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Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome
المؤلفون المشاركون
Vargas, José Eduardo
Mergener, Rafaella
Riegel, Mariluce
Galera, Marcial Francis
Moreira, Lília Maria Azevedo
Corrêa, Thiago
Leite, Júlio César Loguercio
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-10، 10ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-03-12
دولة النشر
مصر
عدد الصفحات
10
التخصصات الرئيسية
الملخص EN
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions.
In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades.
The cytogenetic and clinical patient profiles were evaluated.
We characterized 12 terminal deletions, one interstitial deletion, two ring chromosomes, and one classical translocation 4;8.
CMA allowed delineation of the deletions, which ranged from 3.7 to 25.6 Mb with breakpoints from 4p16.3 to 4p15.33.
Furthermore, the smallest region of overlapping (SRO) encompassed seven genes in a terminal region of 330 kb in the 4p16.3 region, suggesting a region of susceptibility to convulsions and microcephaly.
Therefore, molecular interaction networks and topological analysis were performed to understand these WHS-related symptoms.
Our results suggest that specific cell signaling pathways including dopamine receptor, NAD+ nucleosidase activity, and fibroblast growth factor-activated receptor activity are associated with the diverse pathological WHS phenotypes and their symptoms.
Additionally, we identified 29 hub-bottlenecks (H-B) nodes with a major role in WHS.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Corrêa, Thiago& Mergener, Rafaella& Leite, Júlio César Loguercio& Galera, Marcial Francis& Moreira, Lília Maria Azevedo& Vargas, José Eduardo…[et al.]. 2018. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. BioMed Research International،Vol. 2018, no. 2018, pp.1-10.
https://search.emarefa.net/detail/BIM-1127303
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Corrêa, Thiago…[et al.]. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. BioMed Research International No. 2018 (2018), pp.1-10.
https://search.emarefa.net/detail/BIM-1127303
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Corrêa, Thiago& Mergener, Rafaella& Leite, Júlio César Loguercio& Galera, Marcial Francis& Moreira, Lília Maria Azevedo& Vargas, José Eduardo…[et al.]. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-10.
https://search.emarefa.net/detail/BIM-1127303
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1127303
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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