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December 31, 2025
Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2
Oskar Schnappauf, Hongying Wang, Qing Zhou, et al.
Blood
|
March 2, 2026
Inflammatory cell death and monocyte dysfunction in VEXAS syndrome
Paul Breillat, Samuel J Magaziner, Stéphane M Camus, et al.
Neurogenetics
|
May 2, 2019
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity
David B Beck, T Subramanian, S Vijayalingam, et al.
The Journal of Experimental Medicine
|
February 27, 2025
The common HAQ STING allele prevents clinical penetrance of COPA syndrome
Noa Simchoni, Shogo Koide, Maryel Likhite, et al.
The EMBO Journal
|
February 15, 2024
Shared and distinct mechanisms of UBA1 inactivation across different diseases
Jason C Collins, Samuel J Magaziner, Maya English, et al.
Biorxiv : the Preprint Server for Biology
|
October 24, 2023
Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases
Jason C Collins, Samuel J Magaziner, Maya English, et al.
JAMA
|
January 24, 2023
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population
David B Beck, Dale L Bodian, Vandan Shah, et al.
Mayo Clinic Proceedings
|
September 7, 2021
Clinical Heterogeneity of the VEXAS Syndrome: A Case Series
Matthew J Koster, Taxiarchis Kourelis, Kaaren K Reichard, et al.
Cell Reports. Medicine
|
August 16, 2023
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS
Zhijie Wu, Shouguo Gao, Qingyan Gao, et al.
Blood Advances
|
August 24, 2021
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1
Ifeyinwa Emmanuela Obiorah, Bhavisha A Patel, Emma M Groarke, et al.
Page
of 9
Search research articles
Search
Showing results (51-60 of 83) with videos related to
Sort By:
Page
of 9
Research Square
|
December 31, 2025
Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2
Oskar Schnappauf, Hongying Wang, Qing Zhou, et al.
Blood
|
March 2, 2026
Inflammatory cell death and monocyte dysfunction in VEXAS syndrome
Paul Breillat, Samuel J Magaziner, Stéphane M Camus, et al.
Neurogenetics
|
May 2, 2019
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity
David B Beck, T Subramanian, S Vijayalingam, et al.
The Journal of Experimental Medicine
|
February 27, 2025
The common HAQ STING allele prevents clinical penetrance of COPA syndrome
Noa Simchoni, Shogo Koide, Maryel Likhite, et al.
The EMBO Journal
|
February 15, 2024
Shared and distinct mechanisms of UBA1 inactivation across different diseases
Jason C Collins, Samuel J Magaziner, Maya English, et al.
Biorxiv : the Preprint Server for Biology
|
October 24, 2023
Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases
Jason C Collins, Samuel J Magaziner, Maya English, et al.
JAMA
|
January 24, 2023
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population
David B Beck, Dale L Bodian, Vandan Shah, et al.
Mayo Clinic Proceedings
|
September 7, 2021
Clinical Heterogeneity of the VEXAS Syndrome: A Case Series
Matthew J Koster, Taxiarchis Kourelis, Kaaren K Reichard, et al.
Cell Reports. Medicine
|
August 16, 2023
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS
Zhijie Wu, Shouguo Gao, Qingyan Gao, et al.
Blood Advances
|
August 24, 2021
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1
Ifeyinwa Emmanuela Obiorah, Bhavisha A Patel, Emma M Groarke, et al.
Page
of 9