Results 71 to 80 of about 3,419 (164)

VEXAS syndrome : literature review.

Batna Journal of Medical Sciences
VEXAS is an acronym standing for vacuoles, enzyme E1, X-linked, autoinflammatory, and somatic. It designates an autoinflammatory syndrome in adults, first described in 2020, linked to acquired somatic mutations in the UBA1 gene (ubiquitin-activating ...
Abdelhak ABABSA MOUAKI, Ouassila ABBASI
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A Novel Autophagy Regulatory Mechanism that Functions During Programmed Cell Death: A Dissertation

, 2013
Autophagy is a cellular process that delivers cytoplasmic materials for degradation by the lysosomes. Autophagy-related (Atg) genes were identified in yeast genetic screens for vehicle formation under stress conditions, and Atg genes are conserved from ...
Chang, Tsun-Kai
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Deep Learning Based Blood Abnormalities Detection As a Tool for Vexas Syndrome Screening

, 2023
International audienceIntroduction The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) described in 2020 caused by mutations of the UBA1 gene, displayed a large pleomorphic array of clinical and biological features ...
Rault, Emmanuelle, Chevallier, Patrice, Kosmider, Olivier, Normand, Nicolas, Bauvais, Maxence, Graveleau, Julie, Neel, Antoine, Garnier, Alice, Le Roc'H, Valentin, Heiblig, Mael, Richard, Camille, Herault, Olivier, Le Calvez, Baptiste, Le Bris, Yannick, Eveillard, Marion, Jullien, Maxime, Sujobert, Pierre, Peterlin, Pierre, Bouzy, Simon, Paul-Gilloteaux, Perrine, de Almeida Braga, Cedric   +20 more
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Spermiogenesis and male infertility : study of transcripts from UBA1, the gene coding the ubiquitin activating enzyme, and genetic evaluation of two variants in PRM1, the gene coding protamine1

, 2010
Les gènes du chromosomeX sont majoritairement inactivés au cours de la méiose mâle. Chez la souris, seulement 6% d’entre eux sont réactivés au cours des stades post-méiotiques.
Kichine, Elsa
core  

[Two cases of VEXAS syndrome]

, 2022
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly discovered syndrome caused by a somatic mutation in the UBA1 gene, located in the X chromosome.
Tesi, B,, Creignou, M,, Vivar, Pomiano N, Tobiasson, M,, Gunnarsson, K,, Ungerstedt, J,   +5 more
core  

Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review

Cells
VEXAS syndrome, a monogenic X-linked disorder resulting from mutations in the UBA1 gene, has emerged as a key model for unraveling the links between systemic inflammatory or autoimmune diseases (SIAD) and myelodysplastic syndromes (MD).
Louis Wolff, Leo Caratsch, Lin-Pierre Zhao, Sabine Blum, Denis Comte   +4 more
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The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern

Reumatismo
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes.
C. Iannone, M.R. Pellico, C. Campochiaro, L. Tescaro, M. Zompatori, A. Caminati, S. Harari, R. Caporali   +7 more
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An Essential Yeast Gene Encoding a Homolog of Ubiquitin-activating Enzyme

, 1995
Ubiquitin (Ub) activation by the Ub-activating (E1) enzyme is the initial and essential step common to all of the known processes that involve post-translational conjugation of Ub to itself or other proteins.
Forrova, H., Dohmen, RJ., Kolarov, J., Goffeau, André, Stappen, R., Mcgrath, JP., Varshavsky, A.   +6 more
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VEXAS: A review of current understandings and emerging treatment strategies

Frontiers in Immunology
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a late-onset autoinflammatory disorder, typically affecting males, caused by somatic mutations in the X-linked gene UBA1 encoding the E1 ubiquitin-activating enzyme.
Robert Holden, Yogeshraj Jeelall, Yogeshraj Jeelall, Andrew McLean-Tooke, Kylan Pathmanathan, David Nolan   +5 more
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Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report

BMC Nephrology
Background Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by mutations in the ubiquitin-activating enzyme1 (UBA1) gene and characterised by an overlap between autoinflammatory and haematologic disorders.
Natsuki Fukuda, Daisuke Kanai, Kaoru Hoshino, Yuriko Fukuda, Ryutaro Morita, Yuki Ishikawa, Tomohiko Kanaoka, Yoshiyuki Toya, Yohei Kirino, Hiromichi Wakui, Kouichi Tamura   +10 more
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