Cargando…
RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder in which the patients suffer from numerous fractures, skeletal deformities and bluish sclera. The disorder ranges from a mild form to severe and lethal cases. The main objective of this pilot study was to compare the blood transcrip...
Autores principales: | Zhytnik, Lidiia, Maasalu, Katre, Reimann, Ene, Märtson, Aare, Kõks, Sulev |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7684725/ https://www.ncbi.nlm.nih.gov/pubmed/33228694 http://dx.doi.org/10.1186/s12920-020-00825-7 |
Ejemplares similares
-
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients
por: Zhytnik, Lidiia, et al.
Publicado: (2017) -
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
por: Zhytnik, Lidiia, et al.
Publicado: (2019) -
De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta
por: Zhytnik, Lidiia, et al.
Publicado: (2019) -
Inter‐ and Intrafamilial Phenotypic Variability in Individuals with Collagen‐Related Osteogenesis Imperfecta
por: Zhytnik, Lidiia, et al.
Publicado: (2020) -
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta
por: Ho Duy, Binh, et al.
Publicado: (2016)