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

Biobanking knowledge and donation willingness among musculoskeletal patients in England: a multisite cross-sectional study

英格兰肌肉骨骼疾病患者生物样本库知识及捐赠意愿:一项多中心横断面研究

Boakye Serebour, Tracy; Kerasidou, Angeliki; Gray, Naomi; Griffin, Xavier Luke; Peach, Chris; Singh, Harvinder Pal; Wheway, Kim; Ambrosio, Maria da Graca; Baldwin, Mathew; Snelling, Sarah Jane Bothwell

Detecting and quantifying clonal selection in somatic stem cells

检测和量化体细胞干细胞中的克隆选择

Verena Körber ,Niels Asger Jakobsen ,Naser Ansari-Pour ,Rachel Moore ,Nina Claudino ,Marlen Metzner ,Eva Thielecke ,Franziska Esau ,Batchimeg Usukhbayar ,Mirian Angulo Salazar ,Simon Newman ,Benjamin J L Kendrick ,Adrian H Taylor ,Rasheed Afinowi-Luitz ,Roger Gundle ,Bridget Watkins ,Kim Wheway ,Debra Beazley ,Stephanie G Dakin ,Antony Palmer ,Andrew J Carr ,Paresh Vyas # ,Thomas Höfer #

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis

利用气道上皮转录组分析提升罕见呼吸系统疾病的基因诊断水平

Legebeke, Jelmer; Wheway, Gabrielle; Baker, Lee; Wai, Htoo A; Walker, Woolf T; Thomas, N Simon; Coles, Janice; Jackson, Claire L; Holloway, John W; Lucas, Jane S; Baralle, Diana

Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5(-/-) cell model of retinitis pigmentosa

在视网膜色素变性 AGBL5(-/-) 细胞模型中恢复纤毛发生和高谷氨酰化突变表型

Villa-Vasquez, Suly S; Nazlamova, Liliya; Pengelly, Reuben J; Wilson, David I; Baralle, Diana; Wheway, Gabrielle

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

纤毛病患者的变异揭示了TUBB4B在轴丝微管中的细胞器特异性功能

Daniel O Dodd # ,Sabrina Mechaussier # ,Patricia L Yeyati ,Fraser McPhie ,Jacob R Anderson ,Chen Jing Khoo ,Amelia Shoemark ,Deepesh K Gupta ,Thomas Attard ,Maimoona A Zariwala ,Marie Legendre ,Diana Bracht ,Julia Wallmeier ,Miao Gui ,Mahmoud R Fassad ,David A Parry ,Peter A Tennant ,Alison Meynert ,Gabrielle Wheway ,Lucas Fares-Taie ,Holly A Black ,Rana Mitri-Frangieh ,Catherine Faucon ,Josseline Kaplan ,Mitali Patel ,Lisa McKie ,Roly Megaw ,Christos Gatsogiannis ,Mai A Mohamed ,Stuart Aitken ,Philippe Gautier ,Finn R Reinholt ,Robert A Hirst ,Chris O'Callaghan ,Ketil Heimdal ,Mathieu Bottier ,Estelle Escudier ,Suzanne Crowley ,Maria Descartes ,Ethylin W Jabs ,Priti Kenia ,Jeanne Amiel ,Giacomo Maria Bacci ,Claudia Calogero ,Viviana Palazzo ,Lucia Tiberi ,Ulrike Blümlein ,Andrew Rogers ,Jennifer A Wambach ,Daniel J Wegner ,Anne B Fulton ,Margaret Kenna ,Margaret Rosenfeld ,Ingrid A Holm ,Alan Quigley ,Emma A Hall ,Laura C Murphy ,Diane M Cassidy ,Alex von Kriegsheim ,Laurent Pasquier ,Marlène S Murris ,James D Chalmers ,Claire Hogg ,Kenneth A Macleod ,Don S Urquhart ,Stefan Unger ,Timothy J Aitman ,Serge Amselem ,Margaret W Leigh ,Michael R Knowles ,Heymut Omran ,Hannah M Mitchison ,Alan Brown ,Joseph A Marsh ,Julie P I Welburn ,Shih-Chieh Ti ,Amjad Horani ,Jean-Michel Rozet ,Isabelle Perrault ,Pleasantine Mill

Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging

突变干细胞在人类克隆造血中的选择性优势与炎症和衰老反应减弱有关。

Niels Asger Jakobsen,Sven Turkalj,Andy G X Zeng,Bilyana Stoilova,Marlen Metzner,Susann Rahmig,Murtaza S Nagree,Sayyam Shah,Rachel Moore,Batchimeg Usukhbayar,Mirian Angulo Salazar,Grigore-Aristide Gafencu,Alison Kennedy,Simon Newman,Benjamin J L Kendrick,Adrian H Taylor,Rasheed Afinowi-Luitz,Roger Gundle,Bridget Watkins,Kim Wheway,Debra Beazley,Alex Murison,Alicia G Aguilar-Navarro,Eugenia Flores-Figueroa,Stephanie G Dakin,Andrew J Carr,Claus Nerlov,John E Dick,Stephanie Z Xie,Paresh Vyas

Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure

Racgap1基因敲低会导致细胞胞质分裂失败,从而产生多根纤毛。

Basu, Basudha; Lake, Alice V R; China, Becky; Szymanska, Katarzyna; Wheway, Gabrielle; Bell, Sandra; Morrison, Ewan; Bond, Jacquelyn; Johnson, Colin A

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

巴勒斯坦原发性纤毛运动障碍人群:诊断和遗传谱的初步结果

Rumman, Nisreen; Fassad, Mahmoud R; Driessens, Corine; Goggin, Patricia; Abdelrahman, Nader; Adwan, Adel; Albakri, Mutaz; Chopra, Jagrati; Doherty, Regan; Fashho, Bishara; Freke, Grace M; Hasaballah, Abdallah; Jackson, Claire L; Mohamed, Mai A; Abu Nema, Reda; Patel, Mitali P; Pengelly, Reuben J; Qaaqour, Ahmad; Rubbo, Bruna; Thomas, N Simon; Thompson, James; Walker, Woolf T; Wheway, Gabrielle; Mitchison, Hannah M; Lucas, Jane S

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

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

对智力障碍患者中GRIA1错义和截断变异的鉴定和功能评估:一种新兴的神经发育综合征

Ismail, Vardha; Zachariassen, Linda G; Godwin, Annie; Sahakian, Mane; Ellard, Sian; Stals, Karen L; Baple, Emma; Brown, Kate Tatton; Foulds, Nicola; Wheway, Gabrielle; Parker, Matthew O; Lyngby, Signe M; Pedersen, Miriam G; Desir, Julie; Bayat, Allan; Musgaard, Maria; Guille, Matthew; Kristensen, Anders S; Baralle, Diana