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

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

NINL 和 DZANK1 在囊泡运输中共同发挥作用,并且对斑马鱼光感受器的发育至关重要。

Dona, Margo; Bachmann-Gagescu, Ruxandra; Texier, Yves; Toedt, Grischa; Hetterschijt, Lisette; Tonnaer, Edith L; Peters, Theo A; van Beersum, Sylvia E C; Bergboer, Judith G M; Horn, Nicola; de Vrieze, Erik; Slijkerman, Ralph W N; van Reeuwijk, Jeroen; Flik, Gert; Keunen, Jan E; Ueffing, Marius; Gibson, Toby J; Roepman, Ronald; Boldt, Karsten; Kremer, Hannie; van Wijk, Erwin

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

在 Leber 先天性黑蒙的人源化敲入小鼠模型中,CEP290 mRNA 剪接出乎意料

Garanto Alejandro, van Beersum Sylvia E C, Peters Theo A, Roepman Ronald, Cremers Frans P M, Collin Rob W J

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss

编码内耳蛋白耳凝集素样蛋白的 OTOGL 基因突变会导致中度感音神经性听力损失。

Yariz, Kemal O; Duman, Duygu; Zazo Seco, Celia; Dallman, Julia; Huang, Mingqian; Peters, Theo A; Sirmaci, Asli; Lu, Na; Schraders, Margit; Skromne, Isaac; Oostrik, Jaap; Diaz-Horta, Oscar; Young, Juan I; Tokgoz-Yilmaz, Suna; Konukseven, Ozlem; Shahin, Hashem; Hetterschijt, Lisette; Kanaan, Moien; Oonk, Anne M M; Edwards, Yvonne J K; Li, Huawei; Atalay, Semra; Blanton, Susan; Desmidt, Alexandra A; Liu, Xue-Zhong; Pennings, Ronald J E; Lu, Zhongmin; Chen, Zheng-Yi; Kremer, Hannie; Tekin, Mustafa

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

Usher综合征和Leber先天性黑蒙在分子水平上通过一种新型的中心体九蛋白样蛋白亚型相关联。

van Wijk, Erwin; Kersten, Ferry F J; Kartono, Aileen; Mans, Dorus A; Brandwijk, Kim; Letteboer, Stef J F; Peters, Theo A; Märker, Tina; Yan, Xiumin; Cremers, Cor W R J; Cremers, Frans P M; Wolfrum, Uwe; Roepman, Ronald; Kremer, Hannie

Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics

利用N-乙基-N-亚硝基脲诱变驱动的正向遗传学方法鉴定Usher综合征1B型大鼠模型

Smits, Bart M G; Peters, Theo A; Mul, Joram D; Croes, Huib J; Fransen, Jack A M; Beynon, Andy J; Guryev, Victor; Plasterk, Ronald H A; Cuppen, Edwin