Cargando…
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
Major progress has been made over the last decade in identifying novel genes involved in neurodevelopmental disorders, although the task of elucidating their corresponding molecular and pathophysiological mechanisms, which are an essential prerequisite for developing therapies, has fallen far behind...
Autores principales: | Meziane, Hamid, Birling, Marie-Christine, Wendling, Olivia, Leblanc, Sophie, Dubos, Aline, Selloum, Mohammed, Pavlovic, Guillaume, Sorg, Tania, Kalscheuer, Vera M., Billuart, Pierre, Laumonnier, Frédéric, Chelly, Jamel, van Bokhoven, Hans, Herault, Yann |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9775489/ https://www.ncbi.nlm.nih.gov/pubmed/36551904 http://dx.doi.org/10.3390/biomedicines10123148 |
Ejemplares similares
-
A new mouse model of ARX dup24 recapitulates the patients’ behavioral and fine motor alterations
por: Dubos, Aline, et al.
Publicado: (2018) -
Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome
por: Brault, Véronique, et al.
Publicado: (2021) -
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration
por: Dubos, Aline, et al.
Publicado: (2015) -
Efficient and rapid generation of large genomic variants in rats and mice using CRISMERE
por: Birling, Marie-Christine, et al.
Publicado: (2017) -
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome
por: Iacono, Giovanni, et al.
Publicado: (2018)