Published in Curr Opin Allergy Clin Immunol on December 01, 2003
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
High-Throughput GoMiner, an 'industrial-strength' integrative gene ontology tool for interpretation of multiple-microarray experiments, with application to studies of Common Variable Immune Deficiency (CVID). BMC Bioinformatics (2005) 14.02
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
Atomoxetine increases extracellular levels of norepinephrine and dopamine in prefrontal cortex of rat: a potential mechanism for efficacy in attention deficit/hyperactivity disorder. Neuropsychopharmacology (2002) 3.79
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron (2007) 3.30
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 2.52
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A (2013) 2.30
Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J Exp Med (2009) 2.08
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
G-CSF down-regulation of CXCR4 expression identified as a mechanism for mobilization of myeloid cells. Blood (2006) 1.76
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron (2002) 1.76
Successful determination of lower inflection point and maximal compliance in a population of patients with acute respiratory distress syndrome. Crit Care Med (2002) 1.60
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med (2011) 1.47
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood (2004) 1.46
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet (2004) 1.39
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. Hum Mol Genet (2006) 1.38
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A (2007) 1.35
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet (2005) 1.32
Fragile X-related proteins regulate mammalian circadian behavioral rhythms. Am J Hum Genet (2008) 1.32
Pharmacologic characterization of the cloned human trace amine-associated receptor1 (TAAR1) and evidence for species differences with the rat TAAR1. J Pharmacol Exp Ther (2006) 1.26
Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res (2002) 1.26
Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol (2009) 1.24
Bmal1 and β-cell clock are required for adaptation to circadian disruption, and their loss of function leads to oxidative stress-induced β-cell failure in mice. Mol Cell Biol (2013) 1.22
Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene. Behav Neurosci (2008) 1.21
Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet (2005) 1.19
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol (2012) 1.17
Impaired recruitment of Grk6 and beta-Arrestin 2 causes delayed internalization and desensitization of a WHIM syndrome-associated CXCR4 mutant receptor. PLoS One (2009) 1.17
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr (2009) 1.15
Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol (2011) 1.13
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis (2011) 1.09
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest (2003) 1.08
Agreement between Occupational Therapy Practice Framework classifications and occupational therapists' classifications. Am J Occup Ther (2007) 1.07
Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells. J Exp Med (2011) 1.06
R-fluoxetine increases extracellular DA, NE, as well as 5-HT in rat prefrontal cortex and hypothalamus: an in vivo microdialysis and receptor binding study. Neuropsychopharmacology (2002) 1.05
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2013) 1.03
Evaluating the quality of reporting occupational therapy randomized controlled trials by expanding the CONSORT criteria. Am J Occup Ther (2006) 1.03
Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci (2002) 1.02
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. Am J Med Genet A (2007) 1.02
WHIM syndrome: a defect in CXCR4 signaling. Curr Allergy Asthma Rep (2005) 1.02
Desmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle. Circ Res (2011) 1.00
Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet (2007) 0.99
AKAP350 interaction with cdc42 interacting protein 4 at the Golgi apparatus. Mol Biol Cell (2004) 0.99
Comparison of effects of dual transporter inhibitors on monoamine transporters and extracellular levels in rats. Neuropharmacology (2003) 0.98
Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene. Behav Neurosci (2008) 0.97
FXR1P but not FMRP regulates the levels of mammalian brain-specific microRNA-9 and microRNA-124. J Neurosci (2011) 0.97
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood (2002) 0.96
The Drosophila FMRP and LARK RNA-binding proteins function together to regulate eye development and circadian behavior. J Neurosci (2008) 0.95
Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics (2002) 0.94
Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family. Blood (2004) 0.94
