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TranscriptomicsGenome-wide analysis identifies aberrant methylation in Fragile X syndrome is specific to the FMR1 locus
Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is caused by an expansion of CGG repeats located in the 5Õ untranslated region (UTR) of the FMR1 gene, leading to hypermethylation and silencing of this locus. While the dramatic increase in DNA methylation (DNAm) of ...
ORGANISM(S): Homo sapiens 
2013-04-15 | E-GEOD-41273 | biostudies-arrayexpress
GenomicsAnalysis of FMR1 splicing in FXS iPSCs
Analysis of FMR1 splicing in FXS iPSCs
PRJNA1314621 | ENA
GenomicsTargeted reactivation of FMR1 transcription in FXS embryonic stem cells
Targeted reactivation of FMR1 transcription in FXS embryonic stem cells
PRJNA438979 | ENA
TranscriptomicsFMR1 targets distinct mRNA sequence elements to regulate protein expression [Affymetrix]
Fragile-X Syndrome (FXS) is a multi-organ disease leading to mental retardation, macro-orchidism in males, and premature ovarian insufficiency in female carriers. FXS is also a prominent monogenic disease associated with autism spectrum disorders (ASD). FXS is typically caused by the loss of FRAGILE...
ORGANISM(S): Homo sapiens 
2012-12-13 | E-GEOD-39504 | biostudies-arrayexpress
TranscriptomicsAnalysis of FMR1 splicing in FXS iPSCs
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by loss of FMRP that, with rare exceptions, results from CGG expansion in the promoter region of FMR1. The trinucleotide expansion has long been thought to induce epigenetic silencing of the FMR1 locus, resulting in complete loss of ex...
ORGANISM(S): Homo sapiens 
2026-05-20 | GSE307114 | GEO
GenomicsRNAseq analysis of CRISPR/Cas9-based perturbation of DNMT1 in FXS induced pluripotent stem cells
RNAseq analysis of CRISPR/Cas9-based perturbation of DNMT1 in FXS induced pluripotent stem cells
PRJNA756037 | ENA
Genomics
Fragile X Syndrome (FXS) Gut Microbiome
PRJNA1429409 | ENA
UnknownAstrocytes mediate cell non-autonomous correction of aberrant firing in human FXS neurons.
Not available
S-EPMC10157295 | biostudies-literature
UnknownmGluR7 allosteric modulator AMN082 corrects protein synthesis and pathological phenotypes in FXS.
Not available
S-EPMC10940663 | biostudies-literature
UnknownFXS causing missense mutations disrupt FMRP granule formation, dynamics, and function.
Not available
S-EPMC8903291 | biostudies-literature
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