Advances in autism genetics: on the threshold of a new neurobiology

By B. Abrahams, Daniel H. Geschwind. Nature reviews genetics, 2008

1,905 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/c99d7b17875311a346d3907312939d2d3f7cf6c4

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Citations in the corpus

Drosophila strategies to study psychiatric disorders. (2013, background): “Like schizophrenia, autism spectrum disorders have a strong genetic component, but the mechanism of transmission is still largely unknown [1].”
A genome-wide scan for common alleles affecting risk for autism (2010, background): “In addition to candidate-gene association studies, in which some genes garner supporting evidence (19), genomewide association (GWA) studies have highlighted two ASD risk loci: 5p14.”
The role of immune dysfunction in the pathophysiology of autism (2011, positive): “Even with the recent advancements in identifying candidate genes involved in ASD, all identified genetic risk factors combined account for only 10–20% of the total ASD population (Abrahams and Geschwind, 2008).”
The Simons Simplex Collection: a resource for identification of autism genetic risk factors. (2010, background): “However, during the same time period, it has become clear that the genetic landscape of autism is complex, with many genes contributing to the broad autism phenotype (Abrahams and Geschwind, 2008; Cook and Scherer, 2008).”
Inability to activate Rac1-dependent forgetting contributes to behavioral inflexibility in mutants of multiple autism-risk genes (2016, background): “With a well-defined reversal-learning paradigm in fruit flies, we investigated the effects of five of the most promising or probable autism candidate genes: Fmr1 (Fragile X mental retardation 1), Ube3a (Ubiquitin-protein ligase E3A), Nrx-1 (Neurexin-1), Nlg4 (Neuroligin 4), and Tsc1 (Tuberous sclero”
The Cerebellum, Sensitive Periods, and Autism (2014, background): “ASD, one of the most strongly heritable major neurodevelopmental disorders (Abrahams and Geschwind, 2008), has attracted tremendous research interest.”
Activity-dependent neuronal signalling and autism spectrum disorder (2013, background): “The lipid phosphatase PTEN catalyses the dephosphorylation of PtdIns(3,4,5)P3 at the 3′ position to generate PtdIns(4,5)P2 thus antagonizing the activity of PI(3)K70.”
Consensus Paper: Pathological Role of the Cerebellum in Autism (2012, background): “Multiple studies have linked the En2 and Met genes to AD [53], and animal models involving disruptions to these genes have demonstrated their importance to normal cerebellar development [69, 250, 280].”
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology (2011, neutral): “%) showed significant overlap with the previously described human brain modules (Supplementary Table 6), indicating that many features reflecting the general organization of the autism brain transcriptome are consistent with that of the normal human brain.”
Spatially restricting gene expression by local translation at synapses (2010, neutral): “Patients with the Fragile X syndrome exhibit a wide-range of neurological deficits including cognitive impairment, seizures, emotional instability, sleep disorders, attention deficits, autonomic dysfunction, and autism [44,72,73].”
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011, positive): “Recent data suggest that CNVs may also blur these lines with diverse conditions all showing association to the same loci 2,4 .”
Copy-number variations associated with neuropsychiatric conditions (2008, background): “For example, maternally derived duplications of chromosome 15q11–q13 confer a high risk of ASD (>85p), in contrast to paternally derived duplications whose effects can range from no effect to mild developmental and cognitive impairmen”
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) (2013, neutral): “Letter to the Editor Previous work has crafted curated lists of genes implicated in autism spectrum disorders (ASDs) [1-5], and in some cases developed loosely defined “evidence scores” for entries [6-8].”
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction (2011, background): “Criteria to identify medium spiny neurons were, (1) presence within the caudate putamen; (2) full impregnation of the neuron along the entire length of the dendritic arborization; (3) relative non-overlap with surrounding neurons and”
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2 (2012, background): “(1) Short: duration shorter than 5 ms; frequency range # 6.”