Citation Impact
Citing Papers
Control of Regulatory T Cell Development by the Transcription Factor Foxp3
2003 StandoutScienceNobel
Sex Differences in the Gut Microbiome Drive Hormone-Dependent Regulation of Autoimmunity
2013 StandoutScience
Spontaneous autoimmunity prevented by thymic expression of a single self-antigen
2006
The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency
2008
Selective delivery of β cell antigen to dendritic cells in vivo leads to deletion and tolerance of autoreactive CD8 + T cells in NOD mice
2008 StandoutNobel
Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency
2009
Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
2008
Aire-Dependent Thymic Development of Tumor-Associated Regulatory T Cells
2013 StandoutScienceNobel
Projection of an Immunological Self Shadow Within the Thymus by the Aire Protein
2002 StandoutScience
Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype
2009
Genome-scale DNA methylation maps of pluripotent and differentiated cells
2008 StandoutNature
Nucleotides released by apoptotic cells act as a find-me signal to promote phagocytic clearance
2009 StandoutNature
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
2001 StandoutNobel
Growth Hormone Treatment of Non–Growth Hormone-Deficient Growth Disorders
2007
JM2, encoding a fork head–related protein, is mutated in X-linked autoimmunity–allergic disregulation syndrome
2000
Gout-associated uric acid crystals activate the NALP3 inflammasome
2006 StandoutNature
Transcription factors in autoimmunity
2003 StandoutNobel
Back to Central Tolerance
2004 Standout
The genetics of ageing
2010 StandoutNature
Estrogen: Consequences and Implications of Human Mutations in Synthesis and Action1
1999
The genetic background of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy and its autoimmune disease components
2002
The Autoimmune Regulator (AIRE) Is a DNA-binding Protein
2001
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
1998
The Autoimmune Regulator Protein Has Transcriptional Transactivating Properties and Interacts with the Common Coactivator CREB-binding Protein
2000
Estrogen receptor α is a major mediator of 17β-estradiol’s atheroprotective effects on lesion size in Apoe–/– mice
2001 StandoutNobel
P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia
2006
A decade of AIRE
2007
A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1
1998
Central tolerance: learning self-control in the thymus
2005
Regulatory T Cells and Immune Tolerance
2008 StandoutNobel
Control of Autoimmunity by Naturally Arising Regulatory CD4+ T Cells
2003 StandoutNobel
Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro
2010
Animal models of autoimmunity and their relevance to human diseases
2000 StandoutNobel
Tolerance and Autoimmunity
2001
Commitment to the Regulatory T Cell Lineage Requires CARMA1 in the Thymus but Not in the Periphery
2009 StandoutNobel
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse
2000
Estimating the proportion of microarray probes expressed in an RNA sample
2010
Thymic selection revisited: how essential is it?
2003
Immunogenicity of induced pluripotent stem cells
2011 StandoutNature
Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase
2010
Normal Female Infants Born of Mothers with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency1
1999
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome
2000
Autoimmune regulator: from loss of function to autoimmunity
2003
AIRE Mutations and Human Leukocyte Antigen Genotypes as Determinants of the Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Phenotype
2002
Altered thymic T-cell selection due to a mutation of the ZAP-70 gene causes autoimmune arthritis in mice
2003 StandoutNatureNobel
Aire deficient mice develop multiple features of APECED phenotype and show altered immune response
2002
The GH/IGF-1 axis in ageing and longevity
2013
An essential role for Scurfin in CD4+CD25+ T regulatory cells
2003 StandoutNobel
APECED: a monogenic autoimmune disease providing new clues to self-tolerance
1998
Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein
2000
Modulation of Aire regulates the expression of tissue-restricted antigens
2007
TRP channels as cellular sensors
2003 StandoutNature
β-Cell Autoantibodies, Human Leukocyte Antigen II Alleles, and Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy*
2000
Rapamycin fed late in life extends lifespan in genetically heterogeneous mice
2009 StandoutNature
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
The stages of type 1A diabetes: 2005
2005
Mechanisms of immunological tolerance
2015
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
2001 StandoutNobel
Immunity by ubiquitylation: a reversible process of modification
2005
A TRP Channel that Senses Cold Stimuli and Menthol
2002 StandoutNobel
limma powers differential expression analyses for RNA-sequencing and microarray studies
2015 Standout
Gene defect behind APECED: a new clue to autoimmunity
1998
Good riddance: thymocyte clonal deletion prevents autoimmunity
2004
The role of regulatory T cells in controlling immunologic self-tolerance
2003 StandoutNobel
WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple Myeloma
1998
p63 is a p53 homologue required for limb and epidermal morphogenesis
1999 StandoutNature
Negative selection and autoimmunity
2003
Modeling the structure of the StART domains of MLN64 and StAR proteins in complex with cholesterol
2006
Evidence for Down-Regulation of Phosphoinositide 3-Kinase/Akt/Mammalian Target of Rapamycin (PI3K/Akt/mTOR)-Dependent Translation Regulatory Signaling Pathways in Ames Dwarf Mice
2005
Autoimmune Regulator Is Expressed in the Cells Regulating Immune Tolerance in Thymus Medulla
1999
Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia
2006
The TNF and TNF Receptor Superfamilies
2001 Standout
