Cargando…
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
BACKGROUND: Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene ATRX. The mechanisms involved in the ATR-X pathology are not completely understood, but may involve epigenetic modifications. ATRX has been linked to the regulation of h...
Autores principales: | Schenkel, Laila C., Kernohan, Kristin D., McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter J., Rodenhiser, David I., Pare, Guillaume, Bérubé, Nathalie G., Skinner, Cindy, Boycott, Kym M., Schwartz, Charles, Sadikovic, Bekim |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345252/ https://www.ncbi.nlm.nih.gov/pubmed/28293299 http://dx.doi.org/10.1186/s13072-017-0118-4 |
Ejemplares similares
-
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
por: Schenkel, Laila C., et al.
Publicado: (2018) -
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy
por: Kernohan, Kristin D., et al.
Publicado: (2016) -
The defining DNA methylation signature of Floating-Harbor Syndrome
por: Hood, Rebecca L., et al.
Publicado: (2016) -
Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues
por: Aref-Eshghi, Erfan, et al.
Publicado: (2018) -
Complexity in Genetic Epilepsies: A Comprehensive Review
por: Rastin, Cassandra, et al.
Publicado: (2023)