Results 141 to 150 of about 3,419 (164)

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Neuromuscular Disorders, 2013
Infantile-onset X-linked spinal muscular atrophy (SMAX2) is a rare lethal disorder linked to mutations in the UBA1 (previously UBE1) gene, encoding ubiquitin-activating enzyme 1 that has an important role in the ubiquitin-proteasome pathway. Published pathological reports are scarce.
Nomazulu Dlamini, Simon Paine, Matthew Pitt   +2 more
exaly   +5 more sources

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X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype

Neuromuscular Disorders, 2020
X-linked infantile spinal muscular atrophy (SMAX2), OMIM 301830, is a rare, severe form of spinal muscular atrophy, caused by variants in the Ubiquitin like modifier-activating enzyme 1 (UBA1) gene. Clinical features reported to date include marked hypotonia, areflexia, arthrogryposis, contractures, myopathic facies and tongue fibrillations.
Niamh Shaughnessy, Declan O'Rourke, Sally Ann Lynch   +2 more
exaly   +3 more sources

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

Neuromuscular Disorders, 2015
Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal movements ...
Maria Jędrzejowska, Elżbieta Jakubowska-Pietkiewicz, Anna Kostera-Pruszczyk   +2 more
exaly   +3 more sources

Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy

European Journal of Neurology, 2022
AbstractBackground and purposeSpinal–bulbar muscular atrophy (SBMA) (Kennedy's disease) is a motor neuron disease. Kennedy's disease is nearly exclusively caused by mutations in the androgen receptor encoding gene (AR). The results of studies aimed at identification of the genetic cause of a disease that best approximates SBMA in a pedigree (four ...
Marzieh Khani, Shahriar Nafissi, Hosein Shamshiri, Hamidreza Moazzeni, Hanieh Taheri, Mehdi Sadeghi, Najmeh Salehi, Fereshteh Chitsazian, Elahe Elahi   +8 more
openaire   +2 more sources

Ubiquitin-Activating Enzyme E1 (UBA1) as a Prognostic Biomarker and Therapeutic Target in Breast Cancer: Insights into Immune Infiltration and Functional Implications

International Journal of Molecular Sciences
Ubiquitin-Activating Enzyme E1 (UBA1), an E1 enzyme involved in the activation of ubiquitin enzymes, has been involved in the onset and progression of different cancers in humans.
Mingtao Feng, Liangdong Li, Changshuai Zhou   +2 more
exaly   +2 more sources

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

Bone Abstracts, 2015
Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal movements ...
Maria Jedrzejowska, Anna Kostera-Pruszczyk, Elzbieta Jakubowska-Pietkiewicz   +2 more
openaire   +1 more source

UBA1 gene mutation in giant cell arteritis

Clinical Rheumatology, 2022
Julien Rossignol, Christophe Marzac, Azeddine Dellal, Nabil Belfeki, Vincent Jachiet, Mounia Slaoui, Davy Benarroche, Sophie Georgin-Lavialle, Eric Solary, Olivier Hermine, Olivier Fain, Arsène Mekinian   +11 more
openaire   +2 more sources

AB1275 SUGGESTED APPROACH TO UBA1 GENE MUTATION TESTING IN PATIENTS WITH SUSPECTED VEXAS SYNDROME

Annals of the Rheumatic Diseases, 2022
K. Pavelcova, B. Stiburkova, V. Balajková, M. Belickova, C. Salek, M. Vostry, H. Mann, J. Vencovský   +7 more
openaire   +1 more source

Topic: AS01-Diagnosis/AS01c-Molecular aberrations (cytogenetic, genetic, gene expression): A CARTOGRAPHY OF UBA1 GENE TESTING, EPIDEMIOLOGY AND CLINICAL-GENOMIC CHARACTERISTICS: THE VEXAS/MDS ITALIAN EXPERIENCE

Leukemia Research, 2023
C. Gurnari, M.R. Pascale, A. Vitale, E. Diral, E. Galossi, G. Falconi, A. Bruno, F. Crisafulli, M. Frassi, C. Cattaneo, D. Bertoli, M. Bernardi, A. Condorelli, E. Morsia, E. Crisà, P. Triggianese, L. Brussino, G. Battipaglia, S. Bindoli, P. Sfriso, F. Caroni, A. Olivieri, S. Kordasti, F. Albano, F. Pane, P. Musto, M. Bocchia, E. Lugli, A. Rambaldi, R. Greco, F. Franceschini, F. Ciceri, L. Cantarini, M.T. Voso   +33 more
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X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey.

Molecular syndromology
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 UBA1 gene lead to SMAX2.
Özden, Öztürk, Büşra Eser, Çavdartepe, Haydar, Bağış   +2 more
openaire   +1 more source