A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts-Reference-Cited by-同舟云学术

A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts

Published:2022-04-02 Issue:5 Volume:42 Page:947-951
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Poulter James,Gough Andrew,Isaacs John D.,Green Michael,McHugh Neil,Hordon Lesley,Kamath Sanjeet,Nisar Mohammed,Patel Yusuf,Yee Cee-Seng,Stevens Robert,Nandi Pradip,Nandagudi Anupama,Jarrett Stephen,Li Charles,Levy Sarah,Mollan Susan,Salih Abdel,Makie Sarah,Wordsworth Oliver,Sanders Emma,Roads Esme,Gill Anne,Carr Lisa,Routledge Christine,Culfear Karen,Nugaliyadde Asanka,James Lynne,Spimpolo Jenny,Kempa Andy,Mackenzie Felicity,Fong Rosanna,Peters Genessa,Rowbotham Bridie,Masqood Zahira,Hollywood Jane,Gondo Prisca,Wood Rose,Martin Steve,Rashid Lubna Haroon,Robinson James I.,Morgan Mike,Sorensen Louise,Taylor John,Khan Alesia,Grey Mark,Andjelic Bosko,Nga Emma,Triantafyllopoulou Diana,Evans Paul,Morgan Ann,Cargo Catherine,Savic Sinisa^ORCID, ,

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

https://link.springer.com/content/pdf/10.1007/s10875-022-01258-w.pdf

Reference5 articles.

1. Poulter JA, Savic S. Genetics of somatic auto-inflammatory disorders. Semin Hematol. 2021.

2. Zhao LP, Schell B, Sebert M, Kim R, Lemaire P, Boy M, et al. Prevalence of UBA1 mutations in MDS/CMML patients with systemic inflammatory and auto-immune disease. Leukemia. 2021;35(9):2731–3.

3. Carrel L, Clemson CM, Dunn JM, Miller AP, Hunt PA, Lawrence JB, et al. X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. Hum Mol Genet. 1996;5(3):391–401.

4. Shaukat F, Hart M, Burns T, Bansal P. UBA1 and DNMT3A mutations in VEXAS syndrome. a case report and literature review. Mod Rheumatol Case Rep. 2021.

5. Rossignol J, Marzac C, Dellal A, Belfeki N, Jachiet V, Slaoui M, et al. UBA1 gene mutation in giant cell arteritis. Clin Rheumatol. 2022.

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