Network Diffusion-Based Prioritization of Autism Risk Genes Identifies Significantly Connected Gene Modules

Mosca, Ettore; Bersanelli, Matteo; Gnocchi, Matteo; Moscatelli, Marco; Castellani, Gastone; Milanesi, Luciano; Mezzelani, Alessandra

doi:10.3389/fgene.2017.00129

Cited by 20 publications

(17 citation statements)

References 54 publications

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“…Therefore, some convergence may be expected to occur in development, from a very wide range of possible causes onto a narrower range of core symptoms. One proposal has been made in the genetics literature as to the convergence of many ASD risk genes into gene networks or modules [79,80], some of which may specifically affect synapto-genesis, synaptic function, and circuit formation [81,82]. This view may be supported by the convergence of a large number of knockout mouse models (of genes associated with ASDs) onto few distinct neuroanatomical phenotypes [83].…”

Section: Convergence?mentioning

confidence: 99%

Brain Connectivity and Neuroimaging of Social Networks in Autism

Müller

Fishman

2018

Trends in Cognitive Sciences

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Impairments in social communication (SC) predominate among the core diagnostic features of autism spectrum disorders (ASDs). Neuroimaging has revealed numerous findings of atypical activity and connectivity of 'social brain' networks, yet no consensus view on crucial developmental causes of SC deficits has emerged. Aside from methodological challenges, the deeper problem concerns the clinical label of ASD. While genetic studies have not comprehensively explained the causes of nonsyndromic ASDs, they highlight that the clinical label encompasses many etiologically different disorders. The question of how potential causes and etiologies converge onto a comparatively narrow set of SC deficits remains. Only neuroimaging designs searching for subtypes within ASD cohorts (rather than conventional group level designs) can provide translationally informative answers. An Ever-Increasing Public Health Challenge ASDs represent a group of neurodevelopmental disorders with increasing prevalence, which has doubled within less than a decade (in large part, as a result of improved detection and growing awareness [1]) and is currently estimated in the USA at 1 in 59 children [2], with similar rates (1.5-2%) reported in other countries and continents [3-5]. Aside from personal suffering in affected individuals and their families, ASDs present a major public health challenge, with an estimated annual cost of ~US$300 billion in the USA, projected in one report to approach 3-4% of the gross domestic product within the next decade [6]. Core diagnostic features of ASDs (see Glossary) are sociocommunicative impairments and restricted and repetitive behaviors and interests, with symptom onset during the first years of life [7]. ASDs are heterogeneous in presenting symptoms, developmental outcomes, and adaptive function, with symptom severity levels ranging from mild (requiring minimal support) to severe (necessitating substantial support throughout the lifespan). According to the most recent diagnostic consensus summarized in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5 [7]), core autism symptoms can occur in individuals with or without intellectual or language delays, effectively broadening the diagnosis to include

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Section: Convergence?mentioning

confidence: 99%

Brain Connectivity and Neuroimaging of Social Networks in Autism

Müller

Fishman

2018

Trends in Cognitive Sciences

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“…Interestingly, Lphn1 is able to interact with Neurexins to form adhesion complexes (Boucard et al, 2012) while Shank proteins are also able to interact with Lphns PDZ binding domain (Kreienkamp et al, 2000; Tobaben et al, 2000). This network of interaction hints to a common biological pathway underlying the etiology of ASD (Mosca et al, 2017).…”

Section: The Role Of Latrophilins In Human Neuropathophysiologymentioning

confidence: 99%

Latrophilins: A Neuro-Centric View of an Evolutionary Conserved Adhesion G Protein-Coupled Receptor Subfamily

et al. 2019

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The adhesion G protein-coupled receptors latrophilins have been in the limelight for more than 20 years since their discovery as calcium-independent receptors for α-latrotoxin, a spider venom toxin with potent activity directed at neurotransmitter release from a variety of synapse types. Latrophilins are highly expressed in the nervous system. Although a substantial amount of studies has been conducted to describe the role of latrophilins in the toxin-mediated action, the recent identification of endogenous ligands for these receptors helped confirm their function as mediators of adhesion events. Here we hypothesize a role for latrophilins in inter-neuronal contacts and the formation of neuronal networks and we review the most recent information on their role in neurons. We explore molecular, cellular and behavioral aspects related to latrophilin adhesion function in mice, zebrafish, Drosophila melanogaster and Caenorhabditis elegans , in physiological and pathophysiological conditions, including autism spectrum, bipolar, attention deficit and hyperactivity and substance use disorders.

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“…OSB ile ilişkili olabilecek birçok gen öne sürülmüştür 10 . Özellikle, kromozom 7q (uzun kol) üzerindeki kırılma noktalarının hastalık ile ilişkisi önerilmiştir 11 .…”

Section: Osb'de Genetik Etmenlerunclassified

Otizm Spektrum Bozukluğuna Moleküler Bakış: Genetik ve İmmünolojik Etmenler ile Bağırsak Mikrobiyotası üzerine Bulgular

Gurbanov

2020

Arşiv Kaynak Tarama Dergisi

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As one of the increasing problems of our age, autism spectrum disorder is an umbrella term used for heterogeneous neurodevelopmental disorders such as inadequacy in social development, repetitive motor movements, and retardation in language development. Autism has been argued to be associated with mutations that may occur in different chromosomal regions. Therefore, it has been suggested that genetic factors may play a role in the etiology of the disease. Immunological and immunogenetic changes are the other factors that have been suggested to contribute to the etiology of the disease. In the emergence of autism, besides the genetic factors, the potential effects of environmental factors on functional disorders should not be ignored. In this sense, it has been reported that the intestinal microbiome may be involved in the etiology and/or pathophysiology of autism, and it has been shown that impaired microbiome can cause autistic behaviors by affecting the immune system and central nervous system. In this work, current studies to comprehend the etiology of autism have been reviewed and the potentials of gene and microbiome-oriented therapeutic options in the treatment of autism have been discussed.

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Network Diffusion-Based Prioritization of Autism Risk Genes Identifies Significantly Connected Gene Modules

Cited by 20 publications

References 54 publications

Brain Connectivity and Neuroimaging of Social Networks in Autism

Brain Connectivity and Neuroimaging of Social Networks in Autism

Latrophilins: A Neuro-Centric View of an Evolutionary Conserved Adhesion G Protein-Coupled Receptor Subfamily

Otizm Spektrum Bozukluğuna Moleküler Bakış: Genetik ve İmmünolojik Etmenler ile Bağırsak Mikrobiyotası üzerine Bulgular

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