Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

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Tác giả: Aseel Abbad, J David Brook, Frances Bu'Lock, Marc-Phillip Hitz, Siobhan Loughna, Sophie Rochette, Asma Ali Saed, Qazi Waheed-Ullah, Anna Wilsdon

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Journal of anatomy , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 715708

 Congenital heart disease (CHD) has an incidence of approximately 1%. Over the last decade, sequencing studies including large cohorts of individuals with CHD have begun to unravel the genetic mechanisms underpinning CHD. This includes the identification of variants in cyclin-dependent kinase 13 (CDK13), in individuals with syndromic CHD. CDK13 encodes a serine/threonine protein kinase. The cyclin partner of CDK13 is cyclin K
  this complex is thought to be important in transcription and RNA processing. Pathogenic variants in CDK13 cause CDK13-related disorder in humans, characterised by intellectual disability and developmental delay, recognisable facial features, feeding difficulties and structural brain defects, with 35% of individuals having CHD. To obtain a greater understanding for the role that this essential protein kinase plays in embryonic heart development, we have analysed a presumed loss of function Cdk13 transgenic mouse model (Cdk13
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