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Opportunistic Infections, Mortality Risk, and Prevention Strategies in Patients With Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome.
- Published in:
- Open Forum Infectious Diseases, 2024, v. 11, n. 7, p. 1, doi. 10.1093/ofid/ofae405
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- Publication type:
- Article
A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40223-y
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- Publication type:
- Article
VEXAS syndrome: A review of bone marrow aspirate and biopsies reporting myeloid and erythroid precursor vacuolation.
- Published in:
- European Journal of Haematology, 2023, v. 110, n. 6, p. 633, doi. 10.1111/ejh.13944
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- Publication type:
- Article
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 129, doi. 10.1007/s10048-019-00578-1
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- Publication type:
- Article
Novel genetic mutation in myositis-variant of VEXAS syndrome.
- Published in:
- 2022
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- Publication type:
- Case Study
Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00101
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- Publication type:
- Article
Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome.
- Published in:
- Arthritis & Rheumatology, 2023, v. 75, n. 7, p. 1285, doi. 10.1002/art.42471
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- Publication type:
- Article
VEXAS Syndrome and Disease Taxonomy in Rheumatology.
- Published in:
- Arthritis & Rheumatology, 2022, v. 74, n. 11, p. 1733, doi. 10.1002/art.42258
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- Publication type:
- Article
VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis.
- Published in:
- Arthritis & Rheumatology, 2022, v. 74, n. 4, p. 665, doi. 10.1002/art.41992
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- Publication type:
- Article
VEXAS syndrome with systemic lupus erythematosus: expanding the spectrum of associated conditions.
- Published in:
- 2022
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- Publication type:
- Letter to the Editor
The use of leukocytes' secretome to individually target biological therapy in autoimmune arthritis: a case report.
- Published in:
- Clinical & Translational Medicine, 2019, v. 8, n. 1, p. 1, doi. 10.1186/s40169-019-0236-7
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- Publication type:
- Article
The use of leukocytes' secretome to individually target biological therapy in autoimmune arthritis: a case report.
- Published in:
- Clinical & Translational Medicine, 2019, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40169-019-0236-7
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- Publication type:
- Article
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 917, doi. 10.1007/s10875-020-00817-3
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- Publication type:
- Article
Human iPSC-Derived Neuronal Cells From CTBP1 -Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks.
- Published in:
- Frontiers in Neuroscience, 2020, p. N.PAG, doi. 10.3389/fnins.2020.562292
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- Publication type:
- Article
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00256-y
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- Publication type:
- Article
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
- Published in:
- JAMA: Journal of the American Medical Association, 2023, v. 329, n. 4, p. 318, doi. 10.1001/jama.2022.24836
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- Publication type:
- Article
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1366, doi. 10.1002/ajmg.a.62102
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- Publication type:
- Article
Skin Manifestations of VEXAS Syndrome and Associated Genotypes.
- Published in:
- JAMA Dermatology, 2024, v. 160, n. 8, p. 822, doi. 10.1001/jamadermatol.2024.1657
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- Publication type:
- Article
Shared and distinct mechanisms of UBA1 inactivation across different diseases.
- Published in:
- EMBO Journal, 2024, v. 43, n. 10, p. 1919, doi. 10.1038/s44318-024-00046-z
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- Publication type:
- Article