Extracellular Matrix Disorganization Caused by ADAMTS16 Deficiency Leads to Bicuspid Aortic Valve with Raphe Formation
Release date:
2023-08-30
Description:
The morpholino-based ADAMTS family genes-targeted screening in zebrafish combined with DNA sequencing on a 304 cohort BAV patient were initially carried out to identify the potential related genes. The related genetic mouse models (both knock-out and knock-in) using CRISPR-Cas9 method were generated to further study the roles of ADAMTS family genes. Immunohistochemistry using different antibodies was done to describe the phenotype of cardiac valve anomaly, especially the ECM components. The bulk RNA-sequencing was used to investigate the signaling pathways involved. The inducible pluripotent stem cells derived from the patients were used to study and confirm the gene function.
Organization: The Second Affiliated Hospital, Zhejiang University School of Medicine
Submission date: 2022-12-13
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