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

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia

针对罕见呼吸系统疾病的高通量药物筛选:原发性纤毛运动障碍的读通疗法

Lee, Dani Do Hyang; Cardinale, Daniela; Nigro, Ersilia; Butler, Colin R; Rutman, Andrew; Fassad, Mahmoud R; Hirst, Robert A; Moulding, Dale; Agrotis, Alexander; Forsythe, Elisabeth; Peckham, Daniel; Robson, Evie; Smith, Claire M; Somavarapu, Satyanarayana; Beales, Philip L; Hart, Stephen L; Janes, Sam M; Mitchison, Hannah M; Ketteler, Robin; Hynds, Robert E; O'Callaghan, Christopher

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation

原发性睫状肌运动障碍相关MCIDAS突变引起的脑积水和弥漫性脉络丛增生

Robson, Evie Alexandra; Dixon, Luke; Causon, Liam; Dawes, William; Benenati, Massimo; Fassad, Mahmoud; Hirst, Robert Anthony; Kenia, Priti; Moya, Eduardo Fernandez; Patel, Mitali; Peckham, Daniel; Rutman, Andrew; Mitchison, Hannah M; Mankad, Kshitij; O'Callaghan, Christopher

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

LRRC56 的双等位基因突变编码一种与鞭毛内运输相关的蛋白质,导致粘液纤毛清除和侧向性缺陷

Bonnefoy Serge, Watson Christopher M, Kernohan Kristin D, Lemos Moara, Hutchinson Sebastian, Poulter James A, Crinnion Laura A, Berry Ian, Simmonds Jennifer, Vasudevan Pradeep, O'Callaghan Chris, Hirst Robert A, Rutman Andrew, Huang Lijia, Hartley Taila, Grynspan David, Moya Eduardo, Li Chunmei, Carr Ian M, Bonthron David T, Leroux Michel, Boycott Kym M, Bastin Philippe, Sheridan Eamonn G

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

CCDC103 p.His154Pro 突变的高发率导致原发性纤毛运动障碍,该突变会破坏蛋白质寡聚化,并且与正常的诊断检查结果相关。

Shoemark, Amelia; Moya, Eduardo; Hirst, Robert A; Patel, Mitali P; Robson, Evelyn A; Hayward, Jane; Scully, Juliet; Fassad, Mahmoud R; Lamb, William; Schmidts, Miriam; Dixon, Mellisa; Patel-King, Ramila S; Rogers, Andrew V; Rutman, Andrew; Jackson, Claire L; Goggin, Patricia; Rubbo, Bruna; Ollosson, Sarah; Carr, Siobhán; Walker, Woolf; Adler, Beryl; Loebinger, Michael R; Wilson, Robert; Bush, Andrew; Williams, Hywel; Boustred, Christopher; Jenkins, Lucy; Sheridan, Eamonn; Chung, Eddie M K; Watson, Christopher M; Cullup, Thomas; Lucas, Jane S; Kenia, Priti; O'Callaghan, Christopher; King, Stephen M; Hogg, Claire; Mitchison, Hannah M

Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia

纤毛圆锥形上皮细胞突起提示原发性纤毛运动障碍的诊断。

O'Callaghan, Chris; Rutman, Andrew; Williams, Gwyneth; Kulkarni, Neeta; Hayes, Joseph; Hirst, Robert A

Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid

在气液界面培养原发性纤毛运动障碍上皮细胞可能会改变纤毛表型,但仍然是一种可靠且信息丰富的诊断辅助手段。

Hirst, Robert A; Jackson, Claire L; Coles, Janice L; Williams, Gwyneth; Rutman, Andrew; Goggin, Patricia M; Adam, Elizabeth C; Page, Anthony; Evans, Hazel J; Lackie, Peter M; O'Callaghan, Christopher; Lucas, Jane S

The behaviour of both Listeria monocytogenes and rat ciliated ependymal cells is altered during their co-culture

单核细胞增生李斯特菌和鼠纤毛室管膜细胞在共培养过程中,二者的行为均发生改变。

Fadaee-Shohada, Mina J; Hirst, Robert A; Rutman, Andrew; Roberts, Ian S; O'Callaghan, Chris; Andrew, Peter W

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

放射状辐条头蛋白基因RSPH9和RSPH4A的突变会导致原发性纤毛运动障碍,并伴有中心微管对异常。

Castleman, Victoria H; Romio, Leila; Chodhari, Rahul; Hirst, Robert A; de Castro, Sandra C P; Parker, Keith A; Ybot-Gonzalez, Patricia; Emes, Richard D; Wilson, Stephen W; Wallis, Colin; Johnson, Colin A; Herrera, Rene J; Rutman, Andrew; Dixon, Mellisa; Shoemark, Amelia; Bush, Andrew; Hogg, Claire; Gardiner, R Mark; Reish, Orit; Greene, Nicholas D E; O'Callaghan, Christopher; Purton, Saul; Chung, Eddie M K; Mitchison, Hannah M

Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia

纤毛摆动模式与原发性纤毛运动障碍的特定超微结构缺陷相关

Chilvers, Mark A; Rutman, Andrew; O'Callaghan, Christopher

Streptococcus pneumoniae damages the ciliated ependyma of the brain during meningitis

肺炎链球菌在脑膜炎期间会损害脑室管膜的纤毛。

Hirst, Robert A; Gosai, Bejal; Rutman, Andrew; Andrew, Peter W; O'Callaghan, Christopher