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63 results for “Fmr1”
FMR1 Iso-Seq intermediate files: FLNC and nFL reads
<p>Over 40% of males and ~16% of female carriers of <em>FMR1</em> premutation allele (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. On the other hand, about 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of adult-onset clinical problems (<em>FMR1</em> associated disorders). Marked elevation in <em>FMR1</em> mRNA levels have been observed with premutation alleles resulting in RNA toxicity. This molecular mechanism has been proposed as the leading molecular mechanism to explain the phenotypes observed in premutation carriers.</p> <p>The <em>FMR1</em> gene, as many housekeeping genes, undergoes alternative splicing. Using Single Molecule, Real-Time (SMRT) sequencing and qRT-PCR we have recently reported that the relative abundance of all <em>FMR1</em> mRNA isoforms is significantly increased in the premutation group compared to controls. In this study, we have further investigated the transcriptional <em>FMR1</em> isoforms distribution pattern in different tissues including muscle, brain, heart and testes from 3 individuals with premutation allele and FXTAS and compared them to the isoform profiles of age-matched controls. Here we report on the identification of novel isoforms, some of which are observed only in premutation carriers and might play a role in the pathogenesis of FXTAS.</p> <p>Our findings suggest that the characterization of expression levels of the different <em>FMR1</em> isoforms is fundamental for understanding the regulation of the <em>FMR1</em> gene as well as for elucidating the mechanism(s) by which “toxic gain of function” of the <em>FMR1</em> mRNA may play a role in FXTAS and/or in the other <em>FMR1</em>-associated conditions. In addition to the elevated levels of <em>FMR1</em> isoforms, the altered abundance/ratio of the corresponding FMRP isomers may affect the overall function of FMRP in premutations.</p>
FMR1 Iso-Seq: per sample intermediate files
<p><em>FMR1</em> premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. In addition, 20 % of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of clinical problems affecting premutation carriers throughout their life span. Marked elevation in <em>FMR1</em> mRNA levels have been observed with premutation alleles resulting in RNA toxicity, the leading molecular mechanism proposed for the <em>FMR1</em> associated disorders observed in premutation carriers.</p> <p>The <em>FMR1</em> gene, undergoes alternative splicing and we have recently reported that the relative abundance of all <em>FMR1</em> mRNA isoforms is significantly increased in premutation carriers.</p> <p>In this study, we further investigated the transcriptional <em>FMR1</em> isoforms distribution pattern in different tissues and identified a total of 49 isoforms, some of which observed only in premutation carriers and which might play a role in the pathogenesis of FXTAS.</p> <p>Further, we investigated the distribution pattern and expression levels of the <em>FMR1</em> isoforms in asymptomatic premutation carriers and in those with FXTAS and found no significant difference between the two groups.</p> <p>Our findings suggest that the characterization of the expression levels of the different <em>FMR1</em> isoforms is fundamental for understanding the regulation of the <em>FMR1</em> gene as imbalance in their expression could lead to an altered functional diversity with neurotoxic consequences. Their characterization will also help to elucidating the mechanism(s) by which “toxic gain of function” of the <em>FMR1</em> mRNA may play a role in FXTAS and/or in the other <em>FMR1</em>-associated conditions.</p>
FMR1 Iso-Seq: final files
<p>seng, E., Tang, H.-T., AlOlaby, R. R., Hickey, L. & Tassone, F. Altered expression of the FMR1 splicing variants landscape in premutation carriers. <em>BBA - Gene Regulatory Mechanisms</em> <strong>1860,</strong> 1117–1126 (2017).</p> <p><em>FMR1</em> premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. In addition, 20 % of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of clinical problems affecting premutation carriers throughout their life span. Marked elevation in <em>FMR1</em> mRNA levels have been observed with premutation alleles resulting in RNA toxicity, the leading molecular mechanism proposed for the <em>FMR1</em> associated disorders observed in premutation carriers.</p> <p>The <em>FMR1</em> gene, undergoes alternative splicing and we have recently reported that the relative abundance of all <em>FMR1</em> mRNA isoforms is significantly increased in premutation carriers.</p> <p>In this study, we further investigated the transcriptional <em>FMR1</em> isoforms distribution pattern in different tissues and identified a total of 49 isoforms, some of which observed only in premutation carriers and which might play a role in the pathogenesis of FXTAS.</p> <p>Further, we investigated the distribution pattern and expression levels of the <em>FMR1</em> isoforms in asymptomatic premutation carriers and in those with FXTAS and found no significant difference between the two groups.</p> <p>Our findings suggest that the characterization of the expression levels of the different <em>FMR1</em> isoforms is fundamental for understanding the regulation of the <em>FMR1</em> gene as imbalance in their expression could lead to an altered functional diversity with neurotoxic consequences. Their characterization will also help to elucidating the mechanism(s) by which “toxic gain of function” of the <em>FMR1</em> mRNA may play a role in FXTAS and/or in the other <em>FMR1</em>-associated conditions.</p>
Perirhinal cortex abnormalities impair hippocampal plasticity and learning in Scn2a, Fmr1, and Cdkl5 autism mouse models
Open the record for dataset details and reuse information.
