FMR1: A gene with three faces [PDF]
Biochimica et Biophysica Acta (BBA) - General Subjects, 2009 The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein.
Oostra, Ben, Willemsen, Rob
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Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. [PDF]
PLoS ONE, 2010 Fragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a
Stephen C Collins +9 more
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Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
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Fragile X family members have important and non-overlapping functions
Biomolecular Concepts, 2011 The fragile X family of genes encodes a small family of RNA binding proteins including FMRP, FXR1P and FXR2P that were identified in the 1990s. All three members are encoded by 17 exons and show alternative splicing at the 3′ ends of their respective ...
Winograd Claudia, Ceman Stephanie
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Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers. [PDF]
PLoS ONE, 2014 AimTo assess the role of mRNA accumulation in granulosa cells as the cause of low ovarian response among FMR1 premutation carriers undergoing pre-implantation genetic diagnosis (PGD).DesignCase control study in an academic IVF unit.
Shai E Elizur +7 more
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Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome. [PDF]
, 2012 Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing.
Borodyanskara, Mariya +3 more
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The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo
Neurobiology of Disease, 2006 The FMR1 gene, mutated in Fragile X syndrome patients, has been modeled in mice with a neomycin cassette inserted in exon 5 of the mouse Fmr1 gene creating an Fmr1 knockout (Fmr1 KO) allele.
E.J. Mientjes +9 more
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Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. [PDF]
PLoS Genetics, 2010 Fragile X Tremor Ataxia Syndrome (FXTAS) is a common inherited neurodegenerative disorder caused by expansion of a CGG trinucleotide repeat in the 5'UTR of the fragile X syndrome (FXS) gene, FMR1.
Peter K Todd +7 more
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The Application of Clinical Genetics, 2021 César Payán-Gómez,1 Julian Ramirez-Cheyne,2,3 Wilmar Saldarriaga2,3 1Deparment of Biology, Faculty of Natural Sciences, Universidad del Rosario, Bogotá, Colombia; 2Health Faculty, Universidad del Valle, Cali, Colombia; 3Hospital Universitario del Valle ...
Payán-Gómez C +2 more
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Journal of Neurodevelopmental Disorders, 2017 Background Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with ...
Jessica Klusek +5 more
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