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

ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis

ACTA2致病变异体激活热休克因子1并增加平滑肌细胞中的胆固醇生物合成,从而易导致早发性动脉粥样硬化

Boerio, Maura L; Chattopadhyay, Abhijnan; Duan, Xue-Yan; Karla, Aamuktha; Calderon Martinez, Ernesto; Pinard, Amelie; Morse, Andrew K; Reddy, Darshan; Dharma, Sree; Velasco-Torrez, Walter; Marcadier, Julien; Prakash, Siddharth K; Shalhub, Sherene; De Backer, Julie; Jeremy, Richmond; Morris, Shaine A; Yetman, Anji T; Braverman, Alan C; Milewicz, Dianna M

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome

SAMHD1复合杂合罕见变异与烟雾病和二尖瓣疾病相关,但无艾卡迪-古蒂埃综合征的其他特征。

Karla, Aamuktha R; Pinard, Amélie; Boerio, Maura L; Hemelsoet, Dimitri; Tavernier, Simon J; De Pauw, Michel; Vereecke, Elke; Fraser, Stuart; Bamshad, Michael J; Guo, Dongchuan; Callewaert, Bert; Milewicz, Dianna M

Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease

编码钙激活氯离子通道的ANO1基因的罕见变异会使人易患烟雾病。

Pinard, Amélie; Ye, Wenlei; Fraser, Stuart M; Rosenfeld, Jill A; Pichurin, Pavel; Hickey, Scott E; Guo, Dongchuan; Cecchi, Alana C; Boerio, Maura L; Guey, Stéphanie; Aloui, Chaker; Lee, Kwanghyuk; Kraemer, Markus; Alyemni, Saleh Omar; Bamshad, Michael J; Nickerson, Deborah A; Tournier-Lasserve, Elisabeth; Haider, Shozeb; Jin, Sheng Chih; Smith, Edward R; Kahle, Kristopher T; Jan, Lily Yeh; He, Mu; Milewicz, Dianna M

Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease

进一步证据表明,ARIH1罕见变异会增加患胸主动脉疾病的风险。

Boerio, Maura L; Engelhardt, Nicole M; Cuddapah, Sanmati; Gold, Jessica I; Marin, Isabella C; Pinard, Amélie; Guo, Dongchuan; Prakash, Siddharth K; Milewicz, Dianna M

Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment

预防急性主动脉夹层:家族筛查和风险评估的作用

Cecchi, Alana C; Boerio, Maura L; Marin, Isabella; Pinard, Amélie; Milewicz, Dianna M

Application of calorimetry on a chip to high-pressure materials

将芯片量热法应用于高压材料

Navrotsky, Alexandra; Dorogova, Maria; Hellman, Frances; Cooke, David W; Zink, Barry L; Lesher, Charles E; Boerio-Goates, Juliana; Woodfield, Brian F; Lang, Brian