Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein
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Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlationSubcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domainThe TFIID components human TAF(II)140 and Drosophila BIP2 (TAF(II)155) are novel metazoan homologues of yeast TAF(II)47 containing a histone fold and a PHD fingerThe autoimmune regulator (AIRE) is a DNA-binding proteinDAXX is a new AIRE-interacting proteinThe von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expressionChromosomal clustering of genes controlled by the aire transcription factor.Targeting histone deacetylase complexes via KRAB-zinc finger proteins: the PHD and bromodomains of KAP-1 form a cooperative unit that recruits a novel isoform of the Mi-2alpha subunit of NuRDHypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future researchTranscriptional regulation by AIRE: molecular mechanisms of central toleranceAutoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunityType 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A "Rare" Manifestation in a "Rare" DiseaseThe Thymic Orchestration Involving Aire, miRNAs, and Cell-Cell Interactions during the Induction of Central ToleranceBreaking tolerance to thyroid antigens: changing concepts in thyroid autoimmunityAutoimmune polyendocrine syndrome type 1: case report and review of literatureThe solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylationAPECED mutations in the autoimmune regulator (AIRE) geneLack of age-associated LFA-1 up-regulation and impaired ICAM-1 binding in lymphocytes from patients with Down syndromeZygote arrest 1 (Zar1) is an evolutionarily conserved gene expressed in vertebrate ovariesSubcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)Anti-interferon auto-antibodies in autoimmune polyendocrinopathy syndrome type 1.Prediction of disease-related mutations affecting protein localization.AIRE deficiency in thymus of 2 patients with Omenn syndrome.PHD fingers: epigenetic effectors and potential drug targetsNew splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.Radiation leukemia virus common integration at the Kis2 locus: simultaneous overexpression of a novel noncoding RNA and of the proximal Phf6 geneRecent advances in the molecular genetics of congenital and acquired primary adrenocortical failure.Control of central and peripheral tolerance by Aire.APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility FactorsDatabase for the mutations of the Finnish disease heritage.A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.Mechanisms of liver injury relevant to pediatric hepatology.Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.Autoimmune regulator: from loss of function to autoimmunity.Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription.Fine mapping of a region on chromosome 21q21.11-q22.3 showing linkage to type 1 diabetesLoss of Aire-dependent thymic expression of a peripheral tissue antigen renders it a target of autoimmunityGenetic lesions in T-cell tolerance and thresholds for autoimmunity.AIRE and APECED: molecular insights into an autoimmune disease.
P2860
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P2860
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein
description
2000 nî lūn-bûn
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2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի փետրվարին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
@wuu
name
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@ast
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@en
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@nl
type
label
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@ast
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@en
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@nl
prefLabel
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@ast
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@en
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@nl
P2093
P2860
P3181
P356
P1476
Mutations in the AIRE gene: ef ...... s-ectodermal dystrophy protein
@en
P2093
J Aaltonen
J J Palvimo
J Perheentupa
L Peltonen
P2860
P304
P3181
P356
10.1086/302765
P407
P577
2000-02-01T00:00:00Z