An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21
about
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlationExpression of the autoimmune regulator gene and its relevance to the mechanisms of central and peripheral toleranceThe autoimmune regulator (AIRE) is a DNA-binding proteinHuman pyridoxal kinase. cDNA cloning, expression, and modulation by ligands of the benzodiazepine receptorAn autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domainsOrganoid Models of Human Gastrointestinal Development and DiseaseMolecular Basis of Reduced Pyridoxine 5′-Phosphate Oxidase Catalytic Activity in Neonatal Epileptic Encephalopathy DisorderEnvironmental microbes and uveitis: is microbial exposure always bad?Positional cloning of the APECED geneMutation analyses of North American APS-1 patientsAn autosomal locus predisposing to deletions of mitochondrial DNAHigh-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISHAnti-interferon auto-antibodies in autoimmune polyendocrinopathy syndrome type 1.Cloning of the APECED gene provides new insight into human autoimmunity.Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure.Autoimmune hepatitis and its variant syndromes.The Finnish disease heritage: a personal look.APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility FactorsA common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1Autoimmune hepatitis after liver transplantation and other lessons of self-intolerance.Autoimmune hepatitis: a review of current diagnosis and treatment.Is disomic homozygosity at the APECED locus the cause of increased autoimmunity in Down's syndrome?Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypesFine mapping of the congenital chloride diarrhea gene by linkage disequilibriumAre moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish populationLysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.Genetic basis of autoimmunity.Unmodified histone H3K4 and DNA-dependent protein kinase recruit autoimmune regulator to target genes.Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.Genetic homogeneity of autoimmune polyglandular disease type I.Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.Genetic analysis of innate immunity in resistance to Candida albicans.Innate pathways to B-cell activation and tolerance.Autoimmune hepatitis as a unique form of an autoimmune liver disease: immunological aspects and clinical overview.Detection of candidal antigens in autoimmune polyglandular syndrome type IGenes mediating environment interactions in type 1 diabetes.AIRE regulates T-cell-independent B-cell responses through BAFF.Expression of AIRE in thymocytes and peripheral lymphocytes.Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism.How to find your way through the thymus: a practical guide for aspiring T cells.
P2860
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P2860
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21
description
1994 nî lūn-bûn
@nan
1994 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@ast
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@en
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@nl
type
label
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@ast
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@en
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@nl
prefLabel
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@ast
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@en
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@nl
P2093
P2860
P356
P1433
P1476
An autosomal locus causing aut ...... pe I assigned to chromosome 21
@en
P2093
J Aaltonen
J Perheentupa
L Peltonen
L Sandkuijl
P2860
P2888
P356
10.1038/NG0994-83
P407
P577
1994-09-01T00:00:00Z