Results 11 to 20 of about 4,126 (198)

VEXAS syndrome with p.Met41Leu UBA1 gene mutation misdiagnosed as tumid lupus: A series of 3 cases

JAAD Case Reports
Alicia Mizes, MD, Mark M. Ash, MD, Christopher T. Richardson, MD, PhD   +2 more
doaj   +6 more sources

Mutation of the Gene Encoding the Ubiquitin Activating Enzyme Uba1 Causes Tissue Overgrowth in Drosophila [PDF]

Fly, 2007
Protein ubiquitination has been shown to regulate a wide variety of cellular process including cell cycle progression, protein trafficking and apoptosis. Most regulation of ubiquitination occurs at the level of E2 or E3 enzymes and their interactions with specific substrates. In a screen for mutations that cause tissue overgrowth, we recovered multiple
Cathie M. Pfleger, Kieran F. Harvey, Hua Yan, Iswar K. Hariharan   +3 more
exaly   +4 more sources

UBA1 Mutations Identify a Rare but Distinct Subtype of Myelodysplastic Syndromes [PDF]

Blood, 2023
Background Mutations in UBA1 are associated with VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, an adult-onset inflammatory disorder (Beck DB et al. NEJM 2020). Approximately 40% of VEXAS patients are also diagnosed with myelodysplastic syndromes (MDS).
Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan Arango Ossa, Olivier Kosmider, Robert P. Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Y. Follo, Felicitas Thol, Lurdes Zamora, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Christina Ganster, Lionel Adès, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Beličková, Michael R. Savona, Virginia M. Klimek, Fábio Pires de Souza Santos, Jacqueline Boultwood, Ιoannis Kotsianidis, Valeria Santini, Françesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee‐Yung Shih, Seishi Ogawa, Michaëla Fontenay, Joop H. Jansen, José Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B. Beck, Eva Hellström Lindberg, Elli Papaemmanuil   +52 more
openalex   +3 more sources

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease [PDF]

New England Journal of Medicine, 2020
Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders.We analyzed peripheral-blood exome sequence data independent of clinical phenotype and inheritance pattern to identify deleterious mutations in ubiquitin ...
David B. Beck, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins, Wuhong Pei, Nicholas Balanda, Daron L. Ross, Daniela Ospina Cardona, Zhijie Wu, Bhavisha A. Patel, Kalpana Manthiram, Emma M. Groarke, Fernanda Gutierrez‐Rodrigues, Patrycja Hoffmann, Sofia Rosenzweig, Shuichiro Nakabo, Laura W. Dillon, Christopher S. Hourigan, Wanxia Li Tsai, Sarthak Gupta, Carmelo Carmona‐Rivera, Anthony J. Asmar, Lisha Xu, Hirotsugu Oda, Wendy Goodspeed, Karyl S. Barron, Michele Nehrebecky, Anne Jones, Ryan S. Laird, Natalie Deuitch, Dorota Rowczenio, Emily Rominger, Kristina V Wells, Chyi‐Chia Richard Lee, Weixin Wang, Megan Trick, James C. Mullikin, Gustaf Wigerblad, Stephen R. Brooks, Stefania Dell’Orso, Zuoming Deng, Jae Jin Chae, Alina Dulau‐Florea, May Christine V. Malicdan, Danica Novacic, Robert A. Colbert, Mariana J. Kaplan, Massimo Gadina, Sinisa Savic, Helen J. Lachmann, Mones Abu‐Asab, Benjamin D. Solomon, Kyle Retterer, William A. Gahl, Shawn M. Burgess, Ivona Aksentijevich, Neal S. Young, Katherine R. Calvo, Achim Werner, Daniel L. Kastner, Peter C. Grayson   +61 more
openalex   +7 more sources

OP0090 CLASSIFICATION OF PATIENTS WITH RELAPSING POLYCHONDRITIS BASED ON SOMATIC MUTATIONS IN UBA1 [PDF]

