A5018901632- Vascular Malformations and Hemangiomas
- CRISPR and Genetic Engineering
- Islanding Detection in Power Systems
- RNA Research and Splicing
- Vascular Tumors and Angiosarcomas
- Genomics and Chromatin Dynamics
- Angiogenesis and VEGF in Cancer
- Vascular Anomalies and Treatments
- Vascular Malformations Diagnosis and Treatment
Josep Carreras Leukaemia Research Institute
2021-2024
Abstract Methods for modifying gene function at high spatiotemporal resolution in mice have revolutionized biomedical research, with Cre-loxP being the most widely used technology. However, technology has several drawbacks, including weak activity, leakiness, toxicity, and low reliability of existing Cre-reporters. This is mainly because different genes flanked by loxP sites (floxed) vary their sensitivity to Cre-mediated recombination. Here, we report generation, validation, utility...
Cancer mutations in the PIK3CA gene cause congenital disorders. The endothelium is among most frequently affected tissues these disorders, displaying aberrant vascular overgrowth form of malformations. Pathological phenotypes are found veins and capillaries but rarely arteries for reasons that unclear at present. Here, using lineage tracing, we show expression mutated PIK3CAH1047R endothelial cells leads to marked clonal expansions capillary venous cells. In contrast, mature arterial...
ABSTRACT Low-flow vascular malformations are congenital overgrowths composed by abnormal blood vessels potentially causing pain, bleeding, and obstruction of different organs. These diseases caused oncogenic mutations in the endothelium which result overactivation PI3K/AKT pathway. Lack robust vivo preclinical data has prevented development translation into clinical trials specific molecular therapies for these diseases. Here, we describe a new reproducible model PI3K-driven using postnatal...