Results 101 to 110 of about 3,419 (164)

A new disorder to keep in mind: VEXAS syndrome

Revista da Sociedade Portuguesa de Dermatologia e Venereologia
The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), which has recently been described, is a monogenic autoinflammatory syndrome that primarily affects males and has its onset in adulthood.
Egídio Freitas, Miguel Nogueira, Ana M. Lé, André Coelho, Inês Lobo   +4 more
doaj  

<i>UBA1-CDK16</i>: A female-specific chimeric RNA emerging through evolution and involved in immune regulation. [PDF]

Sci Adv
Shi X, Blackburn L, Singh S, Glowczyk-Gluc M, Tajammal A, Zahra S, Kumar S, Cornelison R, Liang C, Qin F, Liu A, Lin S, Tang Y, Elfman J, Manley T, Bullock T, Haverstick DM, Wu P, Li H.   +18 more
europepmc   +1 more source

PO:22:033 | Unraveling VEXAS syndrome: when skin manifestations and monoclonal gammopathy precede hematological myeloid alterations

Reumatismo
Background. VEXAS (Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic) syndrome is a rare adult disease caused by somatic mutations in the UBA1 gene within hematopoietic stem cells (1). These mutations compromise the ubiquitin-activating E1 enzyme
Società Italiana di Reumatologia
doaj  

Drug-Free Remission of VEXAS Syndrome Without Stem Cell Transplantation. [PDF]

Cureus
Warren J, Smylie C, Milne A.
europepmc   +1 more source

VEXAS syndrome: a comprehensive clinicopathologic and genetic analysis of a predominantly Indian cohort. [PDF]

J Hematop
Chinnam D, Kerkar A, Gulati R, Bhatia P, Sreedharanunni S, Sharma P, Singh M, Shah S, Baskaran N, Puligari R, Ganju NA, Mruthyunjaya P, K S L, Bishnoi A, De D, Veeravalli SCM, Khushoo V, Ganju AK, Padhan P, Antony P, Gupta V, Balakrishnan A, Sharma A, Gupta DG, Sharma A, Malhotra P.   +25 more
europepmc   +1 more source

CDH4/UBA1/RBMX axis promotes polycystic ovary syndrome progression through YAP1 activation. [PDF]

Cell Mol Biol Lett
Xu N, Yu B, Li Y, Yang Y, Wang Y, Fang L, Wu H, Luan Y, Yin C.   +8 more
europepmc   +1 more source

Síndrome VEXAS: manifestações cutâneas e variações do gene UBA1 no diagnóstico de síndrome autoinflamatória rara – Relato de caso

Anais Brasileiros de Dermatologia (Versão em Português)
Isabel Crivelatti, Shirley Massimo de Souza, Oscar Cardoso Dimatos, Gabriella Di Giunta Funchal, Andressa Miozzo Soares, Amanda Amaro Pereira   +5 more
openaire   +1 more source

VEXAS Syndrome: Clinical Features, Hematologic Involvement, and Clinical Outcomes of Current and Emerging Therapies. [PDF]

Hematol Rep
Assavarittirong C, Grant C, Nayak SS, Nguyen AL.   +3 more
europepmc   +1 more source

Globules rouges et érythropoïèse au cours du VEXAS

VEXAS (Vacuoles, Enzyme E1, X-linked, Auto-Inflammatory, Somatic) is a recently-discovered acquired somatic monogenic disease of the haematopoietic lineage.
Rodrigues, François
core  

Red cells and erythropoiesis in VEXAS syndrome

Le VEXAS (Vacuoles, Enzyme E1, X-linked, Auto-Inflammatory, Somatic) est une maladie monogénique somatique en mosaïque restreinte à la lignée hématopoïétique.
Rodrigues, François
core