项目编号 PRJCA013874
项目标题 Extracellular Matrix Disorganization Caused by ADAMTS16 Deficiency Leads to Bicuspid Aortic Valve with Raphe Formation
涉及领域 Medical
数据类型 Whole genome sequencing
物种名称 Homo sapiens
描述信息 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.
样品范围 Multiisolate
发布日期 2022-12-13
项目资金来源
机构 项目类型 授权项目ID 授权项目名称
the National Key R&D Program of China 2019YFA0110400
National Natural Science Foundation of China (NSFC) 81970230
提交者 Jianan Wang (wang_jian_an@tom.com)
提交单位 The Second Affiliated Hospital, Zhejiang University School of Medicine
提交日期 2022-12-13

项目包含数据信息

资源名称 描述
BioSample (612)  show -