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David B Beck

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Articles 65
Citations 2323
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Recent Articles
11.
Kusne Y, Ghorbanzadeh A, Dulau-Florea A, Shalhoub R, Alcedo P, Nghiem K, et al.
Blood . 2024 Feb; 143(21):2190-2200. PMID: 38306657
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, caused by somatic mutations in UBA1, is an autoinflammatory disorder with diverse systemic manifestations. Thrombosis is a prominent clinical feature of VEXAS...
12.
Kury S, Stanton J, van Woerden G, Hsieh T, Rosenfelt C, Scott-Boyer M, et al.
medRxiv . 2024 Jan; PMID: 38293138
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. In our comprehensive study,...
13.
Collins J, Magaziner S, English M, Hassan B, Chen X, Balanda N, et al.
bioRxiv . 2023 Oct; PMID: 37873213
Most cellular ubiquitin signaling is initiated by UBA1, which activates and transfers ubiquitin to tens of E2 enzymes. Clonally acquired missense mutations cause an inflammatory-hematologic overlap disease called VEXAS (vacuoles,...
14.
Kanagal-Shamanna R, Beck D, Calvo K
Annu Rev Pathol . 2023 Oct; 19:479-506. PMID: 37832948
Somatic or acquired mutations are postzygotic genetic variations that can occur within any tissue. These mutations accumulate during aging and have classically been linked to malignant processes. Tremendous advancements over...
15.
Wu Z, Gao S, Gao Q, Patel B, Groarke E, Feng X, et al.
Cell Rep Med . 2023 Aug; 4(8):101160. PMID: 37586319
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a pleiotropic, severe autoinflammatory disease caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. To elucidate VEXAS...
16.
Asmar A, Abrams S, Hsin J, Collins J, Yazejian R, Wu Y, et al.
Nat Commun . 2023 Jul; 14(1):4499. PMID: 37495603
The molecular mechanisms that coordinate patterning of the embryonic ectoderm into spatially distinct lineages to form the nervous system, epidermis, and neural crest-derived craniofacial structures are unclear. Here, biochemical disease-variant...
17.
Ding Y, Dulau-Florea A, Groarke E, Patel B, Beck D, Grayson P, et al.
Blood Adv . 2023 Jul; 7(20):6151-6155. PMID: 37477595
No abstract available.
18.
Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, et al.
Blood . 2023 Apr; 142(3):244-259. PMID: 37084382
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations in UBA1 (UBA1mut) and characterized by heterogenous systemic autoinflammation and progressive hematologic manifestations, meeting criteria for myelodysplastic...
19.
Cherniawsky H, Friedmann J, Nicolson H, Dehghan N, Stubbins R, Foltz L, et al.
Eur J Haematol . 2023 Feb; 110(6):633-638. PMID: 36788756
Myeloid and erythroid precursor vacuolation is a common dysplastic finding associated with myeloid malignancies, toxins, drug, and nutritional deficiencies. It has been described as a core morphologic feature in VEXAS...
20.
Stiburkova B, Pavelcova K, Belickova M, Magaziner S, Collins J, Werner A, et al.
Arthritis Rheumatol . 2023 Feb; 75(7):1285-1290. PMID: 36762418
Objective: Somatic mutations in UBA1 have recently been causally linked to a severe adult-onset inflammatory condition referred to as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Ubiquitin-activating enzyme E1...