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

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

Patient-derived tumor organoid and fibroblast assembloid models for interrogation of the tumor microenvironment in esophageal adenocarcinoma

患者来源的肿瘤类器官和成纤维细胞组装体模型用于探究食管腺癌的肿瘤微环境

Benjamin P Sharpe, Liliya A Nazlamova, Carmen Tse, David A Johnston, Jaya Thomas, Rhianna Blyth, Oliver J Pickering, Ben Grace, Jack Harrington, Rushda Rajak, Matthew Rose-Zerilli, Zoe S Walters, Tim J Underwood

Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations

微管修饰缺陷是与前 mRNA 剪接因子突变相关的视网膜色素变性细胞模型中纤毛变性的基础

Liliya Nazlamova, Suly Saray Villa Vasquez, Jenny Lord, Varshini Karthik, Man-Kim Cheung, Jörn Lakowski, Gabrielle Wheway

A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection

一种新型 ACE2 亚型在人类呼吸道上皮细胞中表达,并在干扰素和 RNA 呼吸道病毒感染后上调

Cornelia Blume #, Claire L Jackson #, Cosma Mirella Spalluto, Jelmer Legebeke, Liliya Nazlamova, Franco Conforti, Jeanne-Marie Perotin, Martin Frank, John Butler, Max Crispin, Janice Coles, James Thompson, Robert A Ridley, Lareb S N Dean, Matthew Loxham, Stephanie Reikine, Adnan Azim, Kamran Tariq, 

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

COPB1 中的双等位基因变异会导致一种新的严重智力障碍综合征,并伴有白内障和不同程度的小头畸形

William L Macken #, Annie Godwin #, Gabrielle Wheway #, Karen Stals #, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A Wai, Jay Self, Andrew G L Douglas, Alexander P Kao, Matthew Guille, Diana Baralle

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies

符合 ACMG/AMP 纤毛病临床变异解释指南的 CRISPR 和高内涵成像检测

Liliya Nazlamova, N Simon Thomas, Man-Kim Cheung, Jelmer Legebeke, Jenny Lord, Reuben J Pengelly, William J Tapper, Gabrielle Wheway

Genomic programming of IRF4-expressing human Langerhans cells

表达IRF4的人类朗格汉斯细胞的基因组编程

Sofia Sirvent, Andres F Vallejo, James Davies, Kalum Clayton, Zhiguo Wu, Jeongmin Woo, Jeremy Riddell, Virendra K Chaudhri, Patrick Stumpf, Liliya Angelova Nazlamova, Gabrielle Wheway, Matthew Rose-Zerilli, Jonathan West, Mario Pujato, Xiaoting Chen, Christopher H Woelk, Ben MacArthur, Michael Arder

A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

计算机模拟、体外和临床相结合的方法来表征视网膜色素变性中 PRPF31 的新型致病错义变异

Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad, Samantha Hunt, Nicola Jackson, Amanda Churchill

661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

661W 感光细胞系作为研究视网膜纤毛病的细胞模型

Gabrielle Wheway, Liliya Nazlamova, Dann Turner, Stephen Cross

Signaling through the Primary Cilium

通过初级纤毛进行信号传导

Wheway, Gabrielle; Nazlamova, Liliya; Hancock, John T