日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Guidelines for the Diagnosis and Clinical Management of Cavernous Malformations of the Brain and Spinal Cord: Consensus Recommendations Based on a Systematic Literature Review by the Alliance to Cure Cavernous Malformation Clinical Advisory Board Experts Panel

脑脊髓海绵状血管畸形诊断和临床管理指南:基于治愈海绵状血管畸形联盟临床咨询委员会专家组系统文献综述的共识建议

Akers, Amy L; Albanese, John; Alcazar-Felix, Roberto J; Al-Shahi Salman, Rustam; Awad, Issam A; Connolly, Edward S; Danehy, Amy; Flemming, Kelly D; Gordon, Errol; Hage, Stephanie; Kim, Helen; Lanzino, Giuseppe; Lee, Cornelia H; McCormick, Paul C; Mabray, Marc C; Marchuk, Douglas A; Smith, Edward; Smith, Kelsey M; Srivastava, Siddharth; Taylor, J Michael; Vadivelu, Sudhakar

Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome.

内皮细胞中 PTEN 的体细胞单亲二体性导致 PTEN 错构瘤肿瘤综合征患者出现血管畸形

Castillo Sandra D, Perosanz Xabier, Ressler Andrew K, Ivars Marta, Rodríguez Jairo, Rovira Carlota, Nola Emanuele M, Llena Judith, Grego-Bessa Joaquim, Roldán Mónica, Arnau Raquel, Martínez-Romero Anabel, Barber Ignasi, Bejarano Miguel, Vicente Asunción, Celis Verónica, Salvador Héctor, Mora Jaume, Marchuk Douglas A, Baselga Eulalia, Graupera Mariona

Recurrent somatic copy number alterations in resected cerebral cavernous malformations

切除的脑海绵状血管畸形中复发性体细胞拷贝数改变

Ressler, Andrew K; Debose-Scarlett, Evon; Fuenzalida, Amanda; Lightle, Rhonda; Weinsheimer, Shantel; Faughnan, Marie E; Spiekerkoetter, Edda; Schimmel, Katharina; Lawton, Michael; Kim, Helen; Awad, Issam; Marchuk, Douglas A

Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4

一名患有 JP-HHT 的患者的动静脉畸形携带 SMAD4 基因中的两个二次体细胞 DNA 改变。

DeBose-Scarlett, Evon; Ressler, Andrew K; Friday, Cassi; Prickett, Kara K; Roberts, James W; Gossage, James R; Marchuk, Douglas A

The Role of Somatic Mutation in Hereditary Hemorrhagic Telangiectasia Pathogenesis

体细胞突变在遗传性出血性毛细血管扩张症发病机制中的作用

DeBose-Scarlett, Evon; Marchuk, Douglas A

Targeting the ferroptosis pathway: A novel compound, AZD1390, protects the brain after ischemic stroke

靶向铁死亡通路:一种新型化合物AZD1390可在缺血性卒中后保护大脑。

Lee, Han Kyu; Lin, Chao-Chieh; Dunn, Denise E; Chen, Yubin; Chen, Ssu-Yu; Marchuk, Douglas A; Floyd, Scott R; Chi, Jen-Tsan

Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis

遗传性出血性毛细血管扩张症动静脉畸形中的体细胞突变支持双等位基因二次打击突变的发病机制。

DeBose-Scarlett, Evon; Ressler, Andrew K; Gallione, Carol J; Sapisochin Cantis, Gonzalo; Friday, Cassi; Weinsheimer, Shantel; Schimmel, Katharina; Spiekerkoetter, Edda; Kim, Helen; Gossage, James R; Faughnan, Marie E; Marchuk, Douglas A

Pathologic features of brain hemorrhage after radiation treatment: case series with somatic mutation analysis

放射治疗后脑出血的病理特征:基于体细胞突变分析的病例系列研究

Alcazar-Felix, Roberto J; Srinath, Abhinav; Hage, Stephanie; Bindal, Akash; Ressler, Andrew; Pytel, Peter; Allaw, Sammy; Girard, Romuald; Marchuk, Douglas A; Awad, Issam A; Polster, Sean P

Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations

单核DNA测序揭示脑海绵状血管畸形中隐藏的体细胞杂合性缺失

Ressler, Andrew K; Snellings, Daniel A; Girard, Romuald; Gallione, Carol J; Lightle, Rhonda; Allen, Andrew S; Awad, Issam A; Marchuk, Douglas A

mTORC1 Inhibitor Rapamycin Inhibits Growth of Cerebral Cavernous Malformation in Adult Mice.

mTORC1抑制剂雷帕霉素抑制成年小鼠脑海绵状血管畸形的生长

Li Lun, Ren Aileen A, Gao Siqi, Su Yourong S, Yang Jisheng, Bockman Jenna, Mericko-Ishizuka Patricia, Griffin Joanna, Shenkar Robert, Alcazar Roberto, Moore Thomas, Lightle Rhonda, DeBiasse Dorothy, Awad Issam A, Marchuk Douglas A, Kahn Mark L, Burkhardt Jan-Karl