We are analyzing https://link.springer.com/article/10.1007/s10519-020-09991-x.

Title:
Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders | Behavior Genetics
Description:
The genetic architecture of neurodevelopmental disorders is largely polygenic, non-specific, and pleiotropic. This complex genetic architecture makes the search for specific etiological mechanisms that contribute to neurodevelopmental risk more challenging. Monogenic disorders provide an opportunity to focus in on how well-articulated signaling pathways contribute to risk for neurodevelopmental outcomes. This paper will focus on neurofibromatosis type 1 (NF1), a rare monogenic disorder that is associated with varied neurodevelopmental outcomes. Specifically, this paper will provide a brief overview of NF1 and its phenotypic associations with autism spectrum disorder, attention-deficit/hyperactivity disorder, and specific learning disorders, describe how variation within the NF1 gene increases risk for neurodevelopmental disorders via altered Ras signaling, and provide future directions for NF1 research to help elucidate the genetic architecture of neurodevelopmental disorders in the general population.
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Keywords {🔍}

pubmed, google, scholar, neurofibromatosis, type, central, disorders, autism, genet, children, disorder, spectrum, genetic, med, neurol, child, gutmann, nat, neurodevelopmental, brain, psychiatry, learning, article, cognitive, study, neurosci, gene, mol, human, research, architecture, acosta, adhd, silva, hum, function, signaling, neuropsychol, rev, dev, risk, nature, expression, res, north, deficits, ras, attentiondeficithyperactivity, access, clinical,

Topics {✒️}

gov/research/key-initiatives/ras/ras-central/blog/2015/ras-pathway-v2 dsm-iv attention-deficit/hyperactivity disorder ras pathway v2 month download article/chapter protein-protein interaction networks large-scale genomics unveils neuronal nf1/ras regulation dopamine-related locomotor signature pi3k-akt-mtor pathway akt-mtor pathway rescued gaba/glutamate neuron differentiation attention-deficit/hyperactivity disorder attention deficit/hyperactivity disorder register-based family study autistic subject-derived neurons excitation/inhibition imbalance hypothesis international neurofibromatosis web-based altered ras signaling register-based cohort study mtor-related genes associates randomized placebo-controlled study van der sluis developmental brain disorders cyclic amp phenotype privacy choices/manage cookies biological pathway abnormalities american psychiatric association full article pdf attention-deficit disorder real-world behavior erk/mapk signaling cutting le early communicative behavior related subjects human induced-neuronal o'malley kl decreased glial gaba structural brain abnormalities velez van meerbeke attention system dysfunction shared genetics malignant tumour cells swedish nationwide cohort multiple drug treatments dysregulated gene expressions dopamine-based learning cntnap2-deficient mice community twin study autism spectrum disorder acosta mt

Questions {❓}

Posthuma D, Polderman TJ (2013) What have we learned from recent twin studies about the etiology of neurodevelopmental disorders?

Schema {🗺️}

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