Published in Hum Gene Ther on June 10, 2002
WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function. Blood (2008) 1.65
Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation. Immunobiology (2009) 1.32
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest (2003) 1.08
The molecular pathology of primary immunodeficiencies. J Mol Diagn (2004) 0.98
Foamy virus vector-mediated gene correction of a mouse model of Wiskott-Aldrich syndrome. Mol Ther (2012) 0.91
Clinical applications of gene therapy for primary immunodeficiencies. Hum Gene Ther (2015) 0.88
Structure-function analysis of the WIP role in T cell receptor-stimulated NFAT activation: evidence that WIP-WASP dissociation is not required and that the WIP NH2 terminus is inhibitory. J Biol Chem (2007) 0.88
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70
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
Actionable diagnosis of neuroleptospirosis by next-generation sequencing. N Engl J Med (2014) 2.71
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
Engraftment potential of human amnion and chorion cells derived from term placenta. Transplantation (2004) 2.18
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood (2012) 1.85
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron (2002) 1.76
How I treat ADA deficiency. Blood (2009) 1.70
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
Gene therapy: X-SCID transgene leukaemogenicity. Nature (2006) 1.57
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Bovine apolipoprotein B-100 is a dominant immunogen in therapeutic cell populations cultured in fetal calf serum in mice and humans. Blood (2007) 1.52
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
Impaired in vitro regulatory T cell function associated with Wiskott-Aldrich syndrome. Clin Immunol (2007) 1.40
Cytokines and their role in lymphoid development, differentiation and homeostasis. Curr Opin Allergy Clin Immunol (2002) 1.40
Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency. J Clin Invest (2017) 1.39
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
The altered landscape of the human skin microbiome in patients with primary immunodeficiencies. Genome Res (2013) 1.35
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
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet (2008) 1.31
American Society of Gene Therapy (ASGT) ad hoc subcommittee on retroviral-mediated gene transfer to hematopoietic stem cells. Mol Ther (2003) 1.29
Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs. Immunol Rev (2005) 1.28
Immune response to fetal calf serum by two adenosine deaminase-deficient patients after T cell gene therapy. Hum Gene Ther (2002) 1.27
B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice. Blood (2012) 1.27
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
Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome. Sci Transl Med (2010) 1.24
Gene therapy fulfilling its promise. N Engl J Med (2009) 1.24
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol (2009) 1.23
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
Autoimmunity in Wiskott-Aldrich syndrome. Curr Opin Rheumatol (2003) 1.20
Efficient methods for targeted mutagenesis in zebrafish using zinc-finger nucleases: data from targeting of nine genes using CompoZr or CoDA ZFNs. PLoS One (2013) 1.19
Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet (2005) 1.19
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Systemic autoimmunity and defective Fas ligand secretion in the absence of the Wiskott-Aldrich syndrome protein. Blood (2010) 1.14
A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors. Blood (2004) 1.12
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis (2011) 1.09
Jak3 and the pathogenesis of severe combined immunodeficiency. Mol Immunol (2004) 1.09
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency. J Allergy Clin Immunol (2011) 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
Revertant somatic mosaicism in the Wiskott-Aldrich syndrome. Immunol Res (2009) 1.05
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
Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome. Blood (2005) 1.04
Evaluating the quality of reporting occupational therapy randomized controlled trials by expanding the CONSORT criteria. Am J Occup Ther (2006) 1.03
Somatic mosaicism in primary immune deficiencies. Curr Opin Allergy Clin Immunol (2008) 1.03
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2013) 1.03
Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci (2002) 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 expression of Wiskott-Aldrich syndrome protein (WASP) is dependent on WASP-interacting protein (WIP). Int Immunol (2007) 0.96
Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. Blood (2006) 0.95
The Drosophila FMRP and LARK RNA-binding proteins function together to regulate eye development and circadian behavior. J Neurosci (2008) 0.95
CXCL12 signaling is independent of Jak2 and Jak3. J Biol Chem (2004) 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
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. Am J Med Genet A (2007) 0.94
Use of Fluorinated Functionality in Enzyme Inhibitor Development: Mechanistic and Analytical Advantages. J Fluor Chem (2008) 0.92
Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration. Hum Mol Genet (2011) 0.92
Lessons from the Wiskott-Aldrich syndrome. N Engl J Med (2006) 0.92
Ecological genetics of vernalization response in Bromus tectorum L. (Poaceae). Ann Bot (2004) 0.91
Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behavior. Hum Mol Genet (2006) 0.91
Foamy virus vector-mediated gene correction of a mouse model of Wiskott-Aldrich syndrome. Mol Ther (2012) 0.91
Self-inactivating retroviral vector-mediated gene transfer induces oncogene activation and immortalization of primary murine bone marrow cells. Mol Ther (2009) 0.91
Creating physical 3D stereolithograph models of brain and skull. PLoS One (2007) 0.91
Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood (2011) 0.90
Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes. Exp Neurol (2006) 0.90
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
Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients. J Clin Invest (2015) 0.88
Structure-function analysis of the WIP role in T cell receptor-stimulated NFAT activation: evidence that WIP-WASP dissociation is not required and that the WIP NH2 terminus is inhibitory. J Biol Chem (2007) 0.88