ArticleCerebral cortex (New York, N.Y. : 1991)2021
PTPN11 Mutations in the Ras-MAPK Signaling Pathway Affect Human White Matter Microstructure.
Article in Cerebral cortex (New York, N.Y. : 1991), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Social Communication in Ras Pathway Disorders: A Comprehensive Review From Genetics to Behavior in Neurofibromatosis Type 1 and Noonan Syndrome.Biological psychiatry · 2025Pooled it
- Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.HGG advances · 2026Article
- Mendelian randomization and clinical retrospective radiomics study reveal causal relationships between brain imaging-derived phenotypes and epilepsy risk.Brain imaging and behavior · 2026Article
- The T1-Weighted/T2-Weighted Ratio as an In Vivo Proxy for Reduced Intracortical Myelin Content in Youth With RASopathies: A Cross-Sectional Study.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2026Article
- Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.bioRxiv : the preprint server for biology · 2025Article
- 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
- A familial modeling framework for advancing precision medicine for children with neuropsychiatric disorders.Developmental medicine and child neurology · 2025Article
- Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1).Acta neuropathologica communications · 2025Review
- T1w/T2w ratio suggests reduced intracortical myelin content in youth with RASopathies.medRxiv : the preprint server for health sciences · 2025Article
- Transdiagnostic similarities and distinctions in brain networks associated with ASD symptoms: A prospective cohort study.medRxiv : the preprint server for health sciences · 2025Article
- Subcortical shape alterations in children with Noonan syndrome spectrum: insights into genotype-phenotype associations.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- Elucidating Microstructural Alterations in Neurodevelopmental Disorders: Application of Advanced Diffusion-Weighted Imaging in Children With Rasopathies.Human brain mapping · 2024Article
- Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.Genes · 2024Article
- Experience-dependent MAPK/ERK signaling in glia regulates critical period remodeling of synaptic glomeruli.Cellular signalling · 2024Article
- Hyperactivation of MEK1 in cortical glutamatergic neurons results in projection axon deficits and aberrant motor learning.Disease models & mechanisms · 2024Article
- Study on plasma metabolomics profiling of depression in Chinese community-dwelling older adults based on untargeted LC/GC‒MS.Scientific reports · 2024Article
- Update on the Vein of Galen Aneurysmal Malformation : Disease Concept and Genetics.Journal of Korean Neurosurgical Society · 2024Article
- Impact of pathogenic variants of the Ras-mitogen-activated protein kinase pathway on major white matter tracts in the human brain.Brain communications · 2024Article
- Genomics and Drug Discovery Strategies: The Role of Natural Compounds and Its Receptor in Alzheimer's Disease.Cureus · 2024Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
We examined whether PTPN11 mutations affect the white matter connectivity of the developing human brain. Germline activating mutations to the PTPN11 gene cause overactivation of the Ras-Mitogen-Activated Protein Kinase pathway. Activating mutations cause Noonan syndrome (NS), a developmental disorder associated with hyperactivity and cognitive weakness in attention, executive function, and memory. In mouse models of NS, PTPN11 mutations cause reduced axon myelination and white matter formation, while the effects of PTPN11 mutations on human white matter are largely unknown. For the first time, we assessed 17 children with NS (9 females, mean age, 8.68 ± 2.39) and 17 age- and sex-matched controls (9 female, mean age, 8.71 ± 2.40) using diffusion brain imaging for white matter connectivity and structural magnetic resonance imaging to characterize brain morphology. Children with NS showed widespread reductions in fractional anisotropy (FA; 82 613 voxels, t = 1.49, P < 0.05) and increases in radial diffusivity (RD; 94 044 voxels, t = 1.22, P < 0.05), denoting decreased white matter connectivity. In NS, the FA of the posterior thalamic radiation correlated positively with inhibition performance, whereas connectivity in the genu of the corpus callosum was inversely associated with auditory attention performance. Additionally, we observed negative and positive correlations, respectively, between memory and the cingulum hippocampus, and memory and the cingulum cingulate gyrus. These findings elucidate the neural mechanism underpinning the NS cognitive phenotype, and may serve as a brain-based biomarker.
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