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

A xenotransplantation model for reactivation of paternal UBE3A using human-specific antisense oligonucleotides

利用人源特异性反义寡核苷酸激活父系UBE3A的异种移植模型

Smeenk, Hilde; Lendemeijer, Bas; Buurma, Mirle G; Forgione, Michell A; Slump, Denise E; Monshouwer, Roos A; Wallaard, Ilse; Mientjes, Edwin J; Hoogendijk, Witte J G; Elgersma, Ype; de Vrij, Femke M S; Kushner, Steven A

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.

UBE3A 的恢复可以恢复 Angelman 综合征小鼠模型(印记缺陷)的行为和蛋白质组

Milazzo Claudia, Narayanan Ramanathan, Badillo Solveig, Wang Silvia, Almand Rosaisela, Monshouwer Roos, Tzouros Manuel, Golling Sabrina, Mientjes Edwin, Chamberlain Stormy, Kremer Thomas, Elgersma Ype

A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome

AGPAT3基因功能缺失变异是智力障碍和视网膜色素变性(IDRP)综合征的病因。

Malik, Madiha Amin; Saqib, Muhammad Arif Nadeem; Mientjes, Edwin; Acharya, Anushree; Alam, Muhammad Rizwan; Wallaard, Ilse; Schrauwen, Isabelle; Bamshad, Michael J; Santos-Cortez, Regie Lyn P; Elgersma, Ype; Leal, Suzanne M; Ansar, Muhammad

Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model

反义寡核苷酸治疗可挽救Angelman综合征小鼠模型中的UBE3A表达和多种表型

Milazzo, Claudia; Mientjes, Edwin J; Wallaard, Ilse; Rasmussen, Søren Vestergaard; Erichsen, Kamille Dumong; Kakunuri, Tejaswini; van der Sman, A S Elise; Kremer, Thomas; Miller, Meghan T; Hoener, Marius C; Elgersma, Ype

NPHP4 variants are associated with pleiotropic heart malformations

NPHP4 变异与多效性心脏畸形相关

French, Vanessa M; van de Laar, Ingrid M B H; Wessels, Marja W; Rohe, Christan; Roos-Hesselink, Jolien W; Wang, Guangliang; Frohn-Mulder, Ingrid M E; Severijnen, Lies-Anne; de Graaf, Bianca M; Schot, Rachel; Breedveld, Guido; Mientjes, Edwin; van Tienhoven, Marianne; Jadot, Elodie; Jiang, Zhengxin; Verkerk, Annemieke; Swagemakers, Sigrid; Venselaar, Hanka; Rahimi, Zohreh; Najmabadi, Hossein; Meijers-Heijboer, Hanne; de Graaff, Esther; Helbing, Wim A; Willemsen, Rob; Devriendt, Koen; Belmont, John W; Oostra, Ben A; Amack, Jeffrey D; Bertoli-Avella, Aida M