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

Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision

Srrm3依赖性微外显子对感光细胞转录组的特化作用是维持外节完整性和视觉功能所必需的。

Ciampi, Ludovica; Mantica, Federica; López-Blanch, Laura; Permanyer, Jon; Rodriguez-Marín, Cristina; Zang, Jingjing; Cianferoni, Damiano; Jiménez-Delgado, Senda; Bonnal, Sophie; Miravet-Verde, Samuel; Ruprecht, Verena; Neuhauss, Stephan C F; Banfi, Sandro; Carrella, Sabrina; Serrano, Luis; Head, Sarah A; Irimia, Manuel

The X-linked splicing regulator MBNL3 has been co-opted to restrict placental growth in eutherians

X染色体连锁剪接调节因子MBNL3已被用于限制真兽类胎盘的生长。

Spruce, Thomas; Plass, Mireya; Gohr, André; Ray, Debashish; Martínez de Lagrán, María; Rot, Gregor; Nóvoa, Ana; Burguera, Demian; Permanyer, Jon; Miret, Marta; Zheng, Hong; Swanson, Maurice S; Morris, Quaid; Mallo, Moises; Dierssen, Mara; Hughes, Timothy R; Pernaute, Barbara; Irimia, Manuel

Genome-wide transcriptomic changes reveal the genetic pathways involved in insect migration.

全基因组转录组变化揭示了昆虫迁徙所涉及的遗传途径

Doyle Toby, Jimenez-Guri Eva, Hawkes Will L S, Massy Richard, Mantica Federica, Permanyer Jon, Cozzuto Luca, Hermoso Pulido Toni, Baril Tobias, Hayward Alex, Irimia Manuel, Chapman Jason W, Bass Chris, Wotton Karl R

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1

由PROM1基因过早截断引起的常染色体隐性遗传性视网膜色素变性,伴早期黄斑受累。

Permanyer, Jon; Navarro, Rafael; Friedman, James; Pomares, Esther; Castro-Navarro, Joaquín; Marfany, Gemma; Swaroop, Anand; Gonzàlez-Duarte, Roser

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

用于视网膜色素变性-莱伯氏先天性黑蒙诊断的综合性SNP芯片:新突变及突变创始人效应的检测

Pomares, Esther; Riera, Marina; Permanyer, Jon; Méndez, Pilar; Castro-Navarro, Joaquín; Andrés-Gutiérrez, Angeles; Marfany, Gemma; Gonzàlez-Duarte, Roser

Getting closer to a pre-vertebrate genome: the non-LTR retrotransposons of Branchiostoma floridae

更接近脊椎动物前基因组:佛罗里达文昌鱼的非LTR逆转录转座子

Permanyer, Jon; Albalat, Ricard; Gonzàlez-Duarte, Roser