Published in Arthritis Rheum on May 01, 2010
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development. Cell (2012) 2.62
Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol (2010) 2.18
Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes. Nat Immunol (2012) 1.83
Aicardi-Goutières syndrome and the type I interferonopathies. Nat Rev Immunol (2015) 1.82
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun (2011) 1.70
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat (2010) 1.43
Aicardi-Goutières syndrome is caused by IFIH1 mutations. Am J Hum Genet (2014) 1.41
Recent insights into the genetic basis of systemic lupus erythematosus. Ann Rheum Dis (2012) 1.35
PCNA directs type 2 RNase H activity on DNA replication and repair substrates. Nucleic Acids Res (2011) 1.35
Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response. Cell Rep (2013) 1.28
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest (2014) 1.25
SAMHD1 prevents autoimmunity by maintaining genome stability. Ann Rheum Dis (2014) 1.20
Type I interferon and systemic lupus erythematosus. J Interferon Cytokine Res (2011) 1.18
The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease. J Biol Chem (2010) 1.17
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. J Biol Chem (2011) 1.15
Aicardi-Goutières syndrome: a model disease for systemic autoimmunity. Clin Exp Immunol (2014) 1.10
Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling. Annu Rev Immunol (2015) 1.08
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects. J Biol Chem (2010) 1.04
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. J Biol Chem (2011) 1.01
Gene-function studies in systemic lupus erythematosus. Nat Rev Rheumatol (2013) 0.96
How the misincorporation of ribonucleotides into genomic DNA can be both harmful and helpful to cells. Nucleic Acids Res (2014) 0.95
Human disease phenotypes associated with mutations in TREX1. J Clin Immunol (2015) 0.93
dNTP pool modulation dynamics by SAMHD1 protein in monocyte-derived macrophages. Retrovirology (2014) 0.92
Nucleic acid metabolism and systemic autoimmunity revisited. Arthritis Rheum (2010) 0.92
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. J Biol Chem (2011) 0.92
cAMP responsive element modulator: a critical regulator of cytokine production. Trends Mol Med (2013) 0.89
Immunogenetics of systemic lupus erythematosus: A comprehensive review. J Autoimmun (2015) 0.86
TLRs and interferons: a central paradigm in autoimmunity. Curr Opin Immunol (2013) 0.85
Mouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity. Clin Exp Immunol (2014) 0.84
The TREX1 C-terminal region controls cellular localization through ubiquitination. J Biol Chem (2013) 0.83
Identification of host proteins interacting with the integrin-like A domain of Toxoplasma gondii micronemal protein MIC2 by yeast-two-hybrid screening. Parasit Vectors (2014) 0.82
Deregulated type I IFN response in TREX1-associated familial chilblain lupus. J Invest Dermatol (2013) 0.81
The danger model approach to the pathogenesis of the rheumatic diseases. J Immunol Res (2015) 0.81
Aggressive CD8(+) epidermotropic cutaneous T-cell lymphoma associated with homozygous mutation in SAMHD1. JAAD Case Rep (2015) 0.81
RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA. Nat Commun (2016) 0.80
Type I interferonopathies--an expanding disease spectrum of immunodysregulation. Semin Immunopathol (2015) 0.79
Rare variants in the TREX1 gene and susceptibility to autoimmune diseases. Biomed Res Int (2013) 0.79
The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers. J Biol Chem (2014) 0.77
Synergy between Hematopoietic and Radioresistant Stromal Cells Is Required for Autoimmune Manifestations of DNase II-/-IFNaR-/- Mice. J Immunol (2016) 0.77
[Type I interferonopathies : Systemic inflammatory diseases triggered by type I interferons]. Z Rheumatol (2016) 0.77
Neutrophilic dermatoses and autoinflammatory diseases with skin involvement-innate immune disorders. Semin Immunopathol (2015) 0.75
Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus. J Mol Med (Berl) (2016) 0.75
STING regulates abnormal bone formation induced by deficiency of DNase II. Arthritis Rheumatol (2016) 0.75
Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation. Clin Rheumatol (2017) 0.75
Aicardi-Goutières syndrome with emphasis on sonographic features in infancy. Pediatr Radiol (2012) 0.75
Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory Diseases. Front Immunol (2017) 0.75
[Familial chilblain lupus : Type 1 interferonopathy with model character]. Z Rheumatol (2017) 0.75
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
TLR3 deficiency in patients with herpes simplex encephalitis. Science (2007) 5.86
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet (2007) 4.76
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. Nat Immunol (2010) 4.58
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26
Antiepileptic drugs and apoptotic neurodegeneration in the developing brain. Proc Natl Acad Sci U S A (2002) 4.18
Synaptic NMDA receptor activity boosts intrinsic antioxidant defenses. Nat Neurosci (2008) 4.04
Nonpathogenic SIV infection of African green monkeys induces a strong but rapidly controlled type I IFN response. J Clin Invest (2009) 3.89
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Anesthesia-induced developmental neuroapoptosis. Does it happen in humans? Anesthesiology (2004) 3.22
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
Chikungunya disease in nonhuman primates involves long-term viral persistence in macrophages. J Clin Invest (2010) 2.92
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Outcome of and prognostic factors for herpes simplex encephalitis in adult patients: results of a multicenter study. Clin Infect Dis (2002) 2.71
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum (2013) 2.60
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity (2010) 2.47
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47
Sedative and anticonvulsant drugs suppress postnatal neurogenesis. Ann Neurol (2008) 2.46
Antigen crosspresentation by human plasmacytoid dendritic cells. Immunity (2007) 2.42
