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

Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration

CFHR5基因中罕见的预测性功能丧失和有害错义变异与预防年龄相关性黄斑变性相关。

Holleman, Aaron M; Deaton, Aimee M; Hoffing, Rachel A; Krohn, Lynne; LoGerfo, Philip; Nioi, Paul; Plekan, Mollie E; Akle Serrano, Sebastian; Ticau, Simina; Walshe, Tony E; Borodovsky, Anna; Ward, Lucas D

Activin E is a transforming growth factor β ligand that signals specifically through activin receptor-like kinase 7

激活素 E 是一种转化生长因子 β 配体,通过激活素受体样激酶 7 特异性发出信号

Kylie A Vestal, Chandramohan Kattamuri, Muhasin Koyiloth, Luisina Ongaro, James A Howard, Aimee M Deaton, Simina Ticau, Aditi Dubey, Daniel J Bernard, Thomas B Thompson

Elevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patients

在接受吉沃西兰治疗的患者中,高同型半胱氨酸血症与血浆胱硫醚β-合成酶活性呈负相关。

Keibler, Mark A; Sridharan, Gautham V; Sweetser, Marianne T; Ticau, Simina

Activin E is a TGFβ ligand that signals specifically through activin receptor-like kinase 7

激活素 E 是一种 TGFβ 配体,通过激活素受体样激酶 7 特异性发出信号

Kylie A Vestal, Chandramohan Kattamuri, Muhasin Koyiloth, Luisina Ongaro, James A Howard, Aimee Deaton, Simina Ticau, Aditi Dubey, Daniel J Bernard, Thomas B Thompson

Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity

肝因子基因INHBE中罕见的失活变异可预防腹型肥胖。

Deaton, Aimee M; Dubey, Aditi; Ward, Lucas D; Dornbos, Peter; Flannick, Jason; Yee, Elaine; Ticau, Simina; Noetzli, Leila; Parker, Margaret M; Hoffing, Rachel A; Willis, Carissa; Plekan, Mollie E; Holleman, Aaron M; Hinkle, Gregory; Fitzgerald, Kevin; Vaishnaw, Akshay K; Nioi, Paul

Neurofilament Light Chain as a Biomarker of Hereditary Transthyretin-Mediated Amyloidosis

神经丝轻链作为遗传性转甲状腺素蛋白介导的淀粉样变性的生物标志物

Ticau, Simina; Sridharan, Gautham V; Tsour, Shira; Cantley, William L; Chan, Amy; Gilbert, Jason A; Erbe, David; Aldinc, Emre; Reilly, Mary M; Adams, David; Polydefkis, Michael; Fitzgerald, Kevin; Vaishnaw, Akshay; Nioi, Paul

Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry

转甲状腺素蛋白变异体V122I与非洲裔人群多发性神经病的相关性

Parker, Margaret M; Damrauer, Scott M; Tcheandjieu, Catherine; Erbe, David; Aldinc, Emre; Hawkins, Philip N; Gillmore, Julian D; Hull, Leland E; Lynch, Julie A; Joseph, Jacob; Ticau, Simina; Flynn-Carroll, Alexander O; Deaton, Aimee M; Ward, Lucas D; Assimes, Themistocles L; Tsao, Philip S; Chang, Kyong-Mi; Rader, Daniel J; Fitzgerald, Kevin; Vaishnaw, Akshay K; Hinkle, Gregory; Nioi, Paul

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

描述具有罕见 HAO1 基因敲除的健康成年人以支持原发性高草酸尿症的治疗策略

Tracy L McGregor, Karen A Hunt, Elaine Yee, Dan Mason, Paul Nioi, Simina Ticau, Marissa Pelosi, Perry R Loken, Sarah Finer, Deborah A Lawlor, Eric B Fauman, Qin Qin Huang, Christopher J Griffiths, Daniel G MacArthur, Richard C Trembath, Devin Oglesbee, John C Lieske, David V Erbe, John Wright, David

Baculovirus AC102 Is a Nucleocapsid Protein That Is Crucial for Nuclear Actin Polymerization and Nucleocapsid Morphogenesis

杆状病毒AC102是一种核衣壳蛋白,对核肌动蛋白聚合和核衣壳形态发生至关重要。

Hepp, Susan E; Borgo, Gina M; Ticau, Simina; Ohkawa, Taro; Welch, Matthew D

Mechanism and timing of Mcm2-7 ring closure during DNA replication origin licensing

DNA复制起始点许可过程中Mcm2-7环闭合的机制和时间

Ticau, Simina; Friedman, Larry J; Champasa, Kanokwan; Corrêa, Ivan R Jr; Gelles, Jeff; Bell, Stephen P