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Autoimmune regulator: from loss of function to autoimmunity

Data up to Jan 2025

Published2003
Citations137
References93

Total Citations Per Year

Abstract

References (93)

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Positional cloning of the APECED gene

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CRM1 is responsible for intracellular transport mediated by the nuclear export signal

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An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

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p300/CBP proteins: HATs for transcriptional bridges and scaffolds

2001 • 1,046 citations

Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self

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Leptomycin B inactivates CRM1/exportin 1 by covalent modification at a cysteine residue in the central conserved region

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Role of CBP/P300 in nuclear receptor signalling

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Structure and Function in the Nucleus

1998 • 925 citations

An essential role for p300/CBP in the cellular response to hypoxia

1996 • 780 citations

A leucine-rich nuclear export signal in the p53 tetramerization domain: regulation of subcellular localization and p53 activity by NES masking

1999 • 727 citations

Autoimmune Adrenal Insufficiency and Autoimmune Polyendocrine Syndromes: Autoantibodies, Autoantigens, and Their Applicability in Diagnosis and Disease Prediction

2002 • 682 citations

Adenoviral ElA-associated protein p300 as a functional homologue of the transcriptional co-activator CBP

1995 • 578 citations

The coactivator TIF2 contains three nuclear receptor-binding motifs and mediates transactivation through CBP binding-dependent and -independent pathways

1998 • 516 citations

Cooperation of Stat2 and p300/CBP in signalling induced by interferon-α

1996 • 492 citations

Autoimmune Polyglandular Syndromes

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Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

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Leptomycin B targets a regulatory cascade of crm1, a fission yeast nuclear protein, involved in control of higher order chromosome structure and gene expression.

1994 • 453 citations

21-hydroxylase, a major autoantigen in idiopathic Addison's disease

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Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein

2000 • 358 citations

Impaired Negative Selection of T Cells in Hodgkin's Disease Antigen CD30–Deficient Mice

1996 • 316 citations

Polyglandular autoimmune syndrome type I among Iranian Jews.

1992 • 308 citations

Nuclear-cytoplasmic shuttling of C-ABL tyrosine kinase

1998 • 307 citations

Autoimmune Regulator Is Expressed in the Cells Regulating Immune Tolerance in Thymus Medulla

1999 • 293 citations

A novel member of the RING finger family, KRIP-1, associates with the KRAB-A transcriptional repressor domain of zinc finger proteins

1996 • 278 citations

Normal Thymic Architecture and Negative Selection Are Associated with Aire Expression, the Gene Defective in the Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)

2000 • 261 citations

The Nuclear Dot Protein Sp100, Characterization of Domains Necessary for Dimerization, Subcellular Localization, and Modification by Small Ubiquitin-like Modifiers

1999 • 258 citations

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

1998 • 244 citations

The Autoimmune Regulator Protein Has Transcriptional Transactivating Properties and Interacts with the Common Coactivator CREB-binding Protein

2000 • 239 citations

Transcriptional control: Versatile molecular glue

1996 • 231 citations

The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation.

2001 • 222 citations

Triple post‐transcriptional control

1990 • 217 citations

Nuclear export of proteins and RNAs

1997 • 209 citations

Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease.

1993 • 203 citations

Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17α-hydroxylase

1992 • 201 citations

A Novel Mutation of the Autoimmune Regulator Gene in an Italian Kindred with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Acting in a Dominant Fashion and Strongly Cosegregating with Hypothyroid Autoimmune Thyroiditis

2001 • 199 citations

A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1

1998 • 198 citations

Promiscuous gene expression and central T-cell tolerance: more than meets the eye

2002 • 198 citations

The multifunctional role of the co-activator CBP in transcriptional regulation.

1997 • 197 citations

AIRE Mutations and Human Leukocyte Antigen Genotypes as Determinants of the Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Phenotype

2002 • 195 citations

RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse

2000 • 185 citations

Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease.

