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

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

NR6A1基因变异导致一种新型眼椎肾综合征

Neelathi, Uma M; Ullah, Ehsan; George, Aman; Maftei, Mara I; Boobalan, Elangovan; Sanchez-Mendoza, Daniel; Adams, Chloe; McGaughey, David; Sergeev, Yuri V; Ai Rawi, Ranya; Naik, Amelia; Bender, Chelsea; Maumenee, Irene H; Michaelides, Michel; Tan, Tun Giap; Lin, Siying; Villasmil, Rafael; Blain, Delphine; Hufnagel, Robert B; Arno, Gavin; Young, Rodrigo M; Guan, Bin; Brooks, Brian P

frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma

frizzled 5 突变斑马鱼在基因上对小眼畸形和眼裂缺损的发生具有易感性。

Monfries, Clinton; Carter, Stephen; Ataliotis, Paris; Bseisu, Aya; Shaikh, Mahum; Hernández-Bejarano, Maria; Fourteia, Mohammed; Maftei, Mara Ioana; Young, Rodrigo M; Wilson, Stephen W; Gestri, Gaia; Cavodeassi, Florencia

Cachd1 interacts with Wnt receptors and regulates neuronal asymmetry in the zebrafish brain

Cachd1与Wnt受体相互作用,并调节斑马鱼脑中的神经元不对称性。

Powell, Gareth T; Faro, Ana; Zhao, Yuguang; Stickney, Heather; Novellasdemunt, Laura; Henriques, Pedro; Gestri, Gaia; Redhouse White, Esther; Ren, Jingshan; Lu, Weixian; Young, Rodrigo M; Hawkins, Thomas A; Cavodeassi, Florencia; Schwarz, Quenten; Dreosti, Elena; Raible, David W; Li, Vivian S W; Wright, Gavin J; Jones, E Yvonne; Wilson, Stephen W

Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

针对罕见遗传性视网膜疾病数据,开展以患者为中心的新型数字平台(MyEyeSite)的合作研发:可接受性和可行性研究

Gilbert, Rose M; Sumodhee, Dayyanah; Pontikos, Nikolas; Hollyhead, Catherine; Patrick, Angus; Scarles, Samuel; Van Der Smissen, Sabrina; Young, Rodrigo M; Nettleton, Nick; Webster, Andrew R; Cammack, Jocelyn

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

FBXW11基因的新生错义变异导致多种发育表型,包括脑、眼和手指异常。

Holt, Richard J; Young, Rodrigo M; Crespo, Berta; Ceroni, Fabiola; Curry, Cynthia J; Bellacchio, Emanuele; Bax, Dorine A; Ciolfi, Andrea; Simon, Marleen; Fagerberg, Christina R; van Binsbergen, Ellen; De Luca, Alessandro; Memo, Luigi; Dobyns, William B; Mohammed, Alaa Afif; Clokie, Samuel J H; Zazo Seco, Celia; Jiang, Yong-Hui; Sørensen, Kristina P; Andersen, Helle; Sullivan, Jennifer; Powis, Zöe; Chassevent, Anna; Smith-Hicks, Constance; Petrovski, Slavé; Antoniadi, Thalia; Shashi, Vandana; Gelb, Bruce D; Wilson, Stephen W; Gerrelli, Dianne; Tartaglia, Marco; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K

Compensatory growth renders Tcf7l1a dispensable for eye formation despite its requirement in eye field specification

尽管Tcf7l1a在眼区形成中是必需的,但补偿性生长使得它在眼球形成中并非必需。

Young, Rodrigo M; Hawkins, Thomas A; Cavodeassi, Florencia; Stickney, Heather L; Schwarz, Quenten; Lawrence, Lisa M; Wierzbicki, Claudia; Cheng, Bowie Yl; Luo, Jingyuan; Ambrosio, Elizabeth Mayela; Klosner, Allison; Sealy, Ian M; Rowell, Jasmine; Trivedi, Chintan A; Bianco, Isaac H; Allende, Miguel L; Busch-Nentwich, Elisabeth M; Gestri, Gaia; Wilson, Stephen W

Developmentally regulated Tcf7l2 splice variants mediate transcriptional repressor functions during eye formation.

发育调控的Tcf7l2剪接变体在眼睛形成过程中介导转录抑制功能

Young Rodrigo M, Ewan Kenneth B, Ferrer Veronica P, Allende Miguel L, Godovac-Zimmermann Jasminka, Dale Trevor C, Wilson Stephen W

Tcf7l2 is required for left-right asymmetric differentiation of habenular neurons

Tcf7l2是缰核神经元左右不对称分化所必需的。

Hüsken, Ulrike; Stickney, Heather L; Gestri, Gaia; Bianco, Isaac H; Faro, Ana; Young, Rodrigo M; Roussigne, Myriam; Hawkins, Thomas A; Beretta, Carlo A; Brinkmann, Irena; Paolini, Alessio; Jacinto, Raquel; Albadri, Shahad; Dreosti, Elena; Tsalavouta, Matina; Schwarz, Quenten; Cavodeassi, Florencia; Barth, Anukampa K; Wen, Lu; Zhang, Bo; Blader, Patrick; Yaksi, Emre; Poggi, Lucia; Zigman, Mihaela; Lin, Shuo; Wilson, Stephen W; Carl, Matthias

Lef1-dependent Wnt/β-catenin signalling drives the proliferative engine that maintains tissue homeostasis during lateral line development.

Lef1 依赖的 Wnt/β-catenin 信号传导驱动增殖引擎,从而在侧线发育过程中维持组织稳态

Valdivia Leonardo E, Young Rodrigo M, Hawkins Thomas A, Stickney Heather L, Cavodeassi Florencia, Schwarz Quenten, Pullin Lisa M, Villegas Rosario, Moro Enrico, Argenton Francesco, Allende Miguel L, Wilson Stephen W