Results 1 to 10 of about 3,419 (164)

A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome [PDF]

Human Genome Variation
UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway.
Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi   +8 more
doaj   +5 more sources

Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome [PDF]

Rheumatology
Abstract Objective Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a complex immune disorder consequence of somatic UBA1 variants. Most reported pathogenic UBA1 variants are missense or splice site mutations directly impairing the translational start site at p.Met41, with ...
Daniela Ospina Cardona, Anna Mensa-Vilaro, Marc Tormo   +2 more
exaly   +5 more sources

X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey. [PDF]

Mol Syndromol, 2022
Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the <i>UBA1</i> gene lead to SMAX2.
Öztürk Ö, Çavdartepe BE, Bağış H.
europepmc   +2 more sources

A rapid, accessible real-time PCR approach to identify UBA1 somatic mutations in VEXAS syndrome [PDF]

Frontiers in Medicine
BackgroundVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset autoinflammatory disease caused by somatic mutations in the X-linked UBA1 gene, most commonly affecting codon 41.
Luisa Agnello, Luisa Agnello, Caterina Maria Gambino, Caterina Maria Gambino, Lidia La Barbera, Anna Masucci, Roberta Vassallo, Francesco Cacciabaudo, Mauro Midiri, Concetta Scazzone, Anna Maria Ciaccio, Giuliana Guggino, Marcello Ciaccio, Marcello Ciaccio   +13 more
doaj   +2 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, Iswar K Hariharan   +2 more
exaly   +2 more sources

Clinical characteristics and a screening tool for VEXAS syndrome: a case-control study from China [PDF]

Orphanet Journal of Rare Diseases
Background VEXAS syndrome is a severe autoinflammatory disease characterized by systemic inflammation, rheumatic manifestations, and hematologic abnormalities. Its clinical heterogeneity and overlap with other conditions complicate diagnosis.
Menghui Yao, Min Shen, Chengjin Huang, Yang Jiao, Yue Sha, Xianyong Jiang, Xiaoxi Yang, Jun Feng, Na Xu, Weiguo Zhu, Valentin Lacombe, Jose Manuel Mascaro, Juan I. Arostegui, Yun Zhang, Xuejun Zeng   +14 more
doaj   +2 more sources

P778: A CARTOGRAPHY OF UBA1 GENE TESTING, EPIDEMIOLOGY AND CLINICAL-GENOMIC CHARACTERISTICS: THE VEXAS ITALIAN EXPERIENCE [PDF]

Hemasphere, 2023
Gurnari C, Rosaria Pascale M, Vitale A, Diral E, Tomelleri A, Galossi E, Falconi G, Bruno A, Crisafulli F, Frassi M, Cattaneo C, Bertoli D, Bernardi M, Condorelli A, Morsia E, Crisà E, Triggianese P, Borsellino B, Brussino L, Battipaglia G, Bindoli S, Sfrisio P, Caroni F, Curti A, Papayannidis C, Olivieri A, Kordasti S, Albano F, Pane F, Musto P, Bocchia M, Lugli E, Breccia M, Frigeni M, Dagna L, Greco R, Franceschini F, Campochiaro C, Cantarini L, Teresa Voso M.   +39 more
europepmc   +3 more sources

The profile of clinical and laboratory features of Chinese VEXAS syndrome patients with hematological abnormalities: a single-center case series [PDF]

Frontiers in Immunology
ObjectivesVEXAS syndrome is a recently characterized hemato-inflammatory disorder caused by somatic mutations in the X-linked UBA1 gene in hematopoietic cells, which remains poorly characterized in Chinese populations. This study aims to address this gap.
Xiang Ren, Xiang Ren, Xiang Ren, Min Wang, Min Wang, Min Wang, Jiali Huo, Jiali Huo, Jiali Huo, Yujiao Jia, Yujiao Jia, Jigang Xiao, Jigang Xiao, Neng Nie, Neng Nie, Neng Nie, Jinbo Huang, Jinbo Huang, Jinbo Huang, Jing Zhang, Jing Zhang, Jing Zhang, Xin Zhao, Xin Zhao, Xin Zhao, Liwei Fang, Liwei Fang, Liwei Fang, Guangxin Peng, Guangxin Peng, Guangxin Peng, Li Zhang, Li Zhang, Li Zhang, Fengkui Zhang, Fengkui Zhang, Fengkui Zhang, Yizhou Zheng, Yizhou Zheng, Yizhou Zheng, Jun Shi, Jun Shi, Jun Shi, Meili Ge, Meili Ge, Meili Ge   +45 more
doaj   +2 more sources

A fatal case of VEXAS syndrome with a brief review [PDF]

Journal of Vascular Surgery Cases and Innovative Techniques
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described adult-onset autoinflammatory condition characterized by somatic mutations in the X-linked UBA1 gene.
Grant Stoltman, BA, Rashid Skeik, BS, Jesse Manunga, MD, Nedaa Skeik, MD   +3 more
doaj   +2 more sources

VEXAS syndrome: cutaneous manifestations and UBA1 gene variants in the diagnosis of a rare autoinflammatory syndrome - Case report. [PDF]

An Bras Dermatol
Crivelatti I, Souza SM, Dimatos OC, Funchal GDG, Soares AM, Pereira AA.   +5 more
europepmc   +5 more sources