1994 • 182 citations

Modulation of CREB binding protein function by the promyelocytic (PML) oncoprotein suggests a role for nuclear bodies in hormone signaling

1999 • 173 citations

The Autoimmune Regulator (AIRE) Is a DNA-binding Protein

2001 • 172 citations

Common Mutations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients of Different Origins

1998 • 171 citations

Localization of the APECED protein in distinct nuclear structures

1999 • 154 citations

Identification of a Functional Nuclear Export Sequence in BRCA1

2000 • 153 citations

Nuclear Cytoplasmic Shuttling by Thyroid Hormone Receptors

2001 • 149 citations

Nuclear dots: Actors on Many Stages

1997 • 148 citations

Autoimmune polyendocrine syndrome type 1 (APS I) in Norway

2001 • 146 citations

APECED mutations in the autoimmune regulator (AIRE) gene

2001 • 140 citations

Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in an Adolescent Girl with a NovelAIREMutation: Response to Immunosuppressive Therapy1

1999 • 136 citations

Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)

1998 • 136 citations

Expression of AIRE gene in peripheral monocyte/dendritic cell lineage

2002 • 130 citations

Subcellular Localization of the Autoimmune Regulator Protein

2001 • 127 citations

Mutation analyses of North American APS-1 patients

1999 • 125 citations

AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers

1999 • 113 citations

Positive Selection Through a Motif in the αβ T Cell Receptor

1998 • 111 citations

Nuclear punctate distribution of ALL-1 is conferred by distinct elements at the N terminus of the protein

1997 • 108 citations

Association Analysis of the Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Autoimmune Regulator-1 (AIRE-1) Genes in Sporadic Autoimmune Addison’s Disease1

2000 • 103 citations

Nuclear transport and transcription

2000 • 100 citations

Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen.

1995 • 98 citations

Subcellular Location and Expression Pattern of Autoimmune Regulator (Aire), the Mouse Orthologue for Human Gene Defective in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)

2001 • 97 citations

Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

2001 • 90 citations

Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy

2002 • 83 citations

β-Cell Autoantibodies, Human Leukocyte Antigen II Alleles, and Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy*

2000 • 83 citations

Chemokines and lymphopoiesis in human thymus

2001 • 82 citations

High CD30 Ligand Expression by Epithelial Cells and Hassal's Corpuscles in the Medulla of Human Thymus

1998 • 80 citations

The MouseAireGene: Comparative Genomic Sequencing, Gene Organization, and Expression

1999 • 78 citations

Characterization of a Nuclear Deformed Epidermal Autoregulatory Factor-1 (DEAF-1)-Related (NUDR) Transcriptional Regulator Protein

1998 • 73 citations

Isolation and Characterization of the MouseAireGene

1999 • 68 citations

Autoimmune Polyendocrinopathy - Candidiasis - Ectodermal Dystrophy (APECED)

1996 • 66 citations

Splice variants of the nuclear dot-associated Sp100 protein contain homologies to HMG-1 and a human nuclear phosphoprotein-box motif

1999 • 61 citations

Screening for an AIRE‐1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome

2001 • 59 citations

Autoantibodies against Aromatic l-Amino Acid Decarboxylase Identifies a Subgroup of Patients with Addison’s Disease1

2000 • 57 citations

Cutting Edge: Thymic Selection and Autoreactivity Are Regulated by Multiple Coreceptors Involved in T Cell Activation

1999 • 55 citations

The PML nuclear compartment and cancer

1996 • 52 citations

Over-expression of CD3ε transgenes blocks T lymphocyte development

1995 • 51 citations

Novel Mutations of the Autoimmune Regulator Gene in Two Siblings with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy1

2000 • 47 citations

The Thymus and Negative Selection

2000 • 46 citations

Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

2001 • 46 citations

A Heterozygous Deletion of the Autoimmune Regulator (AIRE1) Gene, Autoimmune Thyroid Disease, and Type 1 Diabetes: No Evidence for Association1

2000 • 44 citations

Disorganization of Thymic Medulla Precedes Evolution Towards Diabetes in Female NOD Mice

1999 • 28 citations

Effect of Ligand and DNA Binding on the Interaction between Human Transcription Intermediary Factor 1α and Estrogen Receptors

1999 • 24 citations

Three Sisters with Addison’s Disease

1998 • 21 citations

Thymus reticulum of autoimmune mice. 3. Ultrastructural study of NOD (non-obese diabetic) mouse thymus.

1991 • 17 citations

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Autoimmune regulator: from loss of function to autoimmunity (2003) – Genes and Immunity | Metascience Observatory Explorer