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

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

SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics

SLC35A2功能缺失变异体影响糖组学特征、神经元命运和网络动力学

Lai, Dulcie; Sosicka, Paulina; Williams, Damian J; Bowyer, MaryAnn E; Ressler, Andrew K; Kohrt, Sarah E; Muron, Savannah J; Crino, Peter B; Freeze, Hudson H; Boland, Michael J; Heinzen, Erin L

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

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

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

Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases

利用已报道的致病变异来识别遗传疾病的治疗机会

Ressler, Andrew K; Goldstein, David B