Results 121 to 130 of about 4,126 (198)
VEXAS syndrome in a Moroccan patient: the story of a two-year diagnostic lag
European Journal of Case Reports in Internal MedicineBackground: VEXAS syndrome, also known as vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome, is a newly identified genetic condition characterised by a combination of autoinflammatory symptoms and myeloid dysplasia.
Abire Allaoui +6 more
doaj +1 more source
The N-terminal methionine of cellular proteins as a degradation signal [PDF]
The Arg/N-end rule pathway targets for degradation proteins that bear specific unacetylated N-terminal residues while the Ac/N-end rule pathway targets proteins through their N-infinity-terminally acetylated (Nt-acetylated) residues.
Cho, H +5 more
core +1 more source
ReumatismoBackground: VEXAS syndrome and Schnitzler’s disease are rare adult-onset autoinflammatory conditions that often present with overlapping clinical and laboratory features, particularly in the early stages.
Società Italiana di Reumatologia
doaj
Novel Use of Siltuximab in a Patient with Somatic UBA1 Mutated VEXAS Syndrome
Abstract VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an increasingly recognized disorder that occurs due to somatic mutations of a ubiquitin-activating enzyme encoded by ubiquitin-like modifier activating enzyme 1 gene, UBA1.
Beatriz Cáceres-Nazario +4 more
openaire +1 more source
Praćenje kromosomskih aberacija u medicinskog osoblja profesionalno izloženog djelovanju rendgenskih zrka [PDF]
, 1998 The decrease of unstable chromosomal damages (dicentrics, rings and acentric fragments) was observed in circulating peripheral blood lymphocytes after exposure to ionizing radiation.
Karmela Šentija +2 more
core +1 more source
CHARACTERIZATION OF THE UBIQUITIN LIGASE, UBE4B, IN ENDOCYTIC TRAFFICKING [PDF]
, 2017 Endocytosis is a process by which cells internalize membrane proteins to remove them from the plasma membrane, allowing cells to regulate the cell surface expression of transmembrane proteins.
Sirisaengtaksin, Natalie +1 more
core +1 more source
HaematologicaBackground: VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an autoinflammatory disorder caused by UBA1 mutation. It manifests with inflammatory symptoms and commonly macrocytic anemia, which in up to 50% of cases meets WHO ...
G. Furnari +28 more
doaj
BMC NephrologyBackground 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 +10 more
doaj +1 more source
VEXAS syndrome: Focus on dermatological manifestations and their histopathological correlate
JEADV Clinical PracticeBackground VEXAS ‘Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome’ is a rare autoinflammatory syndrome, first described in October 2020 by Beck et al.
Sofie Engelen +10 more
doaj +1 more source
Clinical, laboratory and genetic characteristics of VEXAS syndrome: a study on behalf of GESMD
Frontiers in ImmunologyVEXAS syndrome (‘Vacuoles’, ‘E1 enzyme’, ‘X-linked’, ‘Autoinflammatory’ and ‘Somatic’) is a rare autoinflammatory disorder caused by somatic mutations in the UBA1 (ubiquitin-like modifier-activating enzyme 1) gene whose treatment and prognosis remain ...
Marta Fonseca-Santos +74 more
doaj +1 more source