Functional variants inHCN4andCACNA1Hmay contribute to genetic generalized epilepsy
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چکیده
منابع مشابه
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy
Objective Genetic generalized epilepsy (GGE) encompasses seizure disorders characterized by spike-and-wave discharges (SWD) originating within thalamo-cortical circuits. Hyperpolarization-activated (HCN) and T-type Ca2+ channels are key modulators of rhythmic activity in these brain regions. Here, we screened HCN4 and CACNA1H genes for potentially contributory variants and provide their functio...
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As a heterogeneous kind of malignances, Non-Hodgkin lymphoma (NHL) is the most common hematologic cancer worldwide with the significantly increased morbidity in China. Accumulated evidences demonstrated that oncoprotein MDM4 plays a crucial role in the TP53 tumor suppressor signaling pathway. An rs4245739 A>C polymorphism locating in the MDM4 3'-untranslated region creates a miR-191 target site...
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B-cell lymphoma-2 (BCL-2) prevents apoptosis and its overexpression could promote cancer cell survival. Multiple functional BCL-2 genetic polymorphisms, such as rs2279115, rs1801018 and rs1564483, have been identified previously and might be involved in cancer development through deregulating BCL-2 expression. Therefore, we examined associations between these three polymorphisms and esophageal ...
متن کاملErratum: Functional BCL-2 regulatory genetic variants contribute to susceptibility of esophageal squamous cell carcinoma
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متن کاملGenetic variants contribute to gene expression variability in humans.
Expression quantitative trait loci (eQTL) studies have established convincing relationships between genetic variants and gene expression. Most of these studies focused on the mean of gene expression level, but not the variance of gene expression level (i.e., gene expression variability). In the present study, we systematically explore genome-wide association between genetic variants and gene ex...
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ژورنال
عنوان ژورنال: Epilepsia Open
سال: 2017
ISSN: 2470-9239
DOI: 10.1002/epi4.12068