APECED mutations in the autoimmune regulator (AIRE) gene

Human Mutation

Volumn 18, Issue 3, 2001, Pages 205-211

  Heino, Maarit ^a,e   Peterson, Prt ^a   Kudoh, Jun ^b   Shimizu, Nobuyoshi ^b   Antonarakis, Stylianos E ^c   Scott, Hamish S ^d   Krohn, Kai ^a  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b KEIO UNIVERSITY   (Japan)

^c UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^d WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^e UNIVERSITY OF TAMPERE   (Finland)

Author keywords

AIRE; APECED; APS1; APSI; Autoimmunity; Mutation analysis; Polyendocrinopathy

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; DNA; GENE PRODUCT; REGULATOR PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADRENAL CORTEX INSUFFICIENCY; AIRE GENE; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; CELLULAR DISTRIBUTION; CHROMOSOME 21Q; DNA BINDING; FRAMESHIFT MUTATION; GENE DELETION; GENE FUSION; GENE INSERTION; GENE MUTATION; HUMAN; HYPOPARATHYROIDISM; INSULIN DEPENDENT DIABETES MELLITUS; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MOTIF; PROTEIN PROCESSING; REGULATOR GENE; REPORTER GENE; REVIEW; TRANSACTIVATION;

HUMANS; MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; TRANSCRIPTION FACTORS;

EID: 0034869235     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1176     Document Type: Review

References (35)

1. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
2. Localization of the APECED protein in distinct nuclear structures
3. Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein
4. The mouse Aire gene: Comparative genomic sequencing, gene organization, and expression
5. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED
6. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
7. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
8. The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor
9. Splice variants of the nuclear dot-associated Sp100 protein contain homologies to HMG-1 and a human nuclear phosphoprotein-box motif
10. ss-Cell autoantibodies, human leukocyte antigen II alleles, and type I diabetes in autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy
11. Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla
12. Mutation analyses of North American APS-1 patients
13. RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse
14. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
15. The KMDB/Mutation View: A mutation database for human disease genes
16. Isolation and characterization of the mouse Aire gene
17. Three sisters with Addison's disease
18. Autoimmune polyendocrine syndrome type 1 (APS I) in Norway
19. Positional cloning of the APECED gene
20. Autoimmune polyglandular syndromes
21. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1
22. Autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy (APECED)
23. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein
24. Phenotypic diversity, allelic series and modifier genes
25. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
26. Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
27. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
28. Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison's disease
29. Nuclear dots: Actors on many stages
30. The nuclear dot protein sp100, characterization of domains necessary for dimerization, subcellular localization, and modification by small ubiquitin-like modifiers
31. Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease
32. Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)
33. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: Response to immunosuppressive therapy
34. Polyglandular autoimmune syndrome type I among Iranian Jews
35. Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)