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

Lrrn-mediated retinal ganglion cell targeting drives visual circuit assembly for brightness and contrast detection

Lrrn介导的视网膜神经节细胞靶向驱动视觉回路组装,从而实现亮度和对比度检测。

Putti, Elena; Faini, Giulia; Thanh-Mai Dang, Julie; Savaliya, Jay H; Eggeler, Fanny; Duroure, Karine; Vougny, Juliette; Ortiz-Álvarez, Gonzalo; Pujades, Cristina; Bahl, Armin; Lichtman, Jeff W; Engert, Florian; Boulanger-Weill, Jonathan; Del Bene, Filippo; Albadri, Shahad

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

JKAMP 的双等位基因功能丧失变异会导致与 GPR37 运输失调相关的神经发育综合征。

Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela

Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo

斑马鱼col4a1功能缺失模型能够模拟COL4A1/A2综合征的关键神经血管和眼部特征,并可用于在体内评估人类变异。

Paradisi, Graziamaria; Bonavolontà, Valeria; Venditti, Martina; Fasano, Giulia; Pedalino, Catia; Del Bene, Filippo; Tartaglia, Marco; Lauri, Antonella

Meteorins regulate the formation of the left-right organizer and the establishment of vertebrate body asymmetry.

流星蛋白调节左右组织者的形成和脊椎动物身体不对称性的建立

Eggeler Fanny, Boulanger-Weill Jonathan, De Santis Flavia, Belleri Laura, Duroure Karine, Auer Thomas O, Albadri Shahad, Del Bene Filippo

Lrrns define a visual circuit underlying brightness and contrast perception

Lrrns定义了亮度与对比度感知背后的视觉回路

Putti, Elena; Faini, Giulia; Dang, Julie Thanh-Mai; Eggeler, Fanny; Savaliya, Jay H; Duroure, Karine; Vougny, Juliette; Bahl, Armin; Lichtman, Jeff W; Engert, Florian; Boulanger-Weill, Jonathan; Del Bene, Filippo; Albadri, Shahad

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism

从头发生的单等位基因Reelin错义变异通过显性负性机制导致显性神经元迁移障碍。

Riva, Martina; Ferreira, Sofia; Hayashi, Kotaro; Saillour, Yoann; Medvedeva, Vera P; Honda, Takao; Hayashi, Kanehiro; Altersitz, Claire; Albadri, Shahad; Rosello, Marion; Dang, Julie; Serafini, Malo; Causeret, Frédéric; Henry, Olivia J; Roux, Charles-Joris; Bellesme, Céline; Freri, Elena; Josifova, Dragana; Parrini, Elena; Guerrini, Renzo; Del Bene, Filippo; Nakajima, Kazunori; Bahi-Buisson, Nadia; Pierani, Alessandra

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

全基因组关联研究荟萃分析揭示了异卵双胞胎中女性生育力的遗传调控机制

Mbarek, Hamdi; Gordon, Scott D; Duffy, David L; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J; Hottenga, Jouke-Jan; Pool, René; Dolan, Conor V; Actkins, Ky'Era V; Gerring, Zachary F; Van Dongen, Jenny; Ehli, Erik A; Iacono, William G; Mcgue, Matt; Chasman, Daniel I; Gallagher, C Scott; Schilit, Samantha L P; Morton, Cynthia C; Paré, Guillaume; Willemsen, Gonneke; Whiteman, David C; Olsen, Catherine M; Derom, Catherine; Vlietinck, Robert; Gudbjartsson, Daniel; Cannon-Albright, Lisa; Krapohl, Eva; Plomin, Robert; Magnusson, Patrik K E; Pedersen, Nancy L; Hysi, Pirro; Mangino, Massimo; Spector, Timothy D; Palviainen, Teemu; Milaneschi, Yuri; Penninnx, Brenda W; Campos, Adrian I; Ong, Ken K; Perry, John R B; Lambalk, Cornelis B; Kaprio, Jaakko; Ólafsson, Ísleifur; Duroure, Karine; Revenu, Céline; Rentería, Miguel E; Yengo, Loic; Davis, Lea; Derks, Eske M; Medland, Sarah E; Stefansson, Hreinn; Stefansson, Kari; Del Bene, Filippo; Reversade, Bruno; Montgomery, Grant W; Boomsma, Dorret I; Martin, Nicholas G

A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos

一种微创的鳍划痕法,用于斑马鱼胚胎的快速基因分型和早期筛选

Venditti, Martina; Pedalino, Catia; Rosello, Marion; Fasano, Giulia; Serafini, Malo; Revenu, Céline; Del Bene, Filippo; Tartaglia, Marco; Lauri, Antonella

An analysis pipeline to compare explorative locomotion across fish species

用于比较不同鱼类探索性运动的分析流程

Rajan, Gokul; Debregeas, Georges; Orger, Michael B; Del Bene, Filippo

Bilateral visual projections exist in non-teleost bony fish and predate the emergence of tetrapods

双侧视觉投射存在于非真骨鱼类中,并且早于四足动物的出现。

Vigouroux, Robin J; Duroure, Karine; Vougny, Juliette; Albadri, Shahad; Kozulin, Peter; Herrera, Eloisa; Nguyen-Ba-Charvet, Kim; Braasch, Ingo; Suárez, Rodrigo; Del Bene, Filippo; Chédotal, Alain