Cargando…
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability
PURPOSE: Autism spectrum disorders are associated with defects in social response and communication that often occur in the context of intellectual disability. Rett syndrome is one example in which epilepsy, motor impairment, and motor disturbance may co-occur. Mutations in histone demethylases are...
Autores principales: | Sáez, Mauricio A., Fernández-Rodríguez, Juana, Moutinho, Catia, Sanchez-Mut, Jose V., Gomez, Antonio, Vidal, Enrique, Petazzi, Paolo, Szczesna, Karolina, Lopez-Serra, Paula, Lucariello, Mario, Lorden, Patricia, Delgado-Morales, Raul, de la Caridad, Olga J., Huertas, Dori, Gelpí, Josep L., Orozco, Modesto, López-Doriga, Adriana, Milà, Montserrat, Perez-Jurado, Luís A., Pineda, Mercedes, Armstrong, Judith, Lázaro, Conxi, Esteller, Manel |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823641/ https://www.ncbi.nlm.nih.gov/pubmed/26181491 http://dx.doi.org/10.1038/gim.2015.100 |
Ejemplares similares
-
Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model
por: Petazzi, Paolo, et al.
Publicado: (2013) -
Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor
por: Szczesna, Karolina, et al.
Publicado: (2014) -
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
por: Lucariello, Mario, et al.
Publicado: (2016) -
Circadian Cycle-Dependent MeCP2 and Brain Chromatin Changes
por: Martínez de Paz, Alexia, et al.
Publicado: (2015) -
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects
por: Petazzi, Paolo, et al.
Publicado: (2023)