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

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

长读长测序可识别脊髓性肌萎缩症中 SMN 基因转换的拷贝特异性标记

Zwartkruis M M, Elferink M G, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens I J, Green J W, Kortooms J V, Vermeulen C, Straver R, van Deutekom H W M, Veldink J H, Asselman F, Tizzano E F, Wadman R I, van der Pol W L, van Haaften G W, Groen E J N

Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy

产前SMN依赖性翻译缺陷揭示脊髓性肌萎缩症中可逆的原发性纤毛表型

Genovese, Federica; Huang, Yu-Ting; Motyl, Anna Al; Paganin, Martina; Sharma, Gaurav; Signoria, Ilaria; Donzel, Deborah; Lai, Nicole Ch; Pronot, Marie; Kline, Rachel A; Chaytow, Helena; Morris, Kimberley J; Faller, Kiterie Me; Wishart, Thomas M; Groen, Ewout Jn; Cousin, Michael A; Viero, Gabriella; Gillingwater, Thomas H

Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy

对SMN2的全面分析排除了DNA甲基化作为脊髓性肌萎缩症表观遗传生物标志物的可能性。

Maria M Zwartkruis ,Joris V Kortooms ,Demi Gommers ,Martin G Elferink ,Ilaria Signoria ,Joyce van der Sel ,Paul J Hop ,Ramona A J Zwamborn ,Robin Geene ,Jared W Green ,Hanneke W M van Deutekom ,Wouter van Rheenen ,Jan H Veldink ,Fay-Lynn Asselman ,Renske I Wadman ,W Ludo van der Pol ,Gijs W van Haaften ,Ewout J N Groen

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts

脊髓性肌萎缩成纤维细胞对 SMN2 剪接修饰治疗的患者特异性反应

Ilaria Signoria, Maria M Zwartkruis, Lotte Geerlofs, Elena Perenthaler, Kiterie M E Faller, Rachel James, Harriet McHale-Owen, Jared W Green, Joris Kortooms, Sophie H Snellen, Fay-Lynn Asselman, Thomas H Gillingwater, Gabriella Viero, Renske I Wadman, W Ludo van der Pol, Ewout J N Groen

Phospho-RNA sequencing with circAID-p-seq

利用 circAID-p-seq 进行磷酸化 RNA 测序

Alessia Del Piano,Tea Kecman,Michael Schmid,Ruggero Barbieri,Luciano Brocchieri,Silvia Tornaletti,Claudia Firrito,Luca Minati,Paola Bernabo,Ilaria Signoria,Fabio Lauria,Thomas H Gillingwater,Gabriella Viero,Massimiliano Clamer

Reduction of nucleolar NOC1 leads to the accumulation of pre-rRNAs and induces Xrp1, affecting growth and resulting in cell competition

核仁 NOC1 的减少导致前 rRNA 的积累并诱导 Xrp1,影响生长并导致细胞竞争

Francesca Destefanis, Valeria Manara, Stefania Santarelli, Sheri Zola, Marco Brambilla, Giacomo Viola, Paola Maragno, Ilaria Signoria, Gabriella Viero, Maria Enrica Pasini, Marianna Penzo, Paola Bellosta