Published in BMC Med Genet on January 29, 2013
Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science (2014) 1.54
Translation: screening for novel therapeutics with disease-relevant cell types derived from human stem cell models. Biol Psychiatry (2013) 0.95
Clinical and molecular implications of mosaicism in FMR1 full mutations. Front Genet (2014) 0.89
Epigenetics, autism spectrum, and neurodevelopmental disorders. Neurotherapeutics (2013) 0.89
Molecular mechanisms regulating the defects in fragile X syndrome neurons derived from human pluripotent stem cells. Stem Cell Reports (2014) 0.85
Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome. PLoS One (2016) 0.82
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders. Front Genet (2014) 0.82
Epigenetic mechanisms underlying the pathogenesis of neurogenetic diseases. Neurotherapeutics (2014) 0.80
A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR. Proc Natl Acad Sci U S A (2015) 0.79
Molecular Mechanisms Regulating Impaired Neurogenesis of Fragile X Syndrome Human Embryonic Stem Cells. Stem Cells Dev (2015) 0.78
Comparing ESC and iPSC-Based Models for Human Genetic Disorders. J Clin Med (2014) 0.78
Association of aberrant DNA methylation in Apc(min/+) mice with the epithelial-mesenchymal transition and Wnt/β-catenin pathways: genome-wide analysis using MeDIP-seq. Cell Biosci (2015) 0.77
Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells. World J Stem Cells (2015) 0.77
Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels. J Neurodev Disord (2013) 0.77
Chromatin deregulation in disease. Chromosoma (2015) 0.76
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells. Epigenetics Chromatin (2016) 0.76
Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders. Neural Plast (2016) 0.75
Epigenetic regulation and chromatin remodeling in learning and memory. Exp Mol Med (2017) 0.75
Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors. J Pediatr Genet (2016) 0.75
Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells. Genes (Basel) (2016) 0.75
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
Hotspots of aberrant epigenomic reprogramming in human induced pluripotent stem cells. Nature (2011) 13.94
RNAi-mediated targeting of heterochromatin by the RITS complex. Science (2004) 8.73
Gene body-specific methylation on the active X chromosome. Science (2007) 6.33
Age-dependent DNA methylation of genes that are suppressed in stem cells is a hallmark of cancer. Genome Res (2010) 6.03
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell (1991) 3.98
A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet (1993) 3.58
Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell (2010) 3.08
Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell (2007) 2.87
DNA methylation pattern changes upon long-term culture and aging of human mesenchymal stromal cells. Aging Cell (2009) 2.84
RNA and microRNAs in fragile X mental retardation. Nat Cell Biol (2004) 2.63
Age-associated DNA methylation in pediatric populations. Genome Res (2012) 2.53
Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray. Genomics (2011) 2.19
Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet (1993) 1.95
Specific age-associated DNA methylation changes in human dermal fibroblasts. PLoS One (2011) 1.51
The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer. Nucleic Acids Res (2003) 1.35
Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nat Genet (1995) 1.32
New perspectives on the biology of fragile X syndrome. Curr Opin Genet Dev (2012) 1.23
Timing of the absence of FMR1 expression in full mutation chorionic villi. Hum Genet (2002) 1.21
Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. Am J Med Genet A (2008) 1.21
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (2007) 43.16
Receptor interacting protein kinase-3 determines cellular necrotic response to TNF-alpha. Cell (2009) 11.36
The mGluR theory of fragile X mental retardation. Trends Neurosci (2004) 8.88
Social networkers' attitudes toward direct-to-consumer personal genome testing. Am J Bioeth (2009) 8.28
The carbon balance of terrestrial ecosystems in China. Nature (2009) 6.84
Advances in methods and algorithms in a modern quantum chemistry program package. Phys Chem Chem Phys (2006) 6.51
Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci U S A (2002) 6.45
Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron (2008) 6.26
Vitamin C enhances the generation of mouse and human induced pluripotent stem cells. Cell Stem Cell (2009) 5.49
Broad and potent neutralization of HIV-1 by a gp41-specific human antibody. Nature (2012) 5.44
Aging, progenitor cell exhaustion, and atherosclerosis. Circulation (2003) 5.19
