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

Positional cloning of the APECED gene

1997 • 1,385 citations

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

1997 • 1,155 citations

Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

1990 • 1,041 citations

Nonsense-mediated mRNA decayin health and disease

1999 • 974 citations

Genetic Analysis of Autoimmune Disease

1996 • 739 citations

Autoimmune Polyglandular Syndrome Type 1

1998 • 422 citations

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

2000 • 358 citations

Polyglandular autoimmune syndrome type I among Iranian Jews.

1992 • 308 citations

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

1999 • 293 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

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

Blot hybridisation analysis of genomic DNA.

1984 • 224 citations

Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure.

1996 • 214 citations

Identification of tryptophan hydroxylase as an intestinal autoantigen

1998 • 190 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

Autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy (APECED): autosomal recessive inheritance

1985 • 180 citations

Adrenal and Steroidal Cell Antibodies in Patients with Autoimmune Polyglandular Disease Type I and Risk of Adrenocortical and Ovarian Failure*

1987 • 179 citations

Molecular Basis for HLA-DQ Associations With IDDM

1998 • 173 citations

Inherited Susceptibility to Autoimmune Addison's Disease Is Linked to Juman Leukocyte Antigens-DR3 and/or DR4, except when Associated with Type I Autoimmune Poluglandular Syndrome*

1986 • 155 citations

Autoimmune polyendocrine syndrome type 1 (APS I) in Norway

2001 • 146 citations

DRB1104 and DQ Alleles: Expression of 21-Hydroxylase Autoantibodies and Risk of Progression to Addison’s Disease1

1999 • 145 citations

APECED mutations in the autoimmune regulator (AIRE) gene

2001 • 140 citations

Microsatellite Polymorphism of the MHC Class I Chain-Related (MIC-A and MIC-B) Genes Marks the Risk for Autoimmune Addison’s Disease

1999 • 136 citations

HLA complex genes in type 1 diabetes and other autoimmune diseases. Which genes are involved?

2001 • 123 citations

Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I.

1996 • 120 citations

Genetic homogeneity of autoimmune polyglandular disease type I.

1996 • 117 citations

Complexity in a monogenic disease

1996 • 117 citations

Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in beta-cell autoimmunity.

1996 • 113 citations

The Genetic Basis of Alopecia Areata: HLA Associations with Patchy Alopecia Areata Versus Alopecia Totalis and Alopecia Universalis

1999 • 112 citations

A cytotoxic T lymphocyte antigen‐4 (CTLA‐4) gene polymorphism is associated with autoimmune Addison's disease in English patients

1998 • 109 citations

In Vivo Evidence for the Contribution of Human Histocompatibility Leukocyte Antigen (Hla)-Dq Molecules to the Development of Diabetes

2000 • 103 citations

Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

2000 • 97 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

Science, medicine, and the future: Single gene disorders or complex traits: lessons from the thalassaemias and other monogenic diseases

2000 • 94 citations

The Expression of Autoimmune Polyglandular Disease Type I Appears Associated With Several HLA-A Antigens But Not With HLA-DR*

1988 • 93 citations

Modifier genes in humans: strategies for identification

1998 • 83 citations

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

2000 • 83 citations

Exceptional stability of the HLA-DQA1*0102/DQB1*0602 alpha beta protein dimer, the class II MHC molecule associated with protection from insulin-dependent diabetes mellitus.

1998 • 70 citations

HLA associations with autoimmune Addison's disease

1991 • 61 citations

Major histocompatibility complex class II and III in Addison's disease MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility

1994 • 52 citations

Antibodies Against Hair Follicles are Associated with Alopecia Totalis in Autoimmune Polyendocrine Syndrome Type I

1999 • 52 citations

Reevaluation of the importance of polymorphic HLA class II alleles and amino acids in the susceptibility of individuals of different populations to type I diabetes

1998 • 40 citations

Pteridin-Dependent Hydroxylases as Autoantigens in Autoimmune Polyendocrine Syndrome Type I1

2000 • 37 citations

Type 1 autoimmune polyglandular disease.

1999 • 28 citations

5′ Insulin Gene Polymorphism Confers Risk to IDDM Independently of HLA Class II Susceptibility

1993 • 26 citations

Autoimmunity to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED)

2000 • 23 citations

Steroid 21‐hydroxylase gene polymorphism in Addison's disease patients

1995 • 22 citations

Genetic predisposition to autoimmune endocrine diseases.

1999 • 4 citations