Literature DB >> 34077651

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease.

Jean-Benoit Arlet1, Benjamin Terrier2, Olivier Kosmider2.   

Abstract

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Year:  2021        PMID： 34077651     DOI： 10.1056/NEJMc2102124

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  10 in total

1.  UBA1 gene mutation in giant cell arteritis.

Authors:  Julien Rossignol; Christophe Marzac; Azeddine Dellal; Nabil Belfeki; Vincent Jachiet; Mounia Slaoui; Davy Benarroche; Sophie Georgin-Lavialle; Eric Solary; Olivier Hermine; Olivier Fain; Arsène Mekinian
Journal:  Clin Rheumatol       Date:  2022-01-30       Impact factor: 2.980

Review 2.  [Autoinflammation-differences between children and adults].

Authors:  Martin Krusche; Tilmann Kallinich
Journal:  Z Rheumatol       Date:  2021-11-11       Impact factor: 1.372

Review 3.  Update on VEXAS and role of allogeneic bone marrow transplant: Considerations on behalf of the Chronic Malignancies Working Party of the EBMT.

Authors:  Carmelo Gurnari; Donal P McLornan
Journal:  Bone Marrow Transplant       Date:  2022-08-08       Impact factor: 5.174

Review 4.  Somatic mutations in rheumatological diseases: VEXAS syndrome and beyond.

Authors:  Keith A Sikora; Kristina V Wells; Ertugrul Cagri Bolek; Adrianna I Jones; Peter C Grayson
Journal:  Rheumatology (Oxford)       Date:  2022-08-03       Impact factor: 7.046

5.  VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome).

Authors:  Ryan J Stubbins; Eric McGinnis; Bhupinder Johal; Luke Yc Chen; Lorena Wilson; Daniela Ospina Cardona; Thomas J Nevill
Journal:  Haematologica       Date:  2022-04-01       Impact factor: 9.941

6.  Thrombosis in VEXAS syndrome.

Authors:  Thet Mon Oo; Jie Tian Jeanette Koay; Siew Fen Lee; Shang Ming Samuel Lee; Xin Rong Lim; Bingwen Eugene Fan
Journal:  J Thromb Thrombolysis       Date:  2021-11-24       Impact factor: 2.300

Review 7.  Disorders of ubiquitylation: unchained inflammation.

Authors:  David B Beck; Achim Werner; Daniel L Kastner; Ivona Aksentijevich
Journal:  Nat Rev Rheumatol       Date:  2022-05-06       Impact factor: 32.286

Review 8.  VEXAS Syndrome: A Novelty in MDS Landscape.

Authors:  Marie Templé; Olivier Kosmider
Journal:  Diagnostics (Basel)       Date:  2022-06-29

9.  Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients.

Authors:  Mohamed-Yacine Khitri; Alexis F Guedon; Sophie Georgin-Lavialle; Benjamin Terrier; David Saadoun; Julie Seguier; Maelle le Besnerais; Claire De Moreuil; Guillaume Denis; Mathieu Gerfaud-Valentin; Jean Sebastien Allain; Alexandre Maria; Laurence Bouillet; Vincent Grobost; Joris Galland; Olivier Kosmider; Anael Dumont; Mathilde Devaux; Benjamin Subran; Jean Schmidt; Paola Marianetti-Guingel; Sylvain Audia; Sylvain Palat; Marielle Roux-Sauvat; Vincent Jachiet; Pierre Hirsch; Olivier Fain; Arsène Mekinian
Journal:  RMD Open       Date:  2022-07

Review 10.  Vasculitis associated with VEXAS syndrome: A literature review.

Authors:  Ryu Watanabe; Manami Kiji; Motomu Hashimoto
Journal:  Front Med (Lausanne)       Date:  2022-08-15
  10 in total

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