AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I (Q57506468)

2

B Oftedal

0 references

Eystein Husebye

8

E S Husebye

0 references

Oluf Borbye Pedersen

7

C Pedersen

0 references

Anette Susanne Bøe Wolff

1

A S Bøe Wolff

0 references

author name string

O Bruland

4

0 references

K Løvås

5

0 references

A Meager

6

0 references

P M Knappskog

https://scigraph.springernature.com/pub.10.1038/sj.gene.6364457

9

0 references

publication date

17 January 2008

0 references

published in

Genes and Immunity

0 references

volume

9

0 references

issue

2

0 references

page(s)

130-136

0 references

exact match

0 references

cites work

Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Autoimmune Adrenocortical Failure in Norway Autoantibodies and Human Leukocyte Antigen Class II Associations Related to Clinical Features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Projection of an immunological self shadow within the thymus by the aire protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Gene dosage--limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Genetic lesions in T-cell tolerance and thresholds for autoimmunity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Identification of tryptophan hydroxylase as an intestinal autoantigen

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Haploview: analysis and visualization of LD and haplotype maps

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

The structure of haplotype blocks in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Mutation analyses of North American APS-1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

AIRE functions as an E3 ubiquitin ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Polymorphisms at +49A/G and CT60 sites in the 3' UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

Disruption of immunological tolerance: role of AIRE gene in autoimmunity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

7 January 2021

Autoimmune adrenocortical failure in Norway autoantibodies and human leukocyte antigen class II associations related to clinical features

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

7 January 2021

HLA-DRB1 and MICA in autoimmunity: common associated alleles in autoimmune disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

7 January 2021

Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

7 January 2021

Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

7 January 2021

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

1 reference

7 January 2021

Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

7 January 2021

Real-time DNA quantification of nuclear and mitochondrial DNA in forensic analysis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

7 January 2021

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6364457

7 January 2021