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

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder

在两个患有常染色体隐性端粒生物学疾病的家族中鉴定出双等位基因POLA2变异。

Kvarnung, Malin; Pettersson, Maria; Chun-On, Pattra; Rafati, Maryam; McReynolds, Lisa J; Norberg, Anna; Moura, Pedro Luis; Pesonen, Ida; Chaireti, Roza; Grönros Söderholm, Boa; Burlin, Julia; Rydén, Jenny; Lindberg, Eva Hellström; Giri, Neelam; Savage, Sharon A; Agarwal, Suneet; Nordgren, Ann; Tesi, Bianca

Decreased rates of cerebral protein synthesis in conscious young adults with fragile X syndrome demonstrated by L-[1-(11)C]leucine PET

L-[1-(11)C]亮氨酸PET显示,脆性X综合征患者清醒状态下的青年脑蛋白合成率降低。

Schmidt, Kathleen C; Loutaev, Inna; Burlin, Thomas V; Thurm, Audrey; Sheeler, Carrie; Smith, Carolyn Beebe

Decreased rates of cerebral protein synthesis measured in vivo in a mouse model of Tuberous Sclerosis Complex: unexpected consequences of reduced tuberin

结节性硬化症小鼠模型体内测量的脑蛋白质合成率降低:结节蛋白减少的意外后果

Rachel Michelle Saré, Tianjian Huang, Tom Burlin, Inna Loutaev, Carolyn Beebe Smith

R-Baclofen Reverses a Social Behavior Deficit and Elevated Protein Synthesis in a Mouse Model of Fragile X Syndrome

R-巴氯芬可逆转脆性 X 综合征小鼠模型中的社交行为缺陷和蛋白质合成升高

Mei Qin, Tianjian Huang, Michael Kader, Leland Krych, Zengyan Xia, Thomas Burlin, Zachary Zeidler, Tingrui Zhao, Carolyn B Smith

Cerebral protein synthesis in a knockin mouse model of the fragile X premutation

脆性 X 基因前突变的敲入小鼠模型中的脑蛋白质合成

Mei Qin, Tianjian Huang, Zhonghua Liu, Michael Kader, Thomas Burlin, Zengyan Xia, Zachary Zeidler, Renate K Hukema, Carolyn B Smith

Altered cerebral protein synthesis in fragile X syndrome: studies in human subjects and knockout mice

脆性X综合征中脑蛋白合成改变:人类受试者和基因敲除小鼠的研究

Qin, Mei; Schmidt, Kathleen C; Zametkin, Alan J; Bishu, Shrinivas; Horowitz, Lisa M; Burlin, Thomas V; Xia, Zengyan; Huang, Tianjiang; Quezado, Zenaide M; Smith, Carolyn Beebe

Propofol anesthesia does not alter regional rates of cerebral protein synthesis measured with L-[1-(11)C]leucine and PET in healthy male subjects

在健康男性受试者中,丙泊酚麻醉不会改变使用 L-[1-(11)C]亮氨酸和 PET 测量的脑部区域蛋白质合成率。

Bishu, Shrinivas; Schmidt, Kathleen C; Burlin, Thomas V; Channing, Michael A; Horowitz, Lisa; Huang, Tianjiang; Liu, Zhong-hua; Qin, Mei; Vuong, B-K; Unterman, Aaron J; Xia, Zengyan; Zametkin, Alan; Herscovitch, Peter; Quezado, Zenaide; Smith, Carolyn B

Regional rates of cerebral protein synthesis measured with L-[1-11C]leucine and PET in conscious, young adult men: normal values, variability, and reproducibility

利用 L-[1-11C]亮氨酸和 PET 测量清醒年轻成年男性脑部蛋白质合成的区域速率:正常值、变异性和可重复性

Bishu, Shrinivas; Schmidt, Kathleen C; Burlin, Thomas; Channing, Michael; Conant, Shielah; Huang, Tianjiang; Liu, Zhong-hua; Qin, Mei; Unterman, Aaron; Xia, Zengyan; Zametkin, Alan; Herscovitch, Peter; Smith, Carolyn B