APECED mutations in the autoimmune regulator (AIRE) gene (Q28214535)

Europe PubMed Central

title

APECED mutations in the autoimmune regulator (AIRE) gene (English)

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P Peterson

2

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author name string

M Heino

1

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J Kudoh

3

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N Shimizu

4

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S E Antonarakis

5

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H S Scott

6

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K Krohn

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

7

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language of work or name

English

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publication date

September 2001

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published in

Human Mutation

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volume

18

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issue

3

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page(s)

205-11

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cites work

1 reference

Localization of the APECED protein in distinct nuclear structures

21 January 2018

1 reference

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein

21 January 2018

1 reference

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

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

21 January 2018

1 reference

The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor

21 January 2018

1 reference

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

21 January 2018

1 reference

Mutation analyses of North American APS-1 patients

21 January 2018

1 reference

The KMDB/MutationView: a mutation database for human disease genes

21 January 2018

1 reference

Isolation and characterization of the mouse Aire gene.

21 January 2018

1 reference

Autoimmune polyendocrine syndrome type 1 (APS I) in Norway

21 January 2018

1 reference

Positional cloning of the APECED gene

21 January 2018

1 reference

A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1

21 January 2018

1 reference

Autoimmune polyendocrinopathy--candidiasis--ectodermal dystrophy (APECED).

21 January 2018

1 reference

The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

21 January 2018

1 reference

Nuclear dots: actors on many stages

21 January 2018

1 reference

The nuclear dot protein sp100, characterization of domains necessary for dimerization, subcellular localization, and modification by small ubiquitin-like modifiers

21 January 2018

1 reference

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

21 January 2018

1 reference

Polyglandular autoimmune syndrome type I among Iranian Jews

21 January 2018

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Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

21 January 2018

1 reference

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

21 January 2018

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Phenotypic diversity, allelic series and modifier genes

21 January 2018

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

21 January 2018

1 reference