Accès ouvert
2026
article
OpenAlex
Ceren Erdem, Sophie R. Thomson, Noha Gamal Bahey, Jim Selfridge et autres
Background/Objectives: PTEN Hamartoma Tumour Syndrome (PHTS) is a rare inherited disorder caused by germline PTEN mutations, presenting with cancer predisposition and neurodevelopmental abnormalities, including macrocephaly. PTEN functions as a tumour suppressor by regulating the PI3K/AKT/mTOR pathway and contributes to cellular adhesion, migration, …
tr, gb, Égypte
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Accès ouvert
2026
preprint
OpenAlex
Beatriz Maio, Aditi Singh, Ralph Hector, Kamal K.E. Gadalla et autres
Summary Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with auditory hypersensitivity, circuit hyperexcitability, and seizures. Whether re-expression of the FMR1 gene and encoded Fragile X Messenger Ribonucleoprotein (FMRP) can restore sensory circuit dysfunction remains unclear. Here, we show that a …
us
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Accès ouvert
2026
article
OpenAlex
Anna O. Norman, Courtney Scaramella, Dominik K. Biezonski, Ralph D. Hector et autres
isoform 7 ameliorates cortical dysfunction and behavioral deficits in a murine FXS model and suggests that widespread cortical biodistribution is required for therapeutic benefit.
us
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Accès ouvert
2025
preprint
OpenAlex
Kashyap Chhatbar, Sara Giuliani, Timo Quante, Beatrice Alexander-Howden et autres
Abstract Mechanistic understanding of how gene activity is regulated has focussed on the roles of transcription factors at promoters and enhancers, whereas mechanisms capable of globally fine-tuning gene expression through dispersed binding across large genomic regions have received less attention. Here we …
gb, it, fr
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Accès ouvert
2025
preprint
OpenAlex
Stephanie A. Zlatic, Eric B. Dammer, Amanda J. Crocker, Duc M. Duong et autres
Abstract Rett syndrome (RTT) is a neurodevelopmental disorder caused by MECP2 mutations. Like other genetic neurodevelopmental disorders, it lacks protein biomarkers to evaluate disease and therapeutic outcomes. We present a strategy to define putative biomarkers of MeCP2 dysfunction in brain with potential …
us, at, ch
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Accès ouvert
2025
article
OpenAlex
Paul D. Ross, Kamal K.E. Gadalla, Sophie R. Thomson, Jim Selfridge et autres
Conventional methods of gene transfer lead to inconsistent transgene expression within cells. This variability can be problematic, particularly in conditions like Rett syndrome (RTT), a neurological disorder caused by mutations in the MECP2 (methyl-CpG binding protein 2) gene, because overexpression of MECP2 …
gb, us
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Accès ouvert
2022
article
OpenAlex
Katie M Paton, Jim Selfridge, Jacky Guy, Adrian Peter Bird
Cre/Lox technology is a powerful tool in the mouse genetics tool-box as it enables tissue-specific and inducible mutagenesis of specific gene loci. Correct interpretation of phenotypes depends upon knowledge of the Cre expression pattern in the chosen mouse driver line to ensure …
gb
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Katie M Paton, Jim Selfridge, Jacky Guy, Adrian Peter Bird
Cre/Lox technology is a powerful tool in the mouse genetics tool-box as it enables tissue-specific and inducible mutagenesis of specific gene loci. Correct interpretation of phenotypes depends upon knowledge of the Cre expression pattern in the chosen mouse driver line to ensure …
gb
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Katie M Paton, Jim Selfridge, Jacky Guy, Adrian Peter Bird
Cre/Lox technology is a powerful tool in the mouse genetics tool-box as it enables tissue-specific and inducible mutagenesis of specific gene loci. Correct interpretation of phenotypes depends upon knowledge of the Cre expression pattern in the chosen mouse driver line to ensure …
gb
(code pays fourni par la source)
Accès ouvert
2021
article
OpenAlex
Rebekah Tillotson, Justyna Cholewa-Waclaw, Kashyap Chhatbar, John C. Connelly et autres
DNA methylation is implicated in neuronal biology via the protein MeCP2, the mutation of which causes Rett syndrome. MeCP2 recruits the NCOR1/2 co-repressor complexes to methylated cytosine in the CG dinucleotide, but also to sites of non-CG methylation, which are abundant in …
gb
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Accès ouvert
2021
article
OpenAlex
Raphaël Pantier, Kashyap Chhatbar, Timo Quante, Konstantina Skourti-Stathaki et autres
Mammalian genomes contain long domains with distinct average compositions of A/T versus G/C base pairs. In a screen for proteins that might interpret base composition by binding to AT-rich motifs, we identified the stem cell factor SALL4, which contains multiple zinc fingers. …
gb, nl
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Accès ouvert
2020
preprint
OpenAlex
Rebekah Tillotson, Justyna Cholewa-Waclaw, Kashyap Chhatbar, John C. Connelly et autres
SUMMARY DNA methylation is implicated in neuronal biology via the protein MeCP2, mutation of which causes Rett syndrome. MeCP2 recruits the NCOR1/2 corepressor complexes to methylated cytosine in the CG dinucleotide, but also to non-CG methylation, which is abundant specifically in neuronal …
gb
(code pays fourni par la source)