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المؤلفNisar, Sabah
المؤلفHashem, Sheema
المؤلفBhat, Ajaz A
المؤلفSyed, Najeeb
المؤلفYadav, Santosh
المؤلفAzeem, Muhammad Waqar
المؤلفUddin, Shahab
المؤلفBagga, Puneet
المؤلفReddy, Ravinder
المؤلفHaris, Mohammad
تاريخ الإتاحة2020-09-14T07:01:51Z
تاريخ النشر2019-11-19
اسم المنشورAging
المعرّفhttp://dx.doi.org/10.18632/aging.102473
الاقتباسNisar 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
معرّف المصادر الموحدhttp://hdl.handle.net/10576/16096
الملخصAutism 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.
اللغةen
الناشرImpact Journals
الموضوعgene transcription
genetic variants
neuronal activity
signaling pathways
synaptic plasticity
العنوانAssociation of genes with phenotype in autism spectrum disorder.
النوعArticle Review
الصفحات10742-10770
رقم العدد22
رقم المجلد11
ESSN1945-4589
dc.accessType Open Access


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