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AuthorNisar, Sabah
AuthorHashem, Sheema
AuthorBhat, Ajaz A
AuthorSyed, Najeeb
AuthorYadav, Santosh
AuthorAzeem, Muhammad Waqar
AuthorUddin, Shahab
AuthorBagga, Puneet
AuthorReddy, Ravinder
AuthorHaris, Mohammad
Available date2020-09-14T07:01:51Z
Publication Date2019-11-19
Publication NameAging
Identifierhttp://dx.doi.org/10.18632/aging.102473
CitationNisar S, Hashem S, Bhat AA, et al. Association of genes with phenotype in autism spectrum disorder. Aging (Albany NY). 2019;11(22):10742-10770. doi:10.18632/aging.102473
URIhttp://hdl.handle.net/10576/16096
AbstractAutism spectrum disorder (ASD) is a genetic heterogeneous neurodevelopmental disorder that is characterized by impairments in social interaction and speech development and is accompanied by stereotypical behaviors such as body rocking, hand flapping, spinning objects, sniffing and restricted behaviors. The considerable significance of the genetics associated with autism has led to the identification of many risk genes for ASD used for the probing of ASD specificity and shared cognitive features over the past few decades. Identification of ASD risk genes helps to unravel various genetic variants and signaling pathways which are involved in ASD. This review highlights the role of ASD risk genes in gene transcription and translation regulation processes, as well as neuronal activity modulation, synaptic plasticity, disrupted key biological signaling pathways, and the novel candidate genes that play a significant role in the pathophysiology of ASD. The current emphasis on autism spectrum disorders has generated new opportunities in the field of neuroscience, and further advancements in the identification of different biomarkers, risk genes, and genetic pathways can help in the early diagnosis and development of new clinical and pharmacological treatments for ASD.
Languageen
PublisherImpact Journals
Subjectgene transcription
genetic variants
neuronal activity
signaling pathways
synaptic plasticity
TitleAssociation of genes with phenotype in autism spectrum disorder.
TypeArticle Review
Pagination10742-10770
Issue Number22
Volume Number11
ESSN1945-4589
dc.accessType Open Access


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