Aging in inbred strains of mice: study design and interim report on median lifespans and circulating IGF1 levels
2009
Molecular Cloning of a Novel Putative Ca2+Channel Protein (TRPC7) Highly Expressed in Brain
1998
10 Years ofGenomics,Chromosome 21, and Down Syndrome
1998
Autoimmune disease: why and where it occurs
2001
Aire regulates negative selection of organ-specific T cells
2003
APECED mutations in the autoimmune regulator (AIRE) gene
2001
Scurfin (FOXP3) Acts as a Repressor of Transcription and Regulates T Cell Activation
2001 StandoutNobel
TNFRSF1A mutations and autoinflammatory syndromes
2000
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley–Bixler syndrome phenotype
2004
Hormonal regulation of longevity in mammals
2007
Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19
2008
Immunoregulatory and Susceptibility Genes in Thyroid and Polyglandular Autoimmunity
2005
A trithorax-group complex purified from Saccharomyces cerevisiae is required for methylation of histone H3
2001 StandoutNobel
Pathophysiology of the Neuroregulation of Growth Hormone Secretion in Experimental Animals and the Human*
1998 Standout
Clinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients
2009
Naturally Arising CD4+Regulatory T Cells for Immunologic Self -Tolerance and Negative Control of Immune Responses
2003 StandoutNobel
The Inherited Basis of Diabetes Mellitus: Implications for the Genetic Analysis of Complex Traits
2003
CD4+CD25−LAG3+regulatory T cells controlled by the transcription factor Egr-2
2009 StandoutNobel
Aire
2009
Three Yeast Proteins Related to the Human Candidate Tumor Suppressor p33ING1 Are Associated with Histone Acetyltransferase Activities
2000
Management of growth hormone deficiency in adults
2007
Cloning of a Mammalian Transcriptional Activator That Binds Unmethylated CpG Motifs and Shares a CXXC Domain with DNA Methyltransferase, Human Trithorax, and Methyl-CpG Binding Domain Protein 1
2000
Loss of the autophagy protein Atg16L1 enhances endotoxin-induced IL-1β production
2008 StandoutNature
Estrogen Receptor Null Mice: What Have We Learned and Where Will They Lead Us?
1999 Standout
Colony Inhibition of Fibroblasts from Chimeric Dogs Mediated by the Dogs' Own Lymphocytes and Specifically Abrogated by Their Serum
1970 StandoutNobel
Generation and reproductive phenotypes of mice lacking estrogen receptor β
1998 StandoutNobel
Abolition of male sexual behaviors in mice lacking estrogen receptors α and β (αβERKO)
2000 StandoutNobel
Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene
1998
Functional mapping of disease susceptibility loci using cell biology
2006 StandoutNobel
Immune-Related Adverse Events Associated with Immune Checkpoint Blockade
2018 Standout
Genetics of P450 oxidoreductase: Sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations
2008
Minireview: Role of the Growth Hormone/Insulin-Like Growth Factor System in Mammalian Aging
2005
Normal Thymic Architecture and Negative Selection Are Associated with Aire Expression, the Gene Defective in the Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
2000
Spermidine in health and disease
2018 StandoutScience
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Avoiding horror autotoxicus: The importance of dendritic cells in peripheral T cell tolerance
2002 StandoutNobel
AIRE Functions As an E3 Ubiquitin Ligase
2004
Subcellular Location and Expression Pattern of Autoimmune Regulator (Aire), the Mouse Orthologue for Human Gene Defective in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)
2001
Efficient Targeting of Protein Antigen to the Dendritic Cell Receptor DEC-205 in the Steady State Leads to Antigen Presentation on Major Histocompatibility Complex Class I Products and Peripheral CD8+ T Cell Tolerance
2002 StandoutNobel
PD-1 deficiency reveals various tissue-specific autoimmunity by H-2band dose-dependent requirement of H-2g7for diabetes in NOD mice
2008 StandoutNobel
Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)
2010
Detection of T cell responses to a ubiquitous cellular protein in autoimmune disease
2014 StandoutScienceNobel
Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy
2002
THE NOD MOUSE: A Model of Immune Dysregulation
2004
Failure to Censor Forbidden Clones of CD4 T Cells in Autoimmune Diabetes
2002
Immunotherapy: Bewitched, Bothered, and Bewildered No More
2004 StandoutScienceNobel
Protein Glycoengineering Enabled by the Versatile Synthesis of Aminooxy Glycans and the Genetically Encoded Aldehyde Tag
2011 StandoutNobel
Extending Healthy Life Span—From Yeast to Humans
2010 StandoutScience
Aromatase—A Brief Overview
2002
How defects in central tolerance impinge on a deficiency in regulatory T cells
2005
Works of Primus E. Mullis being referenced
Restoration of mutant cytochrome P450 reductase activity by external flavin
2010
Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade
2001
Modulation of Human CYP19A1 Activity by Mutant NADPH P450 Oxidoreductase
2007
Reduced Longevity in Untreated Patients with Isolated Growth Hormone Deficiency
2003
Modeling of human P450 oxidoreductase structure by in silico mutagenesis and MD simulation
2009
Positional cloning of the APECED gene
1997
Growth hormone replacement therapy for adults: Into the new millennium
2002
A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal Hyperplasia
2005
Isolated Growth Hormone Deficiency: Testing the little Mouse Hypothesis in Man and Exclusion of Mutations within the Extracellular Domain of the Growth Hormone-Releasing Hormone Receptor
1995
Aromatase Deficiency in a Female Who Is Compound Heterozygote for Two New Point Mutations in the P450arom Gene: Impact of Estrogens on Hypergonadotropic Hypogonadism, Multicystic Ovaries, and Bone Densitometry in Childhood1
1997
Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg→Cys at Codon 120 (R120C)1
1998
Short Stature Caused by a Biologically Inactive Mutant Growth Hormone (GH-C53S)
2005