Modeling Fragile X Syndrome in Drosophila
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd+5 more
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Conservation of CGG region in FMR1 gene in mammals [PDF]
Wout H. Deelen+3 more
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Negative Effects of Chronic Rapamycin Treatment on Behavior in a Mouse Model of Fragile X Syndrome
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is also highly associated with autism spectrum disorders (ASD). It is caused by expansion of a CGG repeat sequence on the X chromosome resulting in silencing of the FMR1
Rachel M. Saré+7 more
doaj +1 more source
Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice [PDF]
Martin Hergersberg+6 more
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Functional characterization of the several splice variants of Fmr1 [PDF]
Fmr1 has been known to be a crucial contributor in neurodevelopment. Events such as alternative splicing in its coding region and the use of different trancription start and end sites in its non-coding regions result in the production of a range of mRNA transcripts.
openaire +3 more sources
Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure [PDF]
Mark C. Hirst, Philip J. White
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Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley +1 more source
Examination of Factors Associated with Instability of the FMR1 CGG Repeat [PDF]
Allison E. Ashley‐Koch+7 more
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X inactivation of the FMR1 fragile X mental retardation gene. [PDF]
C U Kirchgessner+2 more
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Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population [PDF]
Pietro Chiurazzi+5 more
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