(Q36006790)

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Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression

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scholarly article

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Europe PubMed Central

PMC publication ID

11 August 2017

Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

type-1 diabetes

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Megan Beems

7

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Constantin Polychronakos

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Constantin Polychronakos

13

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author name string

Samantha M Bonner

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Susan L Pietropaolo

2

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Europe PubMed Central

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11 August 2017

Yong Fan

3

1 reference

Europe PubMed Central

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11 August 2017

Yigang Chang

4

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Europe PubMed Central

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11 August 2017

Praveen Sethupathy

5

1 reference

Europe PubMed Central

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11 August 2017

Michael P Morran

6

1 reference

Europe PubMed Central

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11 August 2017

Nick Giannoukakis

8

1 reference

Europe PubMed Central

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11 August 2017

Giuliana Trucco

9

1 reference

Europe PubMed Central

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11 August 2017

Michael O Palumbo

10

1 reference

Europe PubMed Central

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11 August 2017

Michele Solimena

11

1 reference

Europe PubMed Central

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11 August 2017

Alberto Pugliese

12

1 reference

Europe PubMed Central

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11 August 2017

Massimo Trucco

14

1 reference

Europe PubMed Central

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11 August 2017

Massimo Pietropaolo

15

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11 August 2017

language of work or name

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publication date

24 March 2012

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Europe PubMed Central

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11 August 2017

Journal of Biological Chemistry

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Europe PubMed Central

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11 August 2017

287

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Europe PubMed Central

PMC publication ID

11 August 2017

21

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

17882-17893

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

The contribution of thymic stromal abnormalities to autoimmune disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

The transcription factor B-cell lymphoma (BCL)-6 modulates pancreatic {beta}-cell inflammatory responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Aire and T cell development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Aire's partners in the molecular control of immunological tolerance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Aire, master of many trades

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

UNC-108/RAB-2 and its effector RIC-19 are involved in dense core vesicle maturation in Caenorhabditis elegans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Thymus-specific deletion of insulin induces autoimmune diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Change you can B(cell)eive in: recent progress confirms a critical role for B cells in type 1 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Thymic microenvironments for T-cell repertoire formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Transcriptional regulation by AIRE: molecular mechanisms of central tolerance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Deletional tolerance mediated by extrathymic Aire-expressing cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

ICA69 is a novel Rab2 effector regulating ER-Golgi trafficking in insulinoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Lessons on immune tolerance from the monogenic disease APS1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Alternative splicing of G6PC2, the gene coding for the islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP), results in differential expression in human thymus and spleen compared with pancreas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Prime role for an insulin epitope in the development of type 1 diabetes in NOD mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Islet cell autoantigen of 69 kDa is an arfaptin-related protein associated with the Golgi complex of insulinoma INS-1 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Projection of an immunological self shadow within the thymus by the aire protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

The autoimmune regulator (AIRE) is a DNA-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Self-antigen-presenting cells expressing diabetes-associated autoantigens exist in both thymus and peripheral lymphoid organs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

The diabetes autoantigen ICA69 and its Caenorhabditis elegans homologue, ric-19, are conserved regulators of neuroendocrine secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Positional cloning of the APECED gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Gene expression of islet cell antigen p69 in human, mouse, and rat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Islet cell autoantigen 69 kD (ICA69). Molecular cloning and characterization of a novel diabetes-associated autoantigen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

ICA1 encoding p69, a protein linked to the development of type 1 diabetes, maps to human chromosome 7p22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

T-cell tolerance toward a transgenic beta-cell antigen and transcription of endogenous pancreatic genes in thymus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Autoantibodies to the islet antigen ICA69 occur in IDDM and in rheumatoid arthritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

2 October 2017

Transcriptional regulation of protein complexes and biological pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

11 July 2018

The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

11 July 2018

Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

11 July 2018

I region-restricted antigen presentation by B cell–B lymphoma hybridomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

11 July 2018

A gentle fixation and permeabilization method for combined cell surface and intracellular staining with improved precision in DNA quantification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

11 July 2018

Peripheral-antigen-expressing cells in thymic medulla: factors in self-tolerance and autoimmunity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319020

21 January 2018

Reduced thymic expression of islet antigen contributes to loss of self-tolerance.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319020

21 January 2018

A specific anti-Aire antibody reveals aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319020

21 January 2018

Autoantibodies to the islet antigen ICA 69 occur in IDDM and in rheumatoid arthritis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319020

21 January 2018

Genotypic and phenotypic characterization of six new recombinant congenic strains derived from NOD/Shi and CBA/J genomes.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319020

21 January 2018

Class III alleles at the insulin VNTR polymorphism are associated with regulatory T-cell responses to proinsulin epitopes in HLA-DR4, DQ8 individuals

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319020

21 January 2018

B lymphocyte depletion by CD20 monoclonal antibody prevents diabetes in nonobese diabetic mice despite isotype-specific differences in Fc gamma R effector functions.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319020

21 January 2018

Persistent T cell anergy in human type 1 diabetes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366781

23 September 2018

Divergence between Genetic Determinants of IGF2 Transcription Levels in Leukocytes and of IDDM2-Encoded Susceptibility to Type 1 Diabetes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319020

21 January 2018

Rituximab, B-Lymphocyte Depletion, and Preservation of Beta-Cell Function

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.319020

21 January 2018

Peptide dose, MHC affinity, and target self-antigen expression are critical for effective immunotherapy of nonobese diabetic mouse prediabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Class III alleles of the variable number of tandem repeat insulin polymorphism associated with silencing of thymic insulin predispose to type 1 diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that a peptide spanning the B-C junction of proinsulin is an early Autoantigen epitope in the pathogenesis of type 1 diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HLA-associated inverse correlation between T cell and antibody responsiveness to islet autoantigen in recent-onset insulin-dependent diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of self-tolerance to ICA69 in nonobese diabetic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Divergence between genetic determinants of IGF2 transcription levels in leukocytes and of IDDM2-encoded susceptibility to type 1 diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insulin alleles and autoimmune regulator (AIRE) gene expression both influence insulin expression in the thymus

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of proinsulin-producing medullary thymic epithelial cell clones

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deviation of islet autoreactivity to cryptic epitopes protects NOD mice from diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M111.319020

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

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