Results 161 to 170 of about 2,418 (172)

Looking for somatic mutations in UBA1 in patients with chronic myelomonocytic leukemia associated with systemic inflammation and autoimmune diseases

Leukemia & Lymphoma, 2021
Henry, Dupuy, Charles, Dussiau, Audrey, Bidet, Mathieu, Sauvezie, Anne-Charlotte, De-Grande, Joël, Decombe, Étienne, Rivière, Edouard, Forcade, Fabrice, Bonnet, Pierre-Yves, Dumas, Pierre, Duffau, Arnaud, Pigneux, Jean-François, Viallard, Estibaliz, Lazaro, Sophie, Dimicoli-Salazar   +14 more
openaire   +2 more sources

Classification of Patients with Relapsing Polychondritis Based on Somatic Mutations in UBA1

2021
Ferrada, M, Sikora, K, Lou, Y, Wells, K, Patel, B, Cardona, DO, Rose, E, Goodspeed, W, Hoffman, P, Jones, A, Wilson, L, Young, N, Savic, S, Kastner, D, Ombrello, A, Beck, D, Grayson, P   +16 more
openaire   +1 more source

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

Brain, 2018
Hannah K Shorrock, Dinja Van Der Hoorn, Maica Llavero Hurtado   +2 more
exaly  

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene

Neuromuscular Disorders, 2015
Maria Jędrzejowska, Elżbieta Jakubowska-Pietkiewicz, Anna Kostera-Pruszczyk   +2 more
exaly  

Classification of Patients with Relapsing Polychondritis Based on Somatic Mutations in UBA1

2020
Ferrada, M, Sikora, K, Savic, S, Luo, Y, Wells, K, Rose, E, Quinn, K, Goodspeed, W, Jones, A, Le, M, Ombrello, A, Deng, Z, Gadina, M, Tsai, W, Aksentijevich, I, Kastner, D, Beck, D, Grayson, PC   +17 more
openaire   +1 more source

Shared and distinct mechanisms of UBA1 inactivation across different diseases

EMBO Journal
Jason C Collins, Samuel J Magaziner, Maya English   +2 more
exaly  

Three UBA1 clones for a unique VEXAS syndrome

Rheumatology
Benjamin Podvin, Olivier Nibourel, Alice Marceau-Renaut   +2 more
exaly  

Hypomethylating agents for patients with VEXAS without myelodysplastic syndrome: Clinical outcome and longitudinal follow‐up of vacuolization and UBA1 clonal dynamics

British Journal of Haematology
Susana Plaza, Virginia Fabregat, Jordi Yagüe   +2 more
exaly  

A comprehensive prognostic and immune infiltration analysis of UBA1 in pan‐cancer: A computational analysis and in vitro experiments

Journal of Cellular and Molecular Medicine
Can Chen, Yiwei Li, Pengfei Shi
exaly  

Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome

Rheumatology
Ayaka Maeda, Naomi Tsuchida, Yuri Uchiyama   +2 more
exaly