Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

68 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi… See abstract for full author list ➔ Küry S, et al. Among authors: beck db. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.
Sirenko M, Bernard E, Creignou M, Domenico D, Farina A, Arango Ossa JE, Kosmider O, Hasserjian RP, Jädersten M, Germing U, Sanz GF, van de Loosdrecht AA, Gurnari C, Follo MY, Thol FR, Zamora L, Pinheiro RF, Pellagatti A, Elias HK, Haase DT, Sander B, Orna E, Zoldan K, Eder LN, Sperr WR, Thalhammer R, Ganster C, Adès L, Tobiasson M, Palomo L, Della Porta MG, Huberman KH, Fenaux P, Belickova M, Savona MR, Klimek V, Santos FPS, Boultwood J, Kotsianidis I, Santini V, Sole F, Platzbecker U, Heuser M, Valent P, Finelli C, Voso MT, Shih LY, Ogawa S, Fontenay M, Jansen JH, Cervera J, Ebert BL, Bejar R, Greenberg PL, Gattermann N, Malcovati L, Cazzola M, Beck DB, Hellstrom-Lindberg ES, Papaemmanuil E. Sirenko M, et al. Among authors: beck db. Blood. 2024 Apr 30:blood.2023023723. doi: 10.1182/blood.2023023723. Online ahead of print. Blood. 2024. PMID: 38687605
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Oda H, Manthiram K, Chavan PP, Rieser E, Veli Ö, Kaya Ö, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Çelik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipour-Olyei N, Carapito R, Xu Q, Preite S, Beck DB, Chae JJ, Nehrebecky M, Ombrello AK, Hoffmann P, Romeo T, Deuitch NT, Matthíasardóttir B, Mullikin J, Komarow H, Stoddard J, Niemela J, Dobbs K, Sweeney CL, Anderton H, Lawlor KE, Yoshitomi H, Yang D, Boehm M, Davis J, Mudd P, Randazzo D, Tsai WL, Gadina M, Kaplan MJ, Toguchida J, Mayer CT, Rosenzweig SD, Notarangelo LD, Iwai K, Silke J, Schwartzberg PL, Boisson B, Casanova JL, Bahram S, Rao AP, Peltzer N, Walczak H, Lalaoui N, Aksentijevich I, Kastner DL. Oda H, et al. Among authors: beck db. Nat Immunol. 2024 May;25(5):764-777. doi: 10.1038/s41590-024-01817-w. Epub 2024 Apr 12. Nat Immunol. 2024. PMID: 38609546
Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong MK, Ho G, Tormo M, Yagüe J, Shon W, Wallace D, Casals F, Beck DB, Abuav R, Arostegui JI. Ospina Cardona D, et al. Among authors: beck db. Rheumatology (Oxford). 2024 Mar 29:keae201. doi: 10.1093/rheumatology/keae201. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 38552317
Shared and distinct mechanisms of UBA1 inactivation across different diseases.
Collins JC, Magaziner SJ, English M, Hassan B, Chen X, Balanda N, Anderson M, Lam A, Fernandez-Pol S, Kwong B, Greenberg PL, Terrier B, Likhite ME, Kosmider O, Wang Y, Samara NL, Walters KJ, Beck DB, Werner A. Collins JC, et al. Among authors: beck db. EMBO J. 2024 Feb 15. doi: 10.1038/s44318-024-00046-z. Online ahead of print. EMBO J. 2024. PMID: 38360993 Free article.
Venous and Arterial Thrombosis in Patients with VEXAS Syndrome.
Kusne Y, Ghorbanzadeh A, Dulau Florea A, Shalhoub RN, Alcedo Andrade PE, Nghiem K, Ferrada MA, Hines A, Quinn KA, Panicker SR, Ombrello AK, Reichard KK, Darden I, Goodspeed W, Durrani J, Wilson L, Olteanu H, Lasho TL, Kastner DL, Warrington KJ, Mangaonkar AA, Go RS, Braylan RC, Beck DB, Patnaik MM, Young NS, Calvo KR, Casanegra A, Grayson PC, Koster MJ, Wu CO, Kanthi Y, Patel BA, Houghton DE, Groarke EM. Kusne Y, et al. Among authors: beck db. Blood. 2024 Feb 2:blood.2023022329. doi: 10.1182/blood.2023022329. Online ahead of print. Blood. 2024. PMID: 38306657
Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases.
Collins JC, Magaziner SJ, English M, Hassan B, Chen X, Balanda N, Anderson M, Lam A, Fernandez-Pol S, Kwong B, Greenberg PL, Terrier B, Likhite ME, Kosmider O, Wang Y, Samara NL, Walters KJ, Beck DB, Werner A. Collins JC, et al. Among authors: beck db. bioRxiv [Preprint]. 2023 Oct 10:2023.10.10.561769. doi: 10.1101/2023.10.10.561769. bioRxiv. 2023. PMID: 37873213 Free PMC article. Updated. Preprint.
Clonal Hematopoiesis, Inflammation, and Hematologic Malignancy.
Kanagal-Shamanna R, Beck DB, Calvo KR. Kanagal-Shamanna R, et al. Among authors: beck db. Annu Rev Pathol. 2024 Jan 24;19:479-506. doi: 10.1146/annurev-pathmechdis-051222-122724. Epub 2023 Oct 13. Annu Rev Pathol. 2024. PMID: 37832948 Free article. Review.
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS.
Wu Z, Gao S, Gao Q, Patel BA, Groarke EM, Feng X, Manley AL, Li H, Ospina Cardona D, Kajigaya S, Alemu L, Quinones Raffo D, Ombrello AK, Ferrada MA, Grayson PC, Calvo KR, Kastner DL, Beck DB, Young NS. Wu Z, et al. Among authors: beck db. Cell Rep Med. 2023 Aug 15;4(8):101160. doi: 10.1016/j.xcrm.2023.101160. Cell Rep Med. 2023. PMID: 37586319 Free PMC article.
68 results