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Journal Articles

Molecular and clinical presentation of UBA1 -mutated myelodysplastic syndromes

Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E. Arango Ossa, Olivier Kosmider, Robert Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Birgitta Sander, Elisa Orna, Katharina Zoldan, Lea Naomi Eder, Wolfgang R. Sperr, Renate Thalhammer, Christina Ganster, Lionel Adès, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B. Beck, Eva Hellström-Lindberg, Elli Papaemmanuil

Blood (2024) 144 (11): 1221–1229.

https://doi.org/10.1182/blood.2023023723

Published: 2024

Includes: Supplemental data

Journal Articles

Venous and arterial thrombosis in patients with VEXAS syndrome

Blood (2024) 143 (21): 2190–2200.

https://doi.org/10.1182/blood.2023022329

Published: 2024

Includes: Supplemental data

Journal Articles

Genotype-Phenotype Mapping Via Single-Cell Multi-Omics Identifies Therapeutic Vulnerabilities in Vexas Syndrome

Saravanan Ganesan, Rebecca Murray, Jesus Sotelo, Theo Botella, Elliot Eton, Nada Chraiki, Carolyne Croizier, Franco Izzo, Catherine Potenski, Benjamin Terrier, Mael Heiblig, Pierre Sujobert, Olivier Kosmider, David B Beck, Dan A. Landau

Blood (2023) 142 (Supplement 1): 813.

https://doi.org/10.1182/blood-2023-184313

Published: 2023

Journal Articles

UBA1 Mutations Identify a Rare but Distinct Subtype of Myelodysplastic Syndromes

Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E Arango Ossa, Olivier Kosmider, Robert Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Andrea Pellagatti, Harold K Elias, Detlef Haase, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Sole, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B Beck, Eva Hellstrom Lindberg, Elli Papaemmanuil

Blood (2023) 142 (Supplement 1): 1862.

https://doi.org/10.1182/blood-2023-182949

Published: 2023

Journal Articles

Characterization of MDS and CMML Patients Harboring Trisomy 8 Abnormality: Clinical, Autoimmune, and Mutational Features

Hussain Alcassab, Koji Sasaki, Danielle E. Hammond, Alex Bataller, David B Beck, Tapan M. Kadia, Guillermo Montalban-Bravo, Kelly S. Chien, L. Jeffrey Medeiros, Hagop Kantarjian, Awdesh Kalia, Manjunath Nimmakayalu, Carlos E. Bueso-Ramos, Guillermo Garcia-Manero, Rashmi Kanagal-Shamanna

Blood (2023) 142 (Supplement 1): 1881.

https://doi.org/10.1182/blood-2023-190464

Published: 2023

Journal Articles

Spectrum of clonal hematopoiesis in VEXAS syndrome

Blood (2023) 142 (3): 244–259.

https://doi.org/10.1182/blood.2022018774

Published: 2023

Includes: Supplemental data

Journal Articles

Clonal Hematopoiesis in Vexas Syndrome

Blood (2022) 140 (Supplement 1): 5745–5746.

https://doi.org/10.1182/blood-2022-160263

Published: 2022

Journal Articles

Novel Disease-Causing Mutations in UBA1 Reveal Disease Mechanisms in Bone Marrow Failure and Inflammation

Jason C Collins, Nicholas Balanda, Samuel J Magaziner, Maya English, Daniela Ospina Cardona, Mrinal M. Patnaik, Benjamin Terrier, Olivier Kosmider, Achim Werner, David B. Beck

Blood (2022) 140 (Supplement 1): 2914–2915.

https://doi.org/10.1182/blood-2022-168031

Published: 2022

Journal Articles

Thrombotic Manifestations in Patients with Vexas Syndrome

Pedro E. Alcedo Andrade, Ruba Shalhoub, Alina Dulau-Florea, Khanh Nghiem, Marcela Ferrada, Lorena Wilson, Ivana Darden, Wendy Goodspeed, Katherine R. Calvo, David B. Beck, Daniel L. Kastner, Peter C. Grayson, Neal S. Young, Colin O. Wu, Yogendra Kanthi, Bhavisha A. Patel, Emma M. Groarke

Blood (2022) 140 (Supplement 1): 2788–2789.

https://doi.org/10.1182/blood-2022-163608

Published: 2022

Journal Articles

DNMT3A/TET2 Mutant Clonal Hematopoiesis in Vexas Syndrome Results in DNA Hypomethylation and Transcriptional Activation of WT1 and MPL Oncogenic Pathways

Jenna A. Fernandez, Bhavisha A. Patel, Fernanda Gutierrez-Rodrigues, Yael Kusne, Terra Lasho, Christy Finke, Matthew Koster, Abhishek A. Mangaonkar, Naseema Gangat, Kenneth Warrington, Kaaren K. Reichard, Horatiu Olteanu, Peter C. Grayson, Neal S. Young, David B. Beck, Mrinal M. Patnaik

Blood (2022) 140 (Supplement 1): 11410–11411.

https://doi.org/10.1182/blood-2022-167359

Published: 2022

Journal Articles

Incidence, Clinical Associations, and Co-Mutation Patterns of UBA1 Mutations in MDS

