Cargando…
Emerging Therapeutic Approaches for Diamond Blackfan Anemia
Diamond Blackfan Anemia (DBA) is an inherited erythroid aplasia with onset in childhood. Patients carry heterozygous mutations in one of 19 Ribosomal Protein (RP) genes, that lead to defective ribosome biogenesis and function. Standard treatments include steroids or blood transfusions but the only d...
Autores principales: | Aspesi, Anna, Borsotti, Chiara, Follenzi, Antonia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bentham Science Publishers
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637096/ https://www.ncbi.nlm.nih.gov/pubmed/30411682 http://dx.doi.org/10.2174/1566523218666181109124538 |
Ejemplares similares
-
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia
por: Aspesi, Anna, et al.
Publicado: (2018) -
Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia
por: Aspesi, Anna, et al.
Publicado: (2014) -
An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia
por: Da Costa, Lydie, et al.
Publicado: (2018) -
Shock in the Setting of Diamond-Blackfan Anemia Relapse
por: Haddaden, Metri, et al.
Publicado: (2021) -
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy
por: Aspesi, Anna, et al.
Publicado: (2017)