MAPK pathway activation. This results in the overlapping phenotypic features among these syndromes.
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.