Phase 1 trial of IL-15 trans presentation blockade using humanized Mikβ1 mAb in patients with T-cell large granular lymphocytic leukemia. Blood (2012) 0.93
Development of the hand motion recognition system based on surface EMG using suitable measurement channels for pattern recognition. Conf Proc IEEE Eng Med Biol Soc (2007) 0.92
Use of Fluorinated Functionality in Enzyme Inhibitor Development: Mechanistic and Analytical Advantages. J Fluor Chem (2008) 0.92
Examining the role of the HIV-1 reverse transcriptase p51 subunit in positioning and hydrolysis of RNA/DNA hybrids. J Biol Chem (2013) 0.92
Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration. Hum Mol Genet (2011) 0.92
Ecological genetics of vernalization response in Bromus tectorum L. (Poaceae). Ann Bot (2004) 0.91
Creating physical 3D stereolithograph models of brain and skull. PLoS One (2007) 0.91
Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior. Hum Mol Genet (2006) 0.91
Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes. Exp Neurol (2006) 0.90
Eponym: Barth syndrome. Eur J Pediatr (2011) 0.89
Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons. Neurobiol Dis (2009) 0.89
Complex SNP-based haplotypes in three human helicases: implications for cancer association studies. Genome Res (2002) 0.89
Anti-melanoma differentiation-associated gene 5 antibody is a diagnostic and predictive marker for interstitial lung diseases associated with juvenile dermatomyositis. J Pediatr (2011) 0.88
Osteopenia in X-linked hyper-IgM syndrome reveals a regulatory role for CD40 ligand in osteoclastogenesis. Proc Natl Acad Sci U S A (2007) 0.87
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium. Eur J Pediatr (2011) 0.87
Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3. Clin Immunol (2011) 0.87
In vitro and in vivo evidence for a lack of interaction with dopamine D2 receptors by the metabotropic glutamate 2/3 receptor agonists 1S,2S,5R,6S-2-aminobicyclo[3.1.0]hexane-2,6-bicaroxylate monohydrate (LY354740) and (-)-2-oxa-4-aminobicyclo[3.1.0] Hexane-4,6-dicarboxylic acid (LY379268). J Pharmacol Exp Ther (2009) 0.86
Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila. Hum Mol Genet (2012) 0.86
Retrovirus-mediated WASP gene transfer corrects Wiskott-Aldrich syndrome T-cell dysfunction. Hum Gene Ther (2002) 0.85
Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28. Genomics (2002) 0.85
An imaging roadmap for biology education: from nanoparticles to whole organisms. CBE Life Sci Educ (2008) 0.84
Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. Blood (2011) 0.84
Effect of an occupational intervention on printing in children with economic disadvantages. Am J Occup Ther (2003) 0.84
Molecular cloning and pharmacological characterization of the guinea pig 5-HT1E receptor. Eur J Pharmacol (2004) 0.84
[3H]LY334370, a novel radioligand for the 5-HT1F receptor. II. Autoradiographic localization in rat, guinea pig, monkey and human brain. Naunyn Schmiedebergs Arch Pharmacol (2005) 0.83
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. Eur J Pediatr (2015) 0.83
Substituted furo[3,2-b]pyridines: novel bioisosteres of 5-HT 1F receptor agonists. Bioorg Med Chem Lett (2004) 0.82
Lu AE58054, a 5-HT6 antagonist, reverses cognitive impairment induced by subchronic phencyclidine in a novel object recognition test in rats. Int J Neuropsychopharmacol (2010) 0.82
Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes. J Hum Genet (2011) 0.82
Preclinical pharmacology of FMPD [6-fluoro-10-[3-(2-methoxyethyl)-4-methyl-piperazin-1-yl]-2-methyl-4H-3-thia-4,9-diaza-benzo[f]azulene]: a potential novel antipsychotic with lower histamine H1 receptor affinity than olanzapine. J Pharmacol Exp Ther (2005) 0.82
B lymphocytes from individuals with common variable immunodeficiency respond to B lymphocyte stimulator (BLyS protein) in vitro. Clin Immunol (2003) 0.82
Radiation therapy for the management of patients with HTLV-1-associated adult T-cell leukemia/lymphoma. Blood (2012) 0.81
Efficacy and safety of IgPro20, a subcutaneous immunoglobulin, in Japanese patients with primary immunodeficiency diseases. J Clin Immunol (2014) 0.81
Homeostatic responses fail to correct defective amygdala inhibitory circuit maturation in fragile X syndrome. J Neurosci (2013) 0.81
An integrated and sensitive detection platform for biosensing application based on Fe@Au magnetic nanoparticles as bead array carries. Biosens Bioelectron (2010) 0.80
Patients' perspectives on the self-identified goals assessment. Am J Occup Ther (2002) 0.80
Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning. J Clin Immunol (2015) 0.80
A new dehydrogenase from Clostridium acetobutylicum for asymmetric synthesis: dynamic reductive kinetic resolution entry into the Taxotère side chain. Chem Commun (Camb) (2010) 0.80