Novel genetic mutation in myositis-variant of VEXAS syndrome-Reference-Cited by-同舟云学术

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Novel genetic mutation in myositis-variant of VEXAS syndrome

Published:2022-06-17 Issue:12 Volume:61 Page:e371-e373
ISSN:1462-0324
Container-title:Rheumatology
language:en
Short-container-title:

Author:

Topilow James S¹,Ospina Cardona Daniela²^ORCID,Beck David B²³,Ferrada Marcela A⁴,McMahan Zsuzsanna H¹^ORCID,Paik Julie J¹^ORCID

Affiliation:

1. Division of Rheumatology, Department of Medicine, Johns Hopkins University School of Medicine , Baltimore, MD

2. Center for Human Genetics and Genomics

3. Division of Rheumatology, Department of Medicine, New York University School of Medicine , New York, NY

4. National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH , Bethesda, MD, USA

Funder

Department of Health and Human Services

National Institute of Health

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Publisher

Oxford University Press (OUP)

Subject

Pharmacology (medical),Rheumatology

Link

https://academic.oup.com/rheumatology/advance-article-pdf/doi/10.1093/rheumatology/keac356/44372572/keac356.pdf

Reference5 articles.

1. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease;Beck;N Engl J Med,2020

2. Genetics of somatic auto-inflammatory disorders;Poulter;Semin Hematol,2021

3. VEXAS syndrome;Grayson;Blood,2021

4. Successful treatment with azacytidine in VEXAS syndrome with prominent myosfasciitis;Cordts;Rheumatology,2022

5. Extensive multiple organ involvement in VEXAS syndrome;Takahashi;Arthritis Rheumatol,2021

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: Lower limb pseudocellulitis due to calf myositis in VEXAS syndrome;International Journal of Rheumatic Diseases;2024-07

2. Pulmonary manifestation of VEXAS syndrome;BMJ Case Reports;2024-07

3. Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome;Rheumatology;2024-03-29

4. Trismus as a new feature of VEXAS syndrome;Rheumatology;2024-03-06

5. Use of sarilumab in VEXAS syndrome;Rheumatology;2024-02-01

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