The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry
ClinicalTrials.gov study NCT01187524. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Figure 1 from: Abbey M (2016) Functional characterization of the several splice variants of Fmr1. Research Ideas and Outcomes 2: e10593. https://doi.org/10.3897/rio.2.e10593
Figure 1 - Diagrammatic representation of the exon structure of Fmr1 and its corresponding functional domains. The splice acceptor sites are marked as 1 and 2.
Fragile X Syndrome Patient–Derived Neurons Developing in the Mouse Brain Show FMR1-Dependent Phenotypes
GEO Series GSE202895. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.
TRAP-seq from hippocampus isolated from WT and Fmr1-/y mice bred to Snap25-EGFPL10a mice
GEO Series GSE199328. Mus musculus. 8 samples. Type: Other.
Targeted reactivation of FMR1 transcription in FXS embryonic stem cells
GEO Series GSE112031. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.
RNA sequencing data of Wild Type and Fmr1 KO hippocampal neuron
GEO Series GSE114015. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
TRAP-seq of samples isolated from DHPG-stimulated WT and Fmr1-/y hippocampal slices
GEO Series GSE201239. Mus musculus. 32 samples. Type: Expression profiling by high throughput sequencing.
FMR1 targets distinct mRNA sequence elements to regulate protein expression
GEO Series GSE39686. Homo sapiens. 10 samples. Type: Expression profiling by array; Expression profiling by high throughput sequencing.
Hippocampus CA1 pyramidal cells Transcriptomic profile in WT and Fmr1 KO mice, using Wfs1-CreERT2:RiboTag:Frm1 knockout and wildtype mice
GEO Series GSE94559. Mus musculus. 12 samples. Type: Expression profiling by high throughput sequencing.
Genome-wide analysis identifies aberrant methylation in Fragile X syndrome is specific to the FMR1 locus
GEO Series GSE41273. Homo sapiens. 62 samples. Type: Methylation profiling by genome tiling array.
FMR1 reactivating treatments in Fragile X iPSC-derived neural progenitors in-vitro and in-vivo
GEO Series GSE112145. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
The 3’UTR of FMR1 mRNA is a target of miR101, miR129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse.
GEO Series GSE43670. Mus musculus. 6 samples. Type: Expression profiling by array.
Antisense Oligonucleotide Rescue of CGG Expansion-Dependent FMR1 Mis-Splicing in Fragile X Syndrome Restores FMRP
GEO Series GSE202177. Homo sapiens. 42 samples. Type: Expression profiling by high throughput sequencing.
Rescue of Fragile X syndrome neurons by DNA methylation editing of the FMR1 gene [RNA-seq]
GEO Series GSE108498. Homo sapiens. 7 samples. Type: Expression profiling by high throughput sequencing.
Fragile X Syndrome Patient-Derived Neurons Developing in the Mouse Brain Show FMR1-Dependent Phenotypes
GEO Series GSE202894. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
Regulation of RNA localization by FMR1
GEO Series GSE137878. Homo sapiens; Mus musculus. 70 samples. Type: Expression profiling by high throughput sequencing.
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