文献库，生知库 | 链接生命科学的每一步

日期影响因子

Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder

钙释放激活通道调节剂 2A (CRACR2A) 的双等位基因突变导致原发性免疫缺陷病

影响因子:6.4

doi:10.7554/eLife.72559

Beibei Wu #, Laura Rice #, Jennifer Shrimpton, Dylan Lawless, Kieran Walker, Clive Carter, Lynn McKeown, Rashida Anwar, Gina M Doody, Sonal Srikanth, Yousang Gwack #, Sinisa Savic #

发表日期：2021

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A Case of Adult-Onset Still's Disease Caused by a Novel Splicing Mutation in TNFAIP3 Successfully Treated With Tocilizumab

一例由TNFAIP3基因新型剪接突变引起的成人斯蒂尔病病例，经托珠单抗治疗后获得成功

期刊:Frontiers in Immunology

影响因子:5.7

doi:10.3389/fimmu.2018.01527

Dylan Lawless ，Shelly Pathak ，Thomas Edward Scambler ，Lylia Ouboussad ，Rashida Anwar ，Sinisa Savic

发表日期：2018

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Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

四肽重复域 7A (TTC7A) 的双等位基因突变导致常见变异型免疫缺陷样表型和肠病

期刊:Journal of Clinical Immunology

影响因子:7.2

doi:10.1007/s10875-017-0427-1

Dylan Lawless, Anoop Mistry, Philip M Wood, Jens Stahlschmidt, Gururaj Arumugakani, Mark Hull, David Parry, Rashida Anwar, Clive Carter, Sinisa Savic

发表日期：2017

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An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas

人类脂肪肉瘤中 MDM2 和 MDMX 蛋白表达水平及其对 P53 的影响的观察性研究

期刊:BMC Clinical Pathology

doi:10.1186/1472-6890-13-32

Nader Touqan, Christine P Diggle, Edlo T Verghese, Sarah Perry, Kieran Horgan, William Merchant, Rashida Anwar, Alexander F Markham, Ian M Carr, Rajgopal Achuthan

发表日期：2013

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Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype

快速可视化微阵列拷贝数数据，用于检测与疾病表型相关的结构变异

期刊:PLoS One

影响因子:2.9

doi:10.1371/journal.pone.0043466.

Ian M Carr ,Christine P Diggle, Kamron Khan, Chris Inglehearn, Martin McKibbin, David T Bonthron, Alexander F Markham, Rashida Anwar, Angus Dobbie, Sergio D J Pena, Manir Ali

发表日期：2012

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