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

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

通过整合基因组和转录组组装数据来解析X连锁肌张力障碍-帕金森病的致病机制

Tatsiana Aneichyk ,William T Hendriks ,Rachita Yadav ,David Shin ,Dadi Gao ,Christine A Vaine ,Ryan L Collins ,Aloysius Domingo ,Benjamin Currall ,Alexei Stortchevoi ,Trisha Multhaupt-Buell ,Ellen B Penney ,Lilian Cruz ,Jyotsna Dhakal ,Harrison Brand ,Carrie Hanscom ,Caroline Antolik ,Marisela Dy ,Ashok Ragavendran ,Jason Underwood ,Stuart Cantsilieris ,Katherine M Munson ,Evan E Eichler ,Patrick Acuña ,Criscely Go ,R Dominic G Jamora ,Raymond L Rosales ,Deanna M Church ,Stephen R Williams ,Sarah Garcia ,Christine Klein ,Ulrich Müller ,Kirk C Wilhelmsen ,H T Marc Timmers ,Yechiam Sapir ,Brian J Wainger ,Daniel Henderson ,Naoto Ito ,Neil Weisenfeld ,David Jaffe ,Nutan Sharma ,Xandra O Breakefield ,Laurie J Ozelius ,D Cristopher Bragg ,Michael E Talkowski

X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B

连锁肌张力障碍-帕金森病患者细胞通过核因子 κB 表现出信号传导改变

Christine A Vaine, David Shin, Christina Liu, William T Hendriks, Jyotsna Dhakal, Kyle Shin, Nutan Sharma, D Cristopher Bragg

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1

连锁肌张力障碍-帕金森病的发病与 TAF1 中 SVA 逆转录转座子内六聚体重复的扩增相关

D Cristopher Bragg, Kotchaphorn Mangkalaphiban, Christine A Vaine, Nichita J Kulkarni, David Shin, Rachita Yadav, Jyotsna Dhakal, Mai-Linh Ton, Anne Cheng, Christopher T Russo, Mark Ang, Patrick Acuña, Criscely Go, Taylor N Franceour, Trisha Multhaupt-Buell, Naoto Ito, Ulrich Müller, William T Hendr

Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells

X连锁肌张力障碍-帕金森病患者特异性神经干细胞中N-TAF1表达降低

Naoto Ito, William T Hendriks, Jyotsna Dhakal, Christine A Vaine, Christina Liu, David Shin, Kyle Shin, Noriko Wakabayashi-Ito, Marisela Dy, Trisha Multhaupt-Buell, Nutan Sharma, Xandra O Breakefield, D Cristopher Bragg