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
Autoantibodies to GP2, the major zymogen granule membrane glycoprotein, are new markers in Crohn's disease. Clin Chim Acta (2010) 2.31
Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity (2005) 2.16
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Antiepileptic drugs and apoptosis in the developing brain. Ann N Y Acad Sci (2003) 2.01
Primary infection with simian immunodeficiency virus: plasmacytoid dendritic cell homing to lymph nodes, type I interferon, and immune suppression. Blood (2008) 1.99
Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol (2014) 1.95
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Clinical, environmental, and genetic determinants of multiple sclerosis in children with acute demyelination: a prospective national cohort study. Lancet Neurol (2011) 1.92
Ethanol-induced apoptotic neurodegeneration in the developing C57BL/6 mouse brain. Brain Res Dev Brain Res (2002) 1.89
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest (2011) 1.88
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med (Berl) (2007) 1.88
Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study. Lancet Neurol (2007) 1.88
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat (2009) 1.85
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet (2011) 1.84
Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes. Nat Immunol (2012) 1.83
Oocyte karyotyping by comparative genomic hybridization [correction of hybrydization] provides a highly reliable method for selecting "competent" embryos, markedly improving in vitro fertilization outcome: a multiphase study. Fertil Steril (2007) 1.77
Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. J Exp Med (2011) 1.71
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Xenon reduces neurohistopathological damage and improves the early neurological deficit after cardiac arrest in pigs. Crit Care Med (2008) 1.70
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet A (2010) 1.68
Do pediatric drugs cause developing neurons to commit suicide? Trends Pharmacol Sci (2004) 1.67
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet (2011) 1.65
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Plasmacytoid dendritic cell dynamics and alpha interferon production during Simian immunodeficiency virus infection with a nonpathogenic outcome. J Virol (2008) 1.62
Phenotype and function of natural killer cells in systemic lupus erythematosus: excess interferon-γ production in patients with active disease. Arthritis Rheum (2011) 1.59
Coronavirus 229E-related pneumonia in immunocompromised patients. Clin Infect Dis (2003) 1.58
Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol (2009) 1.57
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. Am J Med Genet A (2005) 1.55
Cohen syndrome diagnosis using whole genome arrays. J Med Genet (2010) 1.55
Type I interferon production is profoundly and transiently impaired in primary HIV-1 infection. J Infect Dis (2005) 1.54
Sulthiame but not levetiracetam exerts neurotoxic effect in the developing rat brain. Exp Neurol (2005) 1.51
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet (2011) 1.50
Serologic assay based on gliadin-related nonapeptides as a highly sensitive and specific diagnostic aid in celiac disease. Clin Chem (2004) 1.50
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet (2008) 1.49
Therapeutic doses of topiramate are not toxic to the developing rat brain. Exp Neurol (2004) 1.49
Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. Am J Med Genet A (2006) 1.45
Limits of early diagnosis of herpes simplex encephalitis in children: a retrospective study of 38 cases. Clin Infect Dis (2003) 1.44
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet (2004) 1.44
Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet (2013) 1.43
Suppression of the intrinsic apoptosis pathway by synaptic activity. J Neurosci (2010) 1.40
Loss of tolerance to one or two major targets in Crohn's disease or just cross-reactivity? J Crohns Colitis (2013) 1.40
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol (2006) 1.39
Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene. J Child Neurol (2009) 1.39
Retracted Evaluation of 3D surface scanners for skin documentation in forensic medicine: comparison of benchmark surfaces. BMC Med Imaging (2007) 1.39
Acute plasma biomarkers of T cell activation set-point levels and of disease progression in HIV-1 infection. PLoS One (2012) 1.39
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat (2011) 1.36
A mutation screen in patients with Kabuki syndrome. Hum Genet (2011) 1.36
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med (2012) 1.35
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet (2008) 1.34
Levetiracetam: safety and efficacy in neonatal seizures. Eur J Paediatr Neurol (2010) 1.33
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol (2003) 1.33
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet (2012) 1.32
Expression of glutamate receptor subunits in human cancers. Histochem Cell Biol (2009) 1.31
HIV type 1-infected dendritic cells induce apoptotic death in infected and uninfected primary CD4 T lymphocytes. AIDS Res Hum Retroviruses (2004) 1.31
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet (2010) 1.31
NMDA antagonist inhibits the extracellular signal-regulated kinase pathway and suppresses cancer growth. Proc Natl Acad Sci U S A (2005) 1.30
Mechanisms leading to disseminated apoptosis following NMDA receptor blockade in the developing rat brain. Neurobiol Dis (2004) 1.30
Type I interferon production in HIV-infected patients. J Leukoc Biol (2006) 1.29
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat (2011) 1.28
Evaluation of the one-step multiplex real-time reverse transcription-PCR ProFlu-1 assay for detection of influenza A and influenza B viruses and respiratory syncytial viruses in children. J Clin Microbiol (2007) 1.28
Viruses induce high expression of BAFF by salivary gland epithelial cells through TLR- and type-I IFN-dependent and -independent pathways. Eur J Immunol (2008) 1.27
Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet (2002) 1.26