T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent

Schimke immuno-osseous dysplasia (SIOD) caused by mutations in SMARCAL1 is an ultra-rare disease characterized by specific facial features, skeletal dysplasia, and steroid-resistant nephrotic syndrome, which often leads to kidney failure and requires transplantation. Cellular (T-cell) deficiency, ly...

Descripción completa

Detalles Bibliográficos
Autores principales: Marin, Ana V., Jiménez-Reinoso, Anaïs, Mazariegos, Marina S., Román-Ortiz, Elena, Regueiro, José R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623027/
https://www.ncbi.nlm.nih.gov/pubmed/36330520
http://dx.doi.org/10.3389/fimmu.2022.979722

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623027/
https://www.ncbi.nlm.nih.gov/pubmed/36330520
http://dx.doi.org/10.3389/fimmu.2022.979722

Ejemplares similares