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

Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology

分泌型逆转录病毒样GAG结构域蛋白PEG10受UBE3A调控,并参与Angelman综合征的病理生理过程。

Nikhil J Pandya ,Congwei Wang ,Veronica Costa ,Paul Lopatta ,Sonja Meier ,F Isabella Zampeta ,A Mattijs Punt ,Edwin Mientjes ,Philip Grossen ,Tania Distler ,Manuel Tzouros ,Yasmina Martí ,Balazs Banfai ,Christoph Patsch ,Soren Rasmussen ,Marius Hoener ,Marco Berrera ,Thomas Kremer ,Tom Dunkley ,Martin Ebeling ,Ben Distel ,Ype Elgersma ,Ravi Jagasia

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia

候选 CSPG4 突变和诱导性多能干细胞建模表明家族性精神分裂症中的少突胶质细胞祖细胞功能障碍

Femke M de Vrij #, Christian G Bouwkamp #, Nilhan Gunhanlar #, Guy Shpak, Bas Lendemeijer, Maarouf Baghdadi, Shreekara Gopalakrishna, Mehrnaz Ghazvini, Tracy M Li, Marialuisa Quadri, Simone Olgiati, Guido J Breedveld, Michiel Coesmans, Edwin Mientjes, Ton de Wit, Frans W Verheijen, H Berna Beverloo,

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

与智力障碍相关的 CAMK2G p.Arg292Pro 突变可作为致病性功能获得

Martina Proietti Onori, Balwina Koopal, David B Everman, Jessica D Worthington, Julie R Jones, Melissa A Ploeg, Edwin Mientjes, Bregje W van Bon, Tjitske Kleefstra, Howard Schulman, Steven A Kushner, Sébastien Küry, Ype Elgersma, Geeske M van Woerden

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

Ube3a 恢复识别小鼠 Angelman 综合征模型中的不同发育窗口

Sara Silva-Santos, Geeske M van Woerden, Caroline F Bruinsma, Edwin Mientjes, Mehrnoush Aghadavoud Jolfaei, Ben Distel, Steven A Kushner, Ype Elgersma

The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome

GABAA 受体是 FMRP 靶点,具有治疗脆性 X 综合征的潜力

Sien Braat, Charlotte D'Hulst, Inge Heulens, Silvia De Rubeis, Edwin Mientjes, David L Nelson, Rob Willemsen, Claudia Bagni, Debby Van Dam, Peter P De Deyn, R Frank Kooy

DAZL limits pluripotency, differentiation, and apoptosis in developing primordial germ cells

DAZL 限制原始生殖细胞发育过程中的多能性、分化和凋亡

Hsu-Hsin Chen, Maaike Welling, Donald B Bloch, Javier Muñoz, Edwin Mientjes, Xinjie Chen, Cody Tramp, Jie Wu, Akiko Yabuuchi, Yu-Fen Chou, Christa Buecker, Adrian Krainer, Rob Willemsen, Albert J Heck, Niels Geijsen

Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field of Fmr1 knockout mice

Fmr1 基因敲除小鼠的 CA1 区突触离子型谷氨酸受体和可塑性发生发育改变

Yair Pilpel, Aleksander Kolleker, Sven Berberich, Melanie Ginger, Andreas Frick, Edwin Mientjes, Ben A Oostra, Peter H Seeburg