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

Impact of the CYFIP2 R87C variant in a human neuronal model in vitro

CYFIP2 R87C 变异体对体外人类神经元模型的影响

Zaboroski-Silva, Isabelle; da Silva Brandão, Evelin; de Freitas Brenha, Bianca; Landry, Curran; Carrara, João; Ferreira, Rodolfo Sanches; Vaz, Isadora May; Jamur, Valderez Ravaglio; Schaffer, Ashleigh E; Miranda, Helen Cristina; Shigunov, Patrícia

Integrator loss leads to dsRNA formation that triggers the integrated stress response.

整合子丢失导致双链RNA形成,从而触发整合应激反应

Baluapuri Apoorva, Zhao Nicole ChenCheng, Marina Ryan J, Huang Kai-Lieh, Kuzkina Anastasia, Amodeo Maria E, Stein Chad B, Ahn Lucie Y, Farr Jordan S, Schaffer Ashleigh E, Khurana Vikram, Wagner Eric J, Adelman Karen

Improving Proteostasis of Trafficking-Deficient GABA(A) Receptor Variants by Activating IRE1.

通过激活 IRE1 改善转运缺陷 GABA(A) 受体变体的蛋白质稳态。

Fu Xu, Wang Ya-Juan, Lee KyungA, Ahn Lucie Y, Chen Xi, Harvey Brock T, Wang Meng, Seibert Hailey, Zhang Pei-Pei, Guerrero Adrian, Schaffer Ashleigh E, Richards Christopher I, Wiseman R Luke, Kelly Jeffery W, Mu Ting-Wei

Exploring the connection between RNA splicing and intellectual disability

探索RNA剪接与智力障碍之间的联系

Caputo, Anthony; Schaffer, Ashleigh E

Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)

通过 Solve-RD 罕见病模型与机制网络 (RDMM-Europe) 进行模型匹配

Ellwanger, Kornelia; Brill, Julie A; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, François; Lobato, Amanda G; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sánchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schüle, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M; Lasko, Paul; Riess, Olaf

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

KATNB1基因突变会破坏不对称分裂的神经祖细胞,从而导致复杂的脑畸形。

Mishra-Gorur, Ketu; Çağlayan, Ahmet Okay; Schaffer, Ashleigh E; Chabu, Chiswili; Henegariu, Octavian; Vonhoff, Fernando; Akgümüş, Gözde Tuğce; Nishimura, Sayoko; Han, Wenqi; Tu, Shu; Baran, Burçin; Gümüş, Hakan; Dilber, Cengiz; Zaki, Maha S; Hossni, Heba A A; Rivière, Jean-Baptiste; Kayserili, Hülya; Spencer, Emily G; Rosti, Rasim Ö; Schroth, Jana; Per, Hüseyin; Çağlar, Caner; Çağlar, Çağri; Dölen, Duygu; Baranoski, Jacob F; Kumandaş, Sefer; Minja, Frank J; Erson-Omay, E Zeynep; Mane, Shrikant M; Lifton, Richard P; Xu, Tian; Keshishian, Haig; Dobyns, William B; Chi, Neil C; Šestan, Nenad; Louvi, Angeliki; Bilgüvar, Kaya; Yasuno, Katsuhito; Gleeson, Joseph G; Günel, Murat

Nkx6.1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity

Nkx6.1 控制着一个基因调控网络,该网络对于建立和维持胰岛β细胞的特性至关重要。

Schaffer, Ashleigh E; Taylor, Brandon L; Benthuysen, Jacqueline R; Liu, Jingxuan; Thorel, Fabrizio; Yuan, Weiping; Jiao, Yang; Kaestner, Klaus H; Herrera, Pedro L; Magnuson, Mark A; May, Catherine Lee; Sander, Maike

Exome sequencing can improve diagnosis and alter patient management

外显子组测序可以改善诊断并改变患者管理。

Dixon-Salazar, Tracy J; Silhavy, Jennifer L; Udpa, Nitin; Schroth, Jana; Bielas, Stephanie; Schaffer, Ashleigh E; Olvera, Jesus; Bafna, Vineet; Zaki, Maha S; Abdel-Salam, Ghada H; Mansour, Lobna A; Selim, Laila; Abdel-Hadi, Sawsan; Marzouki, Naima; Ben-Omran, Tawfeg; Al-Saana, Nouriya A; Sonmez, F Müjgan; Celep, Figen; Azam, Matloob; Hill, Kiley J; Collazo, Adrienne; Fenstermaker, Ali G; Novarino, Gaia; Akizu, Naiara; Garimella, Kiran V; Sougnez, Carrie; Russ, Carsten; Gabriel, Stacey B; Gleeson, Joseph G

Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas

Sox9+导管细胞在整个发育过程中都是多能祖细胞,但在正常或受损的成年胰腺中不会产生新的内分泌细胞。

Kopp, Janel L; Dubois, Claire L; Schaffer, Ashleigh E; Hao, Ergeng; Shih, Hung Ping; Seymour, Philip A; Ma, Jenny; Sander, Maike

Transgenic overexpression of the transcription factor Nkx6.1 in β-cells of mice does not increase β-cell proliferation, β-cell mass, or improve glucose clearance

在小鼠β细胞中转基因过表达转录因子Nkx6.1并不会增加β细胞增殖、β细胞数量或改善葡萄糖清除率。

Schaffer, Ashleigh E; Yang, Almira J; Thorel, Fabrizio; Herrera, Pedro L; Sander, Maike