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
Donor selection for natural killer cell receptor genes leads to superior survival after unrelated transplantation for acute myelogenous leukemia. Blood (2010) 4.46
Nampt/PBEF/Visfatin regulates insulin secretion in beta cells as a systemic NAD biosynthetic enzyme. Cell Metab (2007) 4.16
Epigenomic analysis of multilineage differentiation of human embryonic stem cells. Cell (2013) 3.81
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A (2005) 3.64
Hdac2 regulates the cardiac hypertrophic response by modulating Gsk3 beta activity. Nat Med (2007) 3.61
Mobile interspersed repeats are major structural variants in the human genome. Cell (2010) 3.60
A decade of molecular studies of fragile X syndrome. Annu Rev Neurosci (2002) 3.54
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
Genomic analyses identify distinct patterns of selection in domesticated pigs and Tibetan wild boars. Nat Genet (2013) 3.41
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet (2012) 3.34
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
Modeling quantitative trait Loci and interpretation of models. Genetics (2005) 3.15
Advances in the treatment of fragile X syndrome. Pediatrics (2009) 3.10
Transcription factor KLF2 regulates the migration of naive T cells by restricting chemokine receptor expression patterns. Nat Immunol (2008) 3.05
Therapeutic suppression of translation initiation factor eIF4E expression reduces tumor growth without toxicity. J Clin Invest (2007) 3.01
A small molecule HIV-1 inhibitor that targets the HIV-1 envelope and inhibits CD4 receptor binding. Proc Natl Acad Sci U S A (2003) 2.92
The pathophysiology of fragile x syndrome. Annu Rev Genomics Hum Genet (2007) 2.85
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron (2003) 2.81
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
Fiber formation across the bacterial outer membrane by the chaperone/usher pathway. Cell (2008) 2.69
Influence of peritoneal transport rate, inflammation, and fluid removal on nutritional status and clinical outcome in prevalent peritoneal dialysis patients. Perit Dial Int (2003) 2.69
Phosphorylation influences the translation state of FMRP-associated polyribosomes. Hum Mol Genet (2003) 2.66
RNA and microRNAs in fragile X mental retardation. Nat Cell Biol (2004) 2.63
Cell wall stress responses in Bacillus subtilis: the regulatory network of the bacitracin stimulon. Mol Microbiol (2003) 2.62
Global analysis of the Bacillus subtilis Fur regulon and the iron starvation stimulon. Mol Microbiol (2002) 2.55
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet (2007) 2.55
A prospective, randomized study comparing outcomes and toxicities of intensity-modulated radiotherapy vs. conventional two-dimensional radiotherapy for the treatment of nasopharyngeal carcinoma. Radiother Oncol (2012) 2.54
Age-associated DNA methylation in pediatric populations. Genome Res (2012) 2.53
Targeting Wnt-driven cancer through the inhibition of Porcupine by LGK974. Proc Natl Acad Sci U S A (2013) 2.49
H3K9 methylation is a barrier during somatic cell reprogramming into iPSCs. Nat Genet (2012) 2.47
Complete protection of neonatal rhesus macaques against oral exposure to pathogenic simian-human immunodeficiency virus by human anti-HIV monoclonal antibodies. J Infect Dis (2004) 2.47
Cytidine deaminases APOBEC3G and APOBEC3F interact with human immunodeficiency virus type 1 integrase and inhibit proviral DNA formation. J Virol (2007) 2.47
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet (2011) 2.46
Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes. Diabetes (2004) 2.43
Molecular mechanisms of fragile X syndrome: a twenty-year perspective. Annu Rev Pathol (2011) 2.39
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques. Nat Biotechnol (2011) 2.37
The graft-versus-leukemia effect using matched unrelated donors is not superior to HLA-identical siblings for hematopoietic stem cell transplantation. Blood (2008) 2.35
The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development. Proc Natl Acad Sci U S A (2004) 2.34
Antibiotics that inhibit cell wall biosynthesis induce expression of the Bacillus subtilis sigma(W) and sigma(M) regulons. Mol Microbiol (2002) 2.32
Reversible inhibition of PSD-95 mRNA translation by miR-125a, FMRP phosphorylation, and mGluR signaling. Mol Cell (2011) 2.27
Replication stress induces tumor-like microdeletions in FHIT/FRA3B. Proc Natl Acad Sci U S A (2007) 2.27
Gene expression phenotypes of atherosclerosis. Arterioscler Thromb Vasc Biol (2004) 2.23
Ascaris suum draft genome. Nature (2011) 2.16
Differential requirement for conserved tryptophans in human immunodeficiency virus type 1 Vif for the selective suppression of APOBEC3G and APOBEC3F. J Virol (2006) 2.16
