
Somatic variants of MAP3K3 are sufficient to cause cerebral
2023年9月1日 · Somatic mutations in MAP3K3 and PIK3CA were recently reported in patients with sporadic CCM, yet it remains unknown whether MAP3K3 mutation is sufficient to induce …
【中国声音】宣武医院神经外科洪韬团队海绵状血管畸形小鼠模型 …
与ccm1/2/3和pik3ca诱导的ccm不同,map3k3 i441m 突变在散发性脑和脊髓海绵状血管畸形患者队列中被广泛发现,这强烈表明,一次打击机制可能是ccm形成的基础,我们的ccm小鼠模型 …
Somatic MAP3K3 mutation defines a subclass of cerebral
2021年5月6日 · Leveraging mini-bulk sequencing, we demonstrate the enrichment of MAP3K3 c.1323C>G mutation in CCM endothelium. Mechanistically, beyond the activation of CCM1/2/3 …
Somatic MAP3K3 mutation defines a subclass of cerebral …
2021年5月6日 · Leveraging mini-bulk sequencing, we demonstrate the enrichment of MAP3K3 c.1323C>G mutation in CCM endothelium. Mechanistically, beyond the activation of CCM1/2/3 …
Map3k3 I441M Knock-In Mouse Model of Cerebral Cavernous …
2 天之前 · The Map3k3 I441M knock-in mice were crossed with Cdh5-creER T2 mice to induce mutant gene expression specifically in endothelial cells. Subsequently, Map3k3 I441M mice …
北京天坛医院曹勇团队与香港科技大学王吉光团队在AJHG上揭示脑 …
该论文提供了迄今为止最为完整的脑海绵状血管畸形(cerebral cavernous malformation, CCM)包括CCM基因突变、MAP3K3、 PIK3CA、 MAP2K7等体细胞基因突变的基因突变全景图。
Endothelial hyperactivation of mutant MAP3K3 induces cerebral …
2023年1月31日 · By using AAV-BR1, we found that MAP3K3I441M mutation can provoke CCM-like lesions in mice and the activation of PI3K signaling significantly enhances and maintains …
附属北京天坛医院曹勇教授团队《Am J Hum Genet》揭示脑海绵 …
2021年7月5日 · 该论文提供了迄今为止最为完整的脑海绵状血管畸形(cerebral cavernous malformation, CCM)基因突变全景图——单纯性CCM存在CCM 1/2、MAP3K3、 PIK3CA、 …
Endothelial hyperactivation of mutant MAP3K3 induces cerebral …
By using AAV-BR1, we found that MAP3K3 I441M mutation can provoke CCM-like lesions in mice and the activation of PI3K signaling significantly enhances and maintains these lesions, …
Somatic variants of MAP3K3 are sufficient to cause cerebral and …
Somatic mutations in MAP3K3 and PIK3CA were recently reported in patients with sporadic CCM, yet it remains unknown whether MAP3K3 mutation is sufficient to induce CCMs. Here we …