|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The linkage analyses coupled with the EXCLUDE analysis resulted in an exclusion map of this polyglandular autoimmune disease and in the preliminary assignment of the APECED locus to chromosome 22.
|
8055325 |
1993 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The identification of the gene defective in APECED should facilitate the genetic diagnosis and potential treatment of the disease and further enhance our general understanding of the mechanisms underlying autoimmune diseases.
|
9398839 |
1997 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Autoimmune polyglandular syndrome type 1 [APS-1] comprises multiple organ-specific autoimmunities such as acquired hypoparathyroidism and autoimmune Addison's disease, and a predisposition to certain infections such as chronic mucocutaneous candidiasis.
|
9650097 |
1998 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
In addition, the polymorphisms presented provide the tools for investigation of the involvement of AIRE in other autoimmune diseases, particularly those affecting the endocrine system.
|
9717837 |
1998 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Given the carrier frequency of R139X in the Sardinian population, AIRE may be implicated in the pathogenesis of other autoimmune diseases in the Sardinian population, particularly those affecting the endocrine system.
|
9856486 |
1998 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
In the future, functional analysis of the AIRE protein both in vitro and in vivo will provide valuable insight not only into the molecular pathogenesis of APECED but also into the aetiology of autoimmunity in general.
|
9735375 |
1998 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Autoimmune polyendocrinopathy syndrome type 1 (APS-1; MIM# 240300) is a rare autosomal recessively inherited disease characterised by destructive autoimmune diseases of endocrine glands.
|
9888391 |
1999 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Cloning of the APECED gene provides new insight into human autoimmunity.
|
10344583 |
1999 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the first multiple autoimmune disease that has been shown to be caused by mutations of a single gene named autoimmune regulator (AIRE).
|
10946904 |
2000 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The two studied AIRE-1 mutations are so rare in the general population that they can not contribute to susceptibility for the more common isolated autoimmune disorders.
|
11298085 |
2001 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder that results in several autoimmune diseases due to the mutations in the AIRE (autoimmune regulator) gene.
|
11524733 |
2001 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The recent characterization of AIRE knockout mice with similar immune pathological findings compared to the human setting will help to elucidate endocrine autoimmunity.
|
12398240 |
2002 |
|
Autoimmune Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Humans expressing a defective form of the transcription factor AIRE (autoimmune regulator) develop multiorgan autoimmune disease.
|
12376594 |
2002 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessive disorder that results in several autoimmune diseases due to mutations in the AIRE (autoimmune regulator) gene.
|
12625412 |
2002 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In contrast to many other autoimmune diseases, APECED is associated with mutations of a single gene, designated autoimmune regulator (AIRE).
|
11976729 |
2002 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In contrast to many other autoimmune diseases, APECED is associated with mutations of a single gene, designated autoimmune regulator (AIRE).
|
12784192 |
2003 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Autoimmune regulator: from loss of function to autoimmunity.
|
12595897 |
2003 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; APS-1) is an autosomal recessive autoimmune disease, caused by mutations in the AIRE (autoimmune regulator) gene.
|
12503856 |
2003 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune regulator (AIRE) gene mutation is responsible for the development of autoimmune-polyendocrinopathy-candidiasis ectodermal dystrophy, an organ-specific autoimmune disease with monogenic autosomal recessive inheritance.
|
14734522 |
2004 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This allows the establishment of central tolerance and contributes to the prevention of organ-specific autoimmunity, as shown by findings in patients with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy (a disease caused by AIRE gene mutations) and in aire (-/-) mice.
|
15640689 |
2004 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus, AIRE provides a unique model for molecular studies of organ-specific autoimmunity.
|
14974083 |
2004 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Loss of central tolerance in genetically determined autoimmune diseases, e.g., autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is associated with defective expression by medullary thymic epithelial cells of AIRE, the transcription activator that induces thymic expression of tissue-specific antigens.
|
15696198 |
2005 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized by a variable combination of organ-specific autoimmune diseases.
|
16114041 |
2005 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
In mice, the absence of the analogous protein aire influences ectopic expression of peripheral tissue antigens in thymic medullary epithelial cells (MECs), resulting in the development of an autoimmune disorder similar to APECED and establishing aire/AIRE as an important player in the induction of central tolerance.
|
15790357 |
2005 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autoimmune regulator (AIRE) gene is a responsible gene for the rare autosomal recessive autoimmune disease: autoimmune-polyendocrinopathy-candidiasis ectodermal dystrophy (APECED).
|
15894121 |
2005 |