Annals of the Rheumatic Diseases, 2021
Background: Somatic mutations in ubiquitin activating enzyme 1 (UBA1) cause a newly defined syndrome known as VEXAS. [1] More than fifty percent of patients currently identified with VEXAS meet diagnostic criteria for relapsing polychondritis (RP). Objectives: To determine the prevalence VEXAS within a cohort of patients with RP, to compare their ...
Marcela A. Ferrada, Keith A. Sikora, Yanyan Lou, Kristina V Wells, Bhavisha A. Patel, Daniela Ospina Cardona, Emily Rose, Wendy Goodspeed, P C Hoffman, Anne Jones, Lorena Wilson, Neal S. Young, Sinisa Savic, Daniel L. Kastner, Amanda K. Ombrello, David B. Beck, Peter C. Grayson   +16 more
openalex   +2 more sources

Clonal haematopoiesis and UBA1 mutations in individuals with biopsy-proven giant cell arteritis and population-based controls [PDF]

Rheumatology, 2023
Contains fulltext : 304772.pdf (Publisher’s version ) (Open Access)
Jonas B. Salzbrunn, Isabelle A. van Zeventer, Aniek O. de Graaf, Priscilla Kamphuis, Maaike G.J.M. van Bergen, Yannick van Sleen, Bert A. van der Reijden, Jan Jacob Schuringa, Elisabeth Brouwer, Arjan Diepstra, Joop H. Jansen, Gerwin Huls   +11 more
openalex   +6 more sources

P01 Severe adult-onset inflammatory disorder with associated UBA1 somatic mutation [PDF]

British Journal of Dermatology, 2023
Abstract A 70-year-old man was admitted to the hospital with a 2-week history of fatigue, florid erythematous maculopapular rash, elevated inflammatory markers and thrombocytopenia. A skin biopsy was performed that showed features in keeping with Sweet syndrome, which was initially thought to relate to concurrent gastrointestinal sepsis.
Evangelia Vetsiou, S. K. Smith, Karina Forde, Sarah McDonald, Duncan Brian, Andre Khoo   +5 more
openalex   +2 more sources

Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1 [PDF]

Blood Advances, 2021
Abstract Somatic mutations in UBA1 involving hematopoietic stem and myeloid cells have been reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Here, we report clinical hematologic manifestations and unique bone marrow (BM) features in 16 patients with VEXAS. All patients
Ifeyinwa E. Obiorah, Bhavisha A. Patel, Emma M. Groarke, Weixin Wang, Megan Trick, Amanda K. Ombrello, Marcela A. Ferrada, Zhijie Wu, Fernanda Gutierrez‐Rodrigues, Jennifer Lotter, Lorena Wilson, Patrycja Hoffmann, Daniela Ospina Cardona, Nisha Patel, Alina Dulau‐Florea, Daniel L. Kastner, Peter C. Grayson, David B. Beck, Neal S. Young, Katherine R. Calvo   +19 more
openalex   +3 more sources

Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS [PDF]

Journal of Allergy and Clinical Immunology, 2021
A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were characterized by adult-onset, treatment-refractory inflammation with fever, cytopenia, dysplastic bone marrow, vacuoles in myeloid and erythroid progenitor cells, cutaneous and pulmonary ...
Caspar I. van der Made, Judith Potjewijd, Annemiek Hoogstins, Huub P J Willems, Arjan J. Kwakernaak, Ruud G.L. de Sévaux, Paul Van Daele, Annet Simons, Marloes W Heijstek, David B. Beck, Mihai G. Netea, Pieter van Paassen, A. Elizabeth Hak, Lars T. van der Veken, Mariëlle van Gijn, Alexander Hoischen, Frank L. van de Veerdonk, Helen L. Leavis, Abraham Rutgers   +18 more
openalex   +10 more sources

Absence of NLRP3 somatic mutations and VEXAS‐related UBA1 mutations in a large cohort of patients with Schnitzler syndrome [PDF]

Allergy, 2022
No abstract ...
Camille Louvrier, Fawaz Awad, Serge Amselem, Dan Lipsker, Irina Giurgea   +4 more
openalex   +4 more sources