Identification of a β-Arrestin 2 Mutation Related to Autism by Whole-Exome Sequencing
المؤلفون المشاركون
Tong, Lei
Du, Dongshu
Tang, Yunfei
Liu, Yamei
Feng, Shini
Chen, Fuxue
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-11-05
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
Autism spectrum disorder (ASD) is a complex neurological disease characterized by impaired social communication and interaction skills, rigid behavior, decreased interest, and repetitive activities.
The disease has a high degree of genetic heterogeneity, and the genetic cause of ASD in many autistic individuals is currently unclear.
In this study, we report a patient with ASD whose clinical features included social interaction disorder, communication disorder, and repetitive behavior.
We examined the patient’s genetic variation using whole-exome sequencing technology and found new de novo mutations.
After analysis and evaluation, ARRB2 was identified as a candidate gene.
To study the potential contribution of the ARRB2 gene to the human brain development and function, we first evaluated the expression profile of this gene in different brain regions and developmental stages.
Then, we used weighted gene coexpression network analysis to analyze the associations between ARRB2 and ASD risk genes.
Additionally, the spatial conformation and stability of the ARRB2 wild type and mutant proteins were examined by simulations.
Then, we further established a mouse model of ASD.
The results showed abnormal ARRB2 expression in the mouse ASD model.
Our study showed that ARRB2 may be a risk gene for ASD, but the contribution of de novo ARRB2 mutations to ASD is unclear.
This information will provide references for the etiology of ASD and aid in the mechanism-based drug development and treatment.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Tang, Yunfei& Liu, Yamei& Tong, Lei& Feng, Shini& Du, Dongshu& Chen, Fuxue. 2020. Identification of a β-Arrestin 2 Mutation Related to Autism by Whole-Exome Sequencing. BioMed Research International،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1137805
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Tang, Yunfei…[et al.]. Identification of a β-Arrestin 2 Mutation Related to Autism by Whole-Exome Sequencing. BioMed Research International No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1137805
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Tang, Yunfei& Liu, Yamei& Tong, Lei& Feng, Shini& Du, Dongshu& Chen, Fuxue. Identification of a β-Arrestin 2 Mutation Related to Autism by Whole-Exome Sequencing. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1137805
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1137805
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر