Concepedia

Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

Naomi Tsuchida, Yosuke Kunishita, Yuri Uchiyama, Yohei Kirino, Makiko Enaka, Yukie Yamaguchi, Masataka Taguri, Shoji Yamanaka, Kaoru Takase‐Minegishi, Ryusuke Yoshimi,

Annals of the Rheumatic Diseases · 2021 · 132 citations · 16 references

Concepts

Life SciencesGeneticsMolecular GeneticsHuman GeneticsImmunopathologyMedical GeneticsGenetic DisordersSomatic Variant InterpretationVariant InterpretationDigital PcrGenomic Dna AnalysisNucleic Acid AmplificationPathogenic Germline VariantsPathogenic Variant DetectionSomatic Variant AnalysisSomatic Variant DetectionVexas Syndrome

References

16

Revised International Prognostic Scoring System for Myelodysplastic Syndromes

Peter L. Greenberg, Heinz Tuechler, Julie Schanz et al. · Blood · 2012 · 3.1K citations · Full text

Medicine, Hematology, Internal Medicine +12

Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease

David B. Beck, Marcela A. Ferrada, Keith A. Sikora et al. · New England Journal of Medicine · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

RELAPSING POLYCHONDRITIS

LAWRENCE P. McADAM, MICHAEL A. OʼHANLAN, Rodney Bluestone et al. · Medicine · 1976 · 961 citations

Medicine, Immunology, Immunopathology +1

Relapsing Polychondritis

McKenna Ch, O'Fallon Wm · Annals of Internal Medicine · 1986 · 697 citations

Veterinary Medicine, Infectious Diseases, Immunopathology +9

Relapsing polychondritis — REPORT OF TEN CASES

Joseph M. Damiani, Howard L. Levine · The Laryngoscope · 1979 · 632 citations

Medicine, Pathology, Histopathology +8