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 …

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 …

What is CDK13-related disorder? CDK13-related disorder is a rare genetic condition associated with developmental delay, intellectual disability, heart conditions, and speech and language …

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 · We here identify key translation machinery components, 4E-BP1 and eIF4B, as novel CDK13 substrates. CDK13 directly phosphorylates 4E-BP1 at Thr46 and eIF4B at …

2024年11月18日 · This includes the identification of variants in cyclin-dependent kinase 13 (CDK13), in individuals with syndromic CHD. CDK13 encodes a serine/threonine protein …