ArticleCerebral cortex (New York, N.Y. : 1991)2019
PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention.
Article in Cerebral cortex (New York, N.Y. : 1991), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.Molecular psychiatry · 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
- Article
- Quantitative T1 Mapping Indicates Elevated White Matter Myelin in Children With RASopathies.Biological psychiatry · 2025Article
- Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study.Molecular autism · 2025Article
- Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.Molecular autism · 2025Article
- A familial modeling framework for advancing precision medicine for children with neuropsychiatric disorders.Developmental medicine and child neurology · 2025Article
- Transdiagnostic similarities and distinctions in brain networks associated with ASD symptoms: A prospective cohort study.medRxiv : the preprint server for health sciences · 2025Article
- Executive and Social Functioning in Children and Adolescents With Noonan Syndromes: Cognition and Behavior.JAACAP open · 2025Article
- Second Trimester Ultrasound Diagnosis of External Hydrocephalus in Two Fetuses with Noonan Syndrome-Case Report Series.Journal of clinical medicine · 2025Article
- Influences of RASopathies on Neuroanatomical Variation in Children.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2024Article
- Paternally Inherited Noonan Syndrome Caused by aGenes · 2024Review
- Clinical Variability in a Family with Noonan Syndrome with a HomozygousJournal of clinical research in pediatric endocrinology · 2024Article
- Molecular basis underlying changes of brain entropy and functional connectivity in major depressive disorders after electroconvulsive therapy.CNS neuroscience & therapeutics · 2024Article
- Syndrome-Specific Neuroanatomical Phenotypes in Girls With Turner and Noonan Syndromes.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2024Article
- Article
- Neuropsychiatric phenotypes in children with Noonan syndrome.Developmental medicine and child neurology · 2023Article
- Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities.Translational psychiatry · 2023Article
- Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities.Research square · 2023Article
- FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission.PLoS biology · 2023Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
The Ras-MAPK pathway has an established role in neural development and synaptic signaling. Mutations in this pathway are associated with a collection of neurodevelopmental syndromes, Rasopathies; among these, Noonan syndrome (NS) is the most common (1:2000). Prior research has focused on identifying genetic mutations and cellular mechanisms of the disorder, however, effects of NS on the human brain remain unknown. Here, imaging and cognitive data were collected from 12 children with PTPN11-related NS, ages 4.0-11.0 years (8.98 ± 2.33) and 12 age- and sex-matched typically developing controls (8.79 ± 2.17). We observe reduced gray matter volume in bilateral corpus striatum (Cohen's d = -1.0:-1.3), reduced surface area in temporal regions (d = -1.8:-2.2), increased cortical thickness in frontal regions (d = 1.2-1.3), and reduced cortical thickness in limbic regions (d = -1.6), including limbic structures integral to the circuitry of the hippocampus. Further, we find high levels of inattention, hyperactivity, and memory deficits in children with NS. Taken together, these results identify effects of NS on specific brain regions associated with ADHD and learning in children. While our research lays the groundwork for elucidating the neural and behavioral mechanisms of NS, it also adds an essential tier to understanding the Ras-MAPK pathway's role in human brain development.
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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.