Human GRIN2B variants in neurodevelopmental disorders
نویسندگان
چکیده
منابع مشابه
Human GRIN2B variants in neurodevelopmental disorders
The development of whole exome/genome sequencing technologies has given rise to an unprecedented volume of data linking patient genomic variability to brain disorder phenotypes. A surprising number of variants have been found in the N-methyl-d-aspartate receptor (NMDAR) gene family, with the GRIN2B gene encoding the GluN2B subunit being implicated in many cases of neurodevelopmental disorders, ...
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Copy-number variation (CNV) is the most prevalent type of structural variation in the human genome. There is emerging evidence that copy-number variants (CNVs) provide a new vista on understanding susceptibility to neuropsychiatric disorders. Some challenges in the interpretation of current CNV studies include the use of overlapping samples, differing phenotypic definitions, an absence of popul...
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Objective α (CAMK2A) and β (CAMK2B) isoforms of Calcium/calmodulin-dependent protein kinase II (CaMKII) play a pivotal role in neuronal plasticity and in learning and memory processes in the brain. Here, we explore the possible involvement of α- and β-CaMKII variants in neurodevelopmental disorders. Methods Whole-exome sequencing was performed for 976 individuals with intellectual disability,...
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ژورنال
عنوان ژورنال: Journal of Pharmacological Sciences
سال: 2016
ISSN: 1347-8613
DOI: 10.1016/j.jphs.2016.10.002