CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic …

2019年1月31日 · CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay / intellectual disability (DD/ID); nearly all individuals older …

2024年12月24日 · CDK13 (Cyclin Dependent Kinase 13) is a Protein Coding gene. Diseases associated with CDK13 include Congenital Heart Defects, Dysmorphic Facial Features, And …

2023年3月7日 · Cyclin-dependent kinase 13 (CDK13) has been suggested to phosphorylate RNA polymerase II and is involved in transcriptional activation. However, whether CDK13 catalyzes …

Cyclin dependent kinase 13 is an enzyme that in humans is encoded by the CDK13 gene. [5] [6] The protein encoded by this gene is a member of the cyclin-dependent serine/threonine …

RNA surveillance pathways detect and degrade defective transcripts to ensure RNA fidelity. We found that disrupted nuclear RNA surveillance is oncogenic. Cyclin-dependent kinase 13 …

cdk13蛋白分子量为 165 kda，主要定位于细胞核，并且多集中于存储 rna剪接因子的核斑中。现认为cdk13是核周区 （癌细胞中形成的亚核结构）的组成部分，核周区 的发生与恶性肿瘤的转 …

Here we describe a group of 27 previously unreported patients to more accurately profile the clinical spectrum associated with CDK13 variants, disclosing novel associated findings, such …

CDK13 mutations associated with melanoma caused accumulation of prematurely terminated RNAs (ptRNAs) generated from existing cleavage and polyadenylation sites found in intronic …

该基因编码的蛋白质是细胞周期蛋白依赖性丝氨酸/苏氨酸蛋白激酶家族的成员。 该家族的成员以其在细胞周期控制中作为主开关的重要作用而闻名。 这种蛋白质的确切功能尚未确定，但它 …