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

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.

在多种遗传性视网膜疾病的小鼠模型中,自噬破坏和线粒体应激先于感光细胞坏死

Newton Fay, Halachev Mihail, Nguyen Linda, McKie Lisa, Mill Pleasantine, Megaw Roly

Tissue-specific consequences of tag fusions on protein expression in transgenic mice.

标签融合对转基因小鼠蛋白质表达的组织特异性影响

Taylor Gillian C A, Macdonald Lewis, Szulc Natalia A, Gudauskaite Evelina, Hernandez Moran Brianda, Brisbane Jennifer M, Donald Molly, Taylor Ella, Zheng Dejin, Gu Bin, Mill Pleasantine, Yeyati Patricia L, Pokrzywa Wojciech, Ribeiro de Almeida Claudia, Wood Andrew J

Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives

遗传性视网膜营养不良的单细胞转录组学:最新发现与新兴视角

Nguyen, Linda; Vallejos, Catalina A; Mill, Pleasantine; Megaw, Roly

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies

小鼠模型在罕见先天性异常患者诊断历程中的作用

Twigg, Stephen R F; Greene, Nicholas D E; Henderson, Deborah J; Mill, Pleasantine; Liu, Karen J

Not all are the same: the power of registries in defining genotype-phenotype relationships in primary ciliary dyskinesia

并非所有情况都相同:登记系统在定义原发性纤毛运动障碍的基因型-表型关系中的作用

Horani, Amjad; Mill, Pleasantine

Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping

除了通过系统建模和表型分析进行先天性心脏缺陷的基因组研究之外

Henderson, Deborah J; Alqahtani, Ahlam; Chaudhry, Bill; Cook, Andrew; Eley, Lorraine; Houyel, Lucile; Hughes, Marina; Keavney, Bernard; de la Pompa, José Luis; Sled, John; Spielmann, Nadine; Teboul, Lydia; Zaffran, Stephane; Mill, Pleasantine; Liu, Karen J

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

全基因组测序增强了原发性纤毛运动障碍的分子诊断

Black, Holly A; de Proce, Sophie Marion; Campos, Jose L; Meynert, Alison; Halachev, Mihail; Marsh, Joseph A; Hirst, Robert A; O'Callaghan, Chris; Shoemark, Amelia; Toddie-Moore, Daniel; Santoyo-Lopez, Javier; Murray, Jennie; Macleod, Kenneth; Urquhart, Don S; Unger, Stefan; Aitman, Timothy J; Mill, Pleasantine

Primary cilia as dynamic and diverse signalling hubs in development and disease

纤毛作为发育和疾病中动态且多样化的信号枢纽

Mill, Pleasantine; Christensen, Søren T; Pedersen, Lotte B

The cilia mechanosensation debate gets (bio)physical

纤毛机械感觉之争逐渐演变为(生物)物理学层面的争论。

Wachten, Dagmar; Mill, Pleasantine

A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease

TGFβ-ECM-整合素信号轴驱动胆管结构重构,从而促进多囊肝病的发生。

Waddell, Scott H; Yao, Yuelin; Olaizola, Paula; Walker, Alexander; Jarman, Edward J; Gournopanos, Konstantinos; Gradinaru, Andreea; Christodoulou, Ersi; Gautier, Philippe; Boerrigter, Melissa M; Cadamuro, Massimiliano; Fabris, Luca; Drenth, Joost Ph; Kendall, Timothy J; Banales, Jesus M; Khamseh, Ava; Mill, Pleasantine; Boulter, Luke