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
Fragile X Syndrome (FXS) is a neurological disorder caused by epigenetic silencing of the FMR1 gene. Reactivation of FMR1 is a potential therapeutic approach for FXS that would correct the root cause of the disease.
Minggang Fang+9 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
Conservation of CGG region in FMR1 gene in mammals [PDF]
Wout H. Deelen+3 more
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Normal phenotype in two brothers with a full FMR1 mutation [PDF]
H. J. M. Smeets+8 more
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Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice [PDF]
Martin Hergersberg+6 more
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Learning curve assessment of rule use provides evidence for spared implicit sequence learning in a mouse model of mental retardation [PDF]
Humans with Fragile X Syndrome (FXS) have a mental retardation of which a notable characteristic is a weakness in recalling sequences of information. A mouse model of the disorder exists which exhibits behavioral and neurologic changes, but cognitive ...
Bauchwitz, Dr. Robert
core
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
X inactivation of the FMR1 fragile X mental retardation gene. [PDF]
C U Kirchgessner+2 more
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