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

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

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

FBXW11 和 CTNNB1 热点突变相互排斥,激活 Wnt/β-catenin,从而驱动唾液腺基底细胞腺瘤的发生

Wong Kim, Bishop Justin A, Weinreb Ilan, Motta Marialetizia, Del Castillo Velasco-Herrera Martin, Bellacchio Emanuele, Ferreira Ingrid, van der Weyden Louise, Boccacino Jacqueline M, Lauri Antonella, Rotundo Giovannina, Ciolfi Andrea, Cheema Saamin, Olvera-León Rebeca, Offord Victoria, Droop Alastair, Vermes Ian, Allgäuer Michael, Hyrcza Martin, Anderson Elizabeth, Smith Katie, de Saint Aubain Nicolas, Mogler Carolin, Stenzinger Albrecht, Arends Mark J, Brenn Thomas, Tartaglia Marco, Adams David J

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

SNF8基因的双等位基因变异会导致一系列疾病,从严重的脑发育和癫痫性脑病到综合征性视神经萎缩。

Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L; Zott, Benedikt; Sekulić, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; La Morgia, Chiara; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sørensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Abou Jamra, Rami; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias

Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains

硬骨鱼和类器官:探索健康和病变大脑发育的另类窗口

Fasano, Giulia; Compagnucci, Claudia; Dallapiccola, Bruno; Tartaglia, Marco; Lauri, Antonella

In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale

针对未确诊患者的体内功能基因组学:小GTP酶信号传导失调在全胚胎发育尺度上的影响

Lauri, Antonella; Fasano, Giulia; Venditti, Martina; Dallapiccola, Bruno; Tartaglia, Marco

Functional optoacoustic neuro-tomography for scalable whole-brain monitoring of calcium indicators

用于可扩展全脑钙指标监测的功能性光声神经断层扫描

Deán-Ben, X Luís; Sela, Gali; Lauri, Antonella; Kneipp, Moritz; Ntziachristos, Vasilis; Westmeyer, Gil G; Shoham, Shy; Razansky, Daniel

Did the notochord evolve from an ancient axial muscle? The axochord hypothesis

脊索是由远古的轴向肌肉进化而来吗?轴索假说

Brunet, Thibaut; Lauri, Antonella; Arendt, Detlev

Larval body patterning and apical organs are conserved in animal evolution.

动物进化过程中,幼虫的身体结构和顶端器官是保守的

Marlow Heather, Tosches Maria Antonietta, Tomer Raju, Steinmetz Patrick R, Lauri Antonella, Larsson Tomas, Arendt Detlev