Published in Front Genet on July 17, 2014
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. Hum Mol Genet (2015) 0.92
Fragile X spectrum disorders. Intractable Rare Dis Res (2014) 0.91
Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome. PLoS One (2016) 0.82
Effects on murine behavior and lifespan of selectively decreasing expression of mutant huntingtin allele by supt4h knockdown. PLoS Genet (2015) 0.80
Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders. Genes (Basel) (2016) 0.75
Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome. Genes (Basel) (2016) 0.75
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length. Am J Med Genet A (2017) 0.75
Regulation of heterochromatic silencing and histone H3 lysine-9 methylation by RNAi. Science (2002) 17.04
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell (1991) 17.00
The Polycomb group protein EZH2 directly controls DNA methylation. Nature (2005) 13.67
Role of histone H3 lysine 9 methylation in epigenetic control of heterochromatin assembly. Science (2001) 13.55
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell (1991) 12.27
The mGluR theory of fragile X mental retardation. Trends Neurosci (2004) 8.88
Absence of expression of the FMR-1 gene in fragile X syndrome. Cell (1991) 7.04
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet (2000) 6.73
Dynamic reprogramming of DNA methylation in the early mouse embryo. Dev Biol (2002) 5.86
Expandable DNA repeats and human disease. Nature (2007) 5.50
Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet (2005) 5.37
G9a-mediated irreversible epigenetic inactivation of Oct-3/4 during early embryogenesis. Nat Cell Biol (2006) 5.16
Argonaute-1 directs siRNA-mediated transcriptional gene silencing in human cells. Nat Struct Mol Biol (2006) 4.93
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 4.88
Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci U S A (1997) 4.73
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med (1991) 4.61
Short RNAs are transcribed from repressed polycomb target genes and interact with polycomb repressive complex-2. Mol Cell (2010) 4.36
DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet (1992) 4.22
The FMR1 premutation and reproduction. Fertil Steril (2006) 3.85
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet (2001) 3.82
C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature (2014) 3.59
A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet (1993) 3.58
Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb Cortex (2000) 3.43
De novo DNA methylation promoted by G9a prevents reprogramming of embryonically silenced genes. Nat Struct Mol Biol (2008) 3.33
Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet (1994) 3.22
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron (2007) 3.17
G9a/GLP complexes independently mediate H3K9 and DNA methylation to silence transcription. EMBO J (2008) 3.08
OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature (2007) 3.03
Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod (2004) 3.01
Protein composition of the intranuclear inclusions of FXTAS. Brain (2005) 2.95
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron (2013) 2.94
Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol (2004) 2.90
Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell (2007) 2.87
GC-rich sequence elements recruit PRC2 in mammalian ES cells. PLoS Genet (2010) 2.86
DNA methylation in ES cells requires the lysine methyltransferase G9a but not its catalytic activity. EMBO J (2008) 2.81
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet (1999) 2.77
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr (2006) 2.73
The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure. Proc Natl Acad Sci U S A (1994) 2.72
(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat Struct Mol Biol (2005) 2.71
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nat Genet (1999) 2.59
Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell (1993) 2.52
Premature ovarian failure in the fragile X syndrome. Am J Med Genet (2000) 2.51
Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol Genet (2002) 2.48
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet (1993) 2.47
Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet (2000) 2.46
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43
X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr (1980) 2.41
Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J Autism Dev Disord (2007) 2.28
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet (2007) 2.25
FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet (1999) 2.23
Trinucleotide expansion in haploid germ cells by gap repair. Nat Genet (2001) 2.21
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet (2009) 2.16
A transcription factor-based mechanism for mouse heterochromatin formation. Nat Struct Mol Biol (2012) 2.15
CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro. Nucleic Acids Res (1995) 2.13
X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28. Hum Genet (1979) 2.12
R-loop stabilization represses antisense transcription at the Arabidopsis FLC locus. Science (2013) 2.11
Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications. Proc Natl Acad Sci U S A (1995) 2.10
Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome. J Physiol (2008) 2.08
Phenotypic variation and FMRP levels in fragile X. Ment Retard Dev Disabil Res Rev (2004) 2.07
The Prader-Willi phenotype of fragile X syndrome. J Dev Behav Pediatr (2007) 2.02
Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene (2007) 2.01
CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J (2003) 1.96
R loops are linked to histone H3 S10 phosphorylation and chromatin condensation. Mol Cell (2013) 1.95
The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet (1986) 1.90
Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA (2007) 1.87
Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet (2000) 1.85
Inhibition of FEN-1 processing by DNA secondary structure at trinucleotide repeats. Mol Cell (1999) 1.83
R-loop-mediated genomic instability is caused by impairment of replication fork progression. Genes Dev (2011) 1.82
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology (2007) 1.80
Human chromosome fragility. Biochim Biophys Acta (2007) 1.77
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci (2006) 1.75
Characterization of the full fragile X syndrome mutation in fetal gametes. Nat Genet (1997) 1.74
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet (1992) 1.70
High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet (1994) 1.68
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet (2005) 1.67
Epilepsy in fragile X syndrome. Dev Med Child Neurol (2002) 1.66
Testing for fragile X gene mutations throughout the life span. JAMA (2008) 1.65
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod (2005) 1.64
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem (2008) 1.59
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep (2013) 1.56
Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet (2006) 1.55
Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science (2014) 1.54
Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet (2006) 1.53
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. Hum Mol Genet (1999) 1.53
Familial transmission of the FMR1 CGG repeat. Am J Hum Genet (1996) 1.53
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet (1992) 1.49
X-linked mental retardation with macro-orchidism and marker X chromosomes. Hum Genet (1979) 1.48
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol (2005) 1.48
Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss. Am J Med Genet A (2009) 1.48
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem (2006) 1.48
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet (1993) 1.47
Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility. Nat Struct Mol Biol (2009) 1.47
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine. Nucleic Acids Res (2002) 1.47
R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. PLoS Genet (2014) 1.46
Amygdala dysfunction in men with the fragile X premutation. Brain (2006) 1.46
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases. Genome Res (2008) 1.46
Molecular dissection of the events leading to inactivation of the FMR1 gene. Hum Mol Genet (2004) 1.46
Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum Mol Genet (2004) 1.44