Published in J Histochem Cytochem on February 01, 2001
Deletional tolerance mediated by extrathymic Aire-expressing cells. Science (2008) 4.10
Extrathymic Aire-expressing cells are a distinct bone marrow-derived population that induce functional inactivation of CD4⁺ T cells. Immunity (2013) 1.81
The autoimmune regulator prevents premature reproductive senescence in female mice. Biol Reprod (2012) 1.42
Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomas. Clin Exp Immunol (2007) 1.05
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity. Clin Exp Immunol (2004) 0.97
Overexpression of the IGF2-mRNA binding protein p62 in transgenic mice induces a steatotic phenotype. J Hepatol (2010) 0.96
Expression and function of the autoimmune regulator (Aire) gene in non-thymic tissue. Clin Exp Immunol (2011) 0.82
Models of aire-dependent gene regulation for thymic negative selection. Front Immunol (2011) 0.80
Thyroid antigens, not central tolerance, control responses to immunization in BALB/c versus C57BL/6 mice. Thyroid (2009) 0.79
AIRE polymorphism, melanoma antigen-specific T cell immunity, and susceptibility to melanoma. Oncotarget (2016) 0.77
APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors. Front Immunol (2013) 0.77
Expression of the autoimmune regulator gene and its relevance to the mechanisms of central and peripheral tolerance. Clin Dev Immunol (2012) 0.77
Autoimmune Regulator (AIRE) Is Expressed in Spermatogenic Cells, and It Altered the Expression of Several Nucleic-Acid-Binding and Cytoskeletal Proteins in Germ Cell 1 Spermatogonial (GC1-spg) Cells. Mol Cell Proteomics (2016) 0.75
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Aesthet Dermatol (2012) 0.75
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Cloning of a novel receptor expressed in rat prostate and ovary. Proc Natl Acad Sci U S A (1996) 10.94
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell (1998) 9.85
A unique cap(m7GpppXm)-dependent influenza virion endonuclease cleaves capped RNAs to generate the primers that initiate viral RNA transcription. Cell (1981) 8.09
Role of two of the influenza virus core P proteins in recognizing cap 1 structures (m7GpppNm) on RNAs and in initiating viral RNA transcription. Proc Natl Acad Sci U S A (1981) 5.10
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
Kinetics of human soluble and membrane-bound catechol O-methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme. Biochemistry (1995) 4.10
Molecular model of a eucaryotic transcription complex: functions and movements of influenza P proteins during capped RNA-primed transcription. Cell (1983) 3.93
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature (1995) 3.78
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet (2000) 3.39
A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res (2000) 2.94
Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res (1997) 2.90
Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med (1990) 2.86
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology (2005) 2.77
Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern. J Clin Endocrinol Metab (1997) 2.73
Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science (2000) 2.66
Influenza virus temperature-sensitive cap (m7GpppNm)-dependent endonuclease. J Virol (1983) 2.53
An MDL method for finding haplotype blocks and for estimating the strength of haplotype block boundaries. Pac Symp Biocomput (2003) 2.45
Predisposition to familial osteoarthrosis linked to type II collagen gene. Lancet (1989) 2.43
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry (2009) 2.29
Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet (1998) 2.21
A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Hum Genet (1999) 2.15
Transcription and translation of foreign genes in Bacillus subtilis by the aid of a secretion vector. J Bacteriol (1985) 2.08
Meiotic drive at the myotonic dystrophy locus? Nat Genet (1994) 2.08
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet (1994) 2.08
Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry (2008) 2.07
Estrogen receptor beta is coexpressed with ERalpha and PR and associated with nodal status, grade, and proliferation rate in breast cancer. Am J Pathol (2000) 2.07
Meta-analysis of genome-wide association studies for personality. Mol Psychiatry (2010) 1.96
Chromosome 1 loci in Finnish schizophrenia families. Hum Mol Genet (2001) 1.95
Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet (2000) 1.93
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA. Proc Natl Acad Sci U S A (1987) 1.87
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet (2000) 1.87
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics (1992) 1.81
Hormone therapy failure in human prostate cancer: analysis by complementary DNA and tissue microarrays. J Natl Cancer Inst (1999) 1.81
A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2. Nat Genet (1996) 1.81
Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene. Lancet (1992) 1.79
Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet (2000) 1.77
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet (1999) 1.76
Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. Am J Hum Genet (2001) 1.72
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. Clin Endocrinol (Oxf) (2001) 1.69
Differences in DNA-fingerprints between remission and relapse in childhood acute lymphoblastic leukemia. Leuk Res (1988) 1.67
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe. Hum Mol Genet (1998) 1.67
Gene defect in hypodontia: exclusion of EGF, EGFR, and FGF-3 as candidate genes. J Dent Res (1996) 1.66
A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle. Genes Dev (2000) 1.65
Serum complement and familial combined hyperlipidemia. Atherosclerosis (1997) 1.64
In vitro translation of Uukuniemi virus-specific RNAs: identification of a nonstructural protein and a precursor to the membrane glycoproteins. J Virol (1981) 1.63
Genomic organization of the human catechol O-methyltransferase gene and its expression from two distinct promoters. Eur J Biochem (1994) 1.62
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics (1993) 1.61
Association of DISC1 with autism and Asperger syndrome. Mol Psychiatry (2007) 1.60
Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet (2008) 1.59
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet (1998) 1.58
Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet (1997) 1.57
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet (2001) 1.57
Semliki Forest virus capsid protein associates with the 60S ribosomal subunit in infected cells. J Virol (1976) 1.57
OR-1, a member of the nuclear receptor superfamily that interacts with the 9-cis-retinoic acid receptor. Proc Natl Acad Sci U S A (1995) 1.56
Three-dimensional structure of human lysosomal aspartylglucosaminidase. Nat Struct Biol (1995) 1.56
Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine (Phila Pa 1976) (1998) 1.56
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A (1992) 1.54
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet (1994) 1.53
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology (2001) 1.53
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat Genet (1998) 1.52
Rubella virus 40S genome RNA specifies a 24S subgenomic mRNA that codes for a precursor to structural proteins. J Virol (1984) 1.51
Genetic polymorphism of catechol-O-methyltransferase (COMT): correlation of genotype with individual variation of S-COMT activity and comparison of the allele frequencies in the normal population and parkinsonian patients in Finland. Pharmacogenetics (1997) 1.50
Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res (1998) 1.49
Replication of 1q42 linkage in Finnish schizophrenia pedigrees. Mol Psychiatry (2004) 1.49
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet (1994) 1.47
DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder. Mol Psychiatry (2008) 1.47
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet (1996) 1.46
A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia. Mol Psychiatry (2005) 1.44
Association between novelty seeking and the type 4 dopamine receptor gene in a large Finnish cohort sample. Am J Psychiatry (1999) 1.42
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet (1996) 1.41
Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry (2010) 1.41
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders. Mol Psychiatry (2006) 1.39
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet (1998) 1.37
A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide. Proc Natl Acad Sci U S A (1980) 1.36
An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet (1995) 1.36
Thermal stability of type I and type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A (1980) 1.36
A novel mutation of the fibrillin gene causing ectopia lentis. Genomics (1994) 1.36
Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med (2009) 1.35
Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q. Am J Hum Genet (1999) 1.35
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet (1995) 1.34
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J (1991) 1.33
Cloning and characterization of RAP250, a novel nuclear receptor coactivator. J Biol Chem (2000) 1.31
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics (1990) 1.30
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest (1992) 1.30
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology (2001) 1.28
Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo. Eur J Hum Genet (2000) 1.27
Studies on the helical nucleocapsid of influenza virus. Virology (1982) 1.27
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet (1995) 1.27
An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32. Hum Mol Genet (1992) 1.25
Structural analyses of the polymorphic area in type II collagen gene. FEBS Lett (1989) 1.25
Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet (1997) 1.24
Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. EMBO J (1996) 1.24
Replication of linkage on chromosome 7q22 and association of the regional Reelin gene with working memory in schizophrenia families. Mol Psychiatry (2007) 1.24
Cloning, expression and structure of catechol-O-methyltransferase. Biochim Biophys Acta (1995) 1.24
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology (1997) 1.23