Evaluation of terrestrial carbon cycle models for their response to climate variability and to CO2 trends. Glob Chang Biol (2013) 2.13
A Drosophila model for LRRK2-linked parkinsonism. Proc Natl Acad Sci U S A (2008) 2.12
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12
Immune-related microRNAs are abundant in breast milk exosomes. Int J Biol Sci (2011) 2.11
Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. Proc Natl Acad Sci U S A (2007) 2.10
Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genet Med (2011) 2.08
Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. Am J Hum Genet (2009) 2.07
Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol (2008) 2.04
c-Myc-mediated epigenetic silencing of MicroRNA-101 contributes to dysregulation of multiple pathways in hepatocellular carcinoma. Hepatology (2014) 2.04
Exploring the engine of anthropogenic iron cycles. Proc Natl Acad Sci U S A (2006) 2.03
Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns. Diabetes (2006) 2.03
FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A. J Neurosci (2007) 2.02
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model. Proc Natl Acad Sci U S A (2008) 2.02
Early millet use in northern China. Proc Natl Acad Sci U S A (2012) 2.01
Foxf1 and Foxf2 control murine gut development by limiting mesenchymal Wnt signaling and promoting extracellular matrix production. Development (2006) 2.01
Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes. Diabetes (2008) 2.01
Metabolic syndrome is associated with better nutritional status, but not with cardiovascular disease or all-cause mortality in patients on haemodialysis. Arch Cardiovasc Dis (2012) 1.99
Abdominal Paracentesis Drainage Does Not Increase Infection in Severe Acute Pancreatitis: A Prospective Study. J Clin Gastroenterol (2015) 1.97
Esrrb activates Oct4 transcription and sustains self-renewal and pluripotency in embryonic stem cells. J Biol Chem (2008) 1.95
PMRD: plant microRNA database. Nucleic Acids Res (2009) 1.94
MicroRNA let-7a inhibits proliferation of human prostate cancer cells in vitro and in vivo by targeting E2F2 and CCND2. PLoS One (2010) 1.94
Hantavirus-like particles generated in CHO cells induce specific immune responses in C57BL/6 mice. Vaccine (2010) 1.92
Histone-deacetylase inhibition reverses atrial arrhythmia inducibility and fibrosis in cardiac hypertrophy independent of angiotensin. J Mol Cell Cardiol (2008) 1.90
Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome. J Neurosci (2010) 1.89
S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade. J Biol Chem (2008) 1.87
Evaluation of HLA matching in unrelated hematopoietic stem cell transplantation for nonmalignant disorders. Blood (2012) 1.86
Assembly of HIV-1 Vif-Cul5 E3 ubiquitin ligase through a novel zinc-binding domain-stabilized hydrophobic interface in Vif. Virology (2006) 1.86
Childhood maltreatment is associated with distinct genomic and epigenetic profiles in posttraumatic stress disorder. Proc Natl Acad Sci U S A (2013) 1.86
Sumoylation of heterogeneous nuclear ribonucleoproteins, zinc finger proteins, and nuclear pore complex proteins: a proteomic analysis. Proc Natl Acad Sci U S A (2004) 1.85
Amino acid substitution at peptide-binding pockets of HLA class I molecules increases risk of severe acute GVHD and mortality. Blood (2013) 1.84
Loss of Rho GDIα and resistance to tamoxifen via effects on estrogen receptor α. J Natl Cancer Inst (2011) 1.84
Differential immune system DNA methylation and cytokine regulation in post-traumatic stress disorder. Am J Med Genet B Neuropsychiatr Genet (2011) 1.83
Local RNA translation at the synapse and in disease. J Neurosci (2011) 1.83
Proliferative genes dominate malignancy-risk gene signature in histologically-normal breast tissue. Breast Cancer Res Treat (2009) 1.83
Ethnic differences in out-of-hospital fatal pulmonary embolism. Circulation (2011) 1.82
Multicenter phase II study of neoadjuvant lapatinib and trastuzumab with hormonal therapy and without chemotherapy in patients with human epidermal growth factor receptor 2-overexpressing breast cancer: TBCRC 006. J Clin Oncol (2013) 1.81
Fragile X syndrome. Eur J Hum Genet (2008) 1.81
Endothelial deletion of hypoxia-inducible factor-2alpha (HIF-2alpha) alters vascular function and tumor angiogenesis. Blood (2009) 1.81
Selective dysregulation of the FcgammaIIB receptor on memory B cells in SLE. J Exp Med (2006) 1.81
Novel C-17-heteroaryl steroidal CYP17 inhibitors/antiandrogens: synthesis, in vitro biological activity, pharmacokinetics, and antitumor activity in the LAPC4 human prostate cancer xenograft model. J Med Chem (2005) 1.80