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

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

尿源性肾上皮细胞用于法布里病的深度表型分析和转录组治疗反应研究

Sudhindar Praveen Dhondurao, Orr Sarah E, Miller-Hodges Eve, Molinari Elisa, Wood Katrina, Srivastava Shalabh, Miles Colin G, Mabillard Holly R, Sentell Zachary T, Trevisan-Herraz Marco, Arcila-Galvis Juliana E, Sayer John A

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome

CEP164基因的双等位基因变异会导致一种类似运动性纤毛病的综合征。

Devlin, Laura A; Coles, Janice; Jackson, Claire L; Barroso-Gil, Miguel; Green, Ben; Walker, Woolf T; Thomas, N Simon; Thompson, James; Rock, Simon A; Neatu, Ruxandra; Powell, Laura; Molinari, Elisa; Wilson, Ian J; Cordell, Heather J; Olinger, Eric; Miles, Colin G; Sayer, John A; Wheway, Gabrielle; Lucas, Jane S

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

TULP3基因突变导致儿童和成人出现进行性肝脏、肾脏和心脏退化

Devane, John; Ott, Elisabeth; Olinger, Eric G; Epting, Daniel; Decker, Eva; Friedrich, Anja; Bachmann, Nadine; Renschler, Gina; Eisenberger, Tobias; Briem-Richter, Andrea; Grabhorn, Enke Freya; Powell, Laura; Wilson, Ian J; Rice, Sarah J; Miles, Colin G; Wood, Katrina; Trivedi, Palak; Hirschfield, Gideon; Pietrobattista, Andrea; Wohler, Elizabeth; Mezina, Anya; Sobreira, Nara; Agolini, Emanuele; Maggiore, Giuseppe; Dahmer-Heath, Mareike; Yilmaz, Ali; Boerries, Melanie; Metzger, Patrick; Schell, Christoph; Grünewald, Inga; Konrad, Martin; König, Jens; Schlevogt, Bernhard; Sayer, John A; Bergmann, Carsten

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

小鼠遗传学研究揭示了 Barttin 是 Joubert 综合征的遗传修饰因子。

Ramsbottom, Simon A; Thelwall, Peter E; Wood, Katrina M; Clowry, Gavin J; Devlin, Laura A; Silbermann, Flora; Spiewak, Helena L; Shril, Shirlee; Molinari, Elisa; Hildebrandt, Friedhelm; Gunay-Aygun, Meral; Saunier, Sophie; Cordell, Heather J; Sayer, John A; Miles, Colin G

microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs

软骨的microRNA测序结果显示miR-140-3p过量表达,其中含有功能性异构体miRNA。

Woods, Steven; Charlton, Sarah; Cheung, Kat; Hao, Yao; Soul, Jamie; Reynard, Louise N; Crowe, Natalie; Swingler, Tracey E; Skelton, Andrew J; Piróg, Katarzyna A; Miles, Colin G; Tsompani, Dimitra; Jackson, Robert M; Dalmay, Tamas; Clark, Ian M; Barter, Matt J; Young, David A

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

针对 CEP290 突变的靶向外显子跳跃可在体外和鼠模型中挽救 Joubert 综合征表型。

Ramsbottom, Simon A; Molinari, Elisa; Srivastava, Shalabh; Silberman, Flora; Henry, Charline; Alkanderi, Sumaya; Devlin, Laura A; White, Kathryn; Steel, David H; Saunier, Sophie; Miles, Colin G; Sayer, John A

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants

人尿来源的肾上皮细胞为了解肾脏特异性可变剪接提供了重要信息

Molinari, Elisa; Decker, Eva; Mabillard, Holly; Tellez, James; Srivastava, Shalabh; Raman, Shreya; Wood, Katrina; Kempf, Caroline; Alkanderi, Sumaya; Ramsbottom, Simon A; Miles, Colin G; Johnson, Colin A; Hildebrandt, Friedhelm; Bergmann, Carsten; Sayer, John A