Articles with "mecp2 null" as a keyword



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Defective GABAergic neurotransmission in the nucleus tractus solitarius in Mecp2-null mice, a model of Rett syndrome

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Published in 2018 at "Neurobiology of Disease"

DOI: 10.1016/j.nbd.2017.09.006

Abstract: Rett syndrome (RTT) is a devastating neurodevelopmental disorder caused by loss-of-function mutations in the X-linked methyl-CpG binding protein 2 (Mecp2) gene. GABAergic dysfunction has been implicated contributing to the respiratory dysfunction, one major clinical feature… read more here.

Keywords: null mice; nucleus tractus; rett syndrome; mecp2 null ... See more keywords
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Blood–Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome

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Published in 2023 at "Biomolecules"

DOI: 10.3390/biom13040606

Abstract: Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic variants in the X-linked MECP2 gene, encoding an epigenetic factor crucial for… read more here.

Keywords: blood brain; rett syndrome; brain barrier; brain ... See more keywords
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Early Postnatal Treatment with Valproate Induces Gad1 Promoter Remodeling in the Brain and Reduces Apnea Episodes in Mecp2-Null Mice

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Published in 2019 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms20205177

Abstract: The deletion of Mecp2, the gene encoding methyl-CpG-binding protein 2, causes severe breathing defects and developmental anomalies in mammals. In Mecp2-null mice, impaired GABAergic neurotransmission is demonstrated at the early stage of life. GABAergic dysfunction… read more here.

Keywords: null mice; gad1 promoter; mecp2; mecp2 null ... See more keywords