Maria Sirenko, Elsa Bernard, David B. Beck, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E Arango, Olivier Kosmider, Robert P. Hasserjian, Martin Jadersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Matilde Y Follo, Felicitas R. Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Christina Ganster, Lionel Ades, Magnus Tobiasson, Laura Palomo, Matteo G. Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio Pires de Souza Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, Eva Hellström-Lindberg, Elli Papaemmanuil

Blood (2022) 140 (Supplement 1): 9785–9788.

https://doi.org/10.1182/blood-2022-162397

Published: 2022

Journal Articles

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Blood (2022) 140 (13): 1496–1506.

https://doi.org/10.1182/blood.2022016985

Published: 2022

Includes: Supplemental data

Journal Articles

Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study

Blood (2022) 140 (8): 927–931.

https://doi.org/10.1182/blood.2022016642

Published: 2022

Includes: Supplemental data

Journal Articles

Clinical Efficacy of JAK Inhibitors in Patients with Vexas Syndrome: A Multicenter Retrospective Study

Blood (2021) 138 (Supplement 1): 2608.

https://doi.org/10.1182/blood-2021-150394

Published: 2021

Journal Articles

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

James A. Poulter, Jason C. Collins, Catherine Cargo, Ruth M. De Tute, Paul Evans, Daniela Ospina Cardona, David T. Bowen, Joanna R. Cunnington, Elaine Baguley, Mark Quinn, Michael Green, Dennis McGonagle, David B. Beck, Achim Werner, Sinisa Savic

Blood (2021) 137 (26): 3676–3681.

https://doi.org/10.1182/blood.2020010286

Published: 2021

Includes: Supplemental data

Journal Articles

Myelodysplasia and Bone Marrow Manifestations of Somatic UBA1 Mutated Autoinflammatory Disease

Ifeyinwa Emmanuela Obiorah, MBBS,PhD, David B. Beck, MDPhD, Weixin Wang, PhD, Amanda Ombrello, MD, Marcela A Ferrada, MD, Zhijie Wu, MD, Keith A Sikora, MD, Megan A Trick, Alina Dulau-Florea, MD, Bhavisha A Patel, MD, Emma Groarke, MD, Shawn M. Burgess, PhD, Achim A Werner, PhD, Ivona A Aksentijevich, MD, Neal S. Young, MD, Daniel L Kastner, MDPhD, Peter C Grayson, MD, Katherine R. Calvo, MD PhD

Blood (2020) 136 (Supplement 1): 20–21.

https://doi.org/10.1182/blood-2020-140480

Published: 2020

Journal Articles

Somatic Mutations in a Single Residue of UBA1 Cause Vexas, a Severe Adult-Onset Rheumatic Disease Associated with Myeloid Dysplasia

David B. Beck, MDPhD, Zhijie Wu, MD, Bhavisha A Patel, MD, Marcela A Ferrada, MD, Keith A Sikora, MD, Amanda Ombrello, MD, Alina E. Dulau Florea, MD, Weixin Wang, PhD, Emma M. Groarke, MD, Shawn M. Burgess, PhD, Ivona A Aksentijevich, MD, Achim A Werner, PhD, Neal S. Young, MD, Katherine R. Calvo, MD PhD, Daniel L Kastner, MDPhD, Peter C Grayson, MD

Blood (2020) 136 (Supplement 1): 36–37.

https://doi.org/10.1182/blood-2020-141949

Published: 2020

NARROW

Molecular and clinical presentation of UBA1 -mutated myelodysplastic syndromes

Venous and arterial thrombosis in patients with VEXAS syndrome

Genotype-Phenotype Mapping Via Single-Cell Multi-Omics Identifies Therapeutic Vulnerabilities in Vexas Syndrome

UBA1 Mutations Identify a Rare but Distinct Subtype of Myelodysplastic Syndromes

Characterization of MDS and CMML Patients Harboring Trisomy 8 Abnormality: Clinical, Autoimmune, and Mutational Features

Spectrum of clonal hematopoiesis in VEXAS syndrome

Clonal Hematopoiesis in Vexas Syndrome

Novel Disease-Causing Mutations in UBA1 Reveal Disease Mechanisms in Bone Marrow Failure and Inflammation

Thrombotic Manifestations in Patients with Vexas Syndrome

DNMT3A/TET2 Mutant Clonal Hematopoiesis in Vexas Syndrome Results in DNA Hypomethylation and Transcriptional Activation of WT1 and MPL Oncogenic Pathways

Incidence, Clinical Associations, and Co-Mutation Patterns of UBA1 Mutations in MDS

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study

Clinical Efficacy of JAK Inhibitors in Patients with Vexas Syndrome: A Multicenter Retrospective Study

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

Myelodysplasia and Bone Marrow Manifestations of Somatic UBA1 Mutated Autoinflammatory Disease

Somatic Mutations in a Single Residue of UBA1 Cause Vexas, a Severe Adult-Onset Rheumatic Disease Associated with Myeloid Dysplasia

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American Society of Hematology

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ASH Publications

American Society of Hematology

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