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

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy

通过对意大利100个家庭进行全基因组测序,为神经发育障碍的研究提供了新的见解。

Spirito, Giovanni; Trova, Sara; Treves, Gaia; Farmanli, Khudayar; Canonico, Mariacristina Franzese; Fant, Agata; Marangoni, Stefano; Furia, Federica; Charrance, Debora; Locci, Nicola; Gottardo, Sara; Groppo, Francesca; Perseghin, Vittoria; Toscano, Martina; Bibbò, Erika; Dontin, Serena Donetti; Cargnelutti, Cecilia; Colliard, Mélody; Rosina, Alessandro; Beoni, Anna Maria; Bérard, Cristina; Coppe, Alessandro; Serravalle, Paolo; Landuzzi, Fabio; Musacchia, Francesco; Amoroso, Antonio; Sanges, Remo; Cavalli, Andrea; Vecchi, Manuela; Obino, Laure; Gustincich, Stefano

Crip2 preserves hematopoietic stem and progenitor cell production through inhibition of Notch signals

Crip2通过抑制Notch信号来维持造血干细胞和祖细胞的生成。

Aleman, Angelika G; Ulloa, Bianca; Nayak, Rigolin; Ford, Caitlin; Potts, Kathryn S; de Sena-Tomás, Carmen; Vicioso, Camila; Rangaswamy, Uday; Elias, Harold K; Kharas, Michael G; Sanges, Remo; Bowman, Teresa; Targoff, Kimara L

Immature olfactory sensory neurons are intrinsically excitable and show maturation-dependent changes in voltage-gated Na(+) and K(+) currents

未成熟的嗅觉感觉神经元本身具有兴奋性,并且其电压门控Na(+)和K(+)电流会随着成熟而发生变化。

Ricci, Chiara; Sánchez Triviño, Cesar Adolfo; Rangaswamy, Uday; Tortella, Lorenza; Sanges, Remo; Boccaccio, Anna; Menini, Anna

Nkx2.7 is a conserved regulator of craniofacial development

Nkx2.7是颅面发育的保守调控因子

Ford, Caitlin; de Sena-Tomás, Carmen; Wun, Tint Tha Ra; Aleman, Angelika G; Rangaswamy, Uday; Leyhr, Jake; Nuñez, María I; Gao, Cynthia Zehui; Nim, Hieu T; See, Michael; Coppola, Ugo; Waxman, Joshua S; Ramialison, Mirana; Haitina, Tatjana; Smeeton, Joanna; Sanges, Remo; Targoff, Kimara L

Internal ribosome entry sites enhance translation in trans in antisense non-coding SINEUP and circular RNAs.

内部核糖体进入位点增强反义非编码 SINEUP 和环状 RNA 的反式翻译

D'Agostino Sabrina, Tettey-Matey Abraham, Volpe Massimiliano, Pierattini Bianca, D'Agostino Mattia, Smělá Denisa, Ansaloni Federico, Broglia Laura, Lau Pierre, Peruzzo Omar, Braccia Clarissa, Armirotti Andrea, Scarpato Margherita, Damiani Devid, Ros Gloria, Di Carlo Valerio, Maniscalco Federica, Bechara Elias, Tartaglia Gian Gaetano, Carninci Piero, Santoro Claudio, Persichetti Francesca, Pandolfini Luca, Simonetti Angelita, Espinoza Stefano, Zucchelli Silvia, Sanges Remo, Bon Carlotta, Gustincich Stefano

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

DDX39B基因的新生突变和遗传突变会导致一种新的神经发育综合征。

Booth, Kevin T A; Jangam, Sharayu V; Chui, Martin M C; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Wan-Hei Hui, Jeffrey; White, Kerry; Christensen, Celanie K; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H Y; Lynch, Sally A; Mullegama, Sureni V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K; Wong, Sandra Y Y; Mak, Christopher C Y; Kwong, Anna K Y; Bellen, Hugo J; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F; Chung, Brian H Y; Vetrini, Francesco

Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease

未确诊的PRKN相关帕金森病病例中的复合杂合结构变异

Fant, Agata; Trova, Sara; Monfrini, Edoardo; Treves, Gaia; Musacchia, Francesco; Landuzzi, Fabio; Mandich, Paola; Amoroso, Antonio; Sanges, Remo; Pandolfini, Luca; Cavallieri, Francesco; Valzania, Franco; Fioravanti, Valentina; Di Rauso, Giulia; Brescia, Gloria; Valente, Enza Maria; Tiranti, Valeria; Romito, Luigi Michele; Reale, Chiara; Garavaglia, Barbara; Elia, Antonio Emanuele; Cavalli, Andrea; Di Fonzo, Alessio; Vecchi, Manuela; Gustincich, Stefano

Molecular features of AHDC1: insights into an overlooked gene with broad functional potential

AHDC1的分子特征:对一个被忽视的、具有广泛功能潜力的基因的深入了解

Bochicchio, Silvana; Mazzetti, Aurora; Graziani, Lorenzo; Tartaglia, Gian Gaetano; Gustincich, Stefano; Sanges, Remo

From the genome's perspective: Bearing somatic retrotransposition to leverage the regulatory potential of L1 RNAs

从基因组的角度来看:利用体细胞逆转录转座来发挥L1 RNA的调控潜力

Mangoni, Damiano; Mazzetti, Aurora; Ansaloni, Federico; Simi, Alessandro; Tartaglia, Gian Gaetano; Pandolfini, Luca; Gustincich, Stefano; Sanges, Remo

Exploratory analysis of L1 retrotransposons expression in autism

自闭症中L1逆转录转座子表达的探索性分析

Spirito, Giovanni; Filosi, Michele; Domenici, Enrico; Mangoni, Damiano; Gustincich, Stefano; Sanges, Remo