Literature DB >> 22841349

A functional framework for interpretation of genetic associations in T1D.

Gerald T Nepom1, Jane H Buckner.   

Abstract

Susceptibility to type 1 diabetes is attributable to genes that link disease progression to distinct steps in immune activation, expansion, and regulation. Recent studies illustrate examples of disease-associated variants that function in multiple cell types and independent pathways, some that impact different steps of a single mechanistic pathway, and some that are functionally interactive for deterministic events in setting thresholds for immune response.
Copyright © 2012 Elsevier Ltd. All rights reserved.

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Year:  2012        PMID： 22841349      PMCID： PMC4260931          DOI： 10.1016/j.coi.2012.07.003

Source DB:  PubMed          Journal:  Curr Opin Immunol        ISSN： 0952-7915            Impact factor:   7.486


  45 in total

1.  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.

Authors:  A Pugliese; M Zeller; A Fernandez; L J Zalcberg; R J Bartlett; C Ricordi; M Pietropaolo; G S Eisenbarth; S T Bennett; D D Patel
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

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

Authors:  P Vafiadis; S T Bennett; J A Todd; J Nadeau; R Grabs; C G Goodyer; S Wickramasinghe; E Colle; C Polychronakos
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

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

Authors:  Mark S Anderson; Emily S Venanzi; Ludger Klein; Zhibin Chen; Stuart P Berzins; Shannon J Turley; Harald von Boehmer; Roderick Bronson; Andrée Dierich; Christophe Benoist; Diane Mathis
Journal:  Science       Date:  2002-10-10       Impact factor: 47.728

4.  HLA DQ beta 3.2 identifies subtypes of DR4+ haplotypes permissive for IDDM.

Authors:  D M Robinson; S Holbeck; J Palmer; G T Nepom
Journal:  Genet Epidemiol       Date:  1989       Impact factor: 2.135

Review 5.  Molecular basis for HLA-DQ associations with IDDM.

Authors:  G T Nepom; W W Kwok
Journal:  Diabetes       Date:  1998-08       Impact factor: 9.461

6.  Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.

Authors:  Chieko Kyogoku; Carl D Langefeld; Ward A Ortmann; Annette Lee; Scott Selby; Victoria E H Carlton; Monica Chang; Paula Ramos; Emily C Baechler; Franak M Batliwalla; Jill Novitzke; Adrienne H Williams; Clarence Gillett; Peter Rodine; Robert R Graham; Kristin G Ardlie; Patrick M Gaffney; Kathy L Moser; Michelle Petri; Ann B Begovich; Peter K Gregersen; Timothy W Behrens
Journal:  Am J Hum Genet       Date:  2004-07-23       Impact factor: 11.025

7.  A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.

Authors:  Nunzio Bottini; Lucia Musumeci; Andres Alonso; Souad Rahmouni; Konstantina Nika; Masoud Rostamkhani; James MacMurray; Gian Franco Meloni; Paola Lucarelli; Maurizio Pellecchia; George S Eisenbarth; David Comings; Tomas Mustelin
Journal:  Nat Genet       Date:  2004-03-07       Impact factor: 38.330

8.  A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.

Authors:  Ann B Begovich; Victoria E H Carlton; Lee A Honigberg; Steven J Schrodi; Anand P Chokkalingam; Heather C Alexander; Kristin G Ardlie; Qiqing Huang; Ashley M Smith; Jill M Spoerke; Marion T Conn; Monica Chang; Sheng-Yung P Chang; Randall K Saiki; Joseph J Catanese; Diane U Leong; Veronica E Garcia; Linda B McAllister; Douglas A Jeffery; Annette T Lee; Franak Batliwalla; Elaine Remmers; Lindsey A Criswell; Michael F Seldin; Daniel L Kastner; Christopher I Amos; John J Sninsky; Peter K Gregersen
Journal:  Am J Hum Genet       Date:  2004-06-18       Impact factor: 11.025

9.  IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunity.

Authors:  M Walter; E Albert; M Conrad; E Keller; M Hummel; K Ferber; B J Barratt; J A Todd; A-G Ziegler; E Bonifacio
Journal:  Diabetologia       Date:  2003-05-16       Impact factor: 10.122

10.  Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus.

Authors:  S T Bennett; A M Lucassen; S C Gough; E E Powell; D E Undlien; L E Pritchard; M E Merriman; Y Kawaguchi; M J Dronsfield; F Pociot
Journal:  Nat Genet       Date:  1995-03       Impact factor: 38.330
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  3 in total

Review 1.  Genetic and epigenetic influences on the loss of tolerance in autoimmunity.

Authors:  Peng Zhang; Qianjin Lu
Journal:  Cell Mol Immunol       Date:  2018-03-05       Impact factor: 11.530

2.  Deficiency of immunoregulatory indoleamine 2,3-dioxygenase 1in juvenile diabetes.

Authors:  Ciriana Orabona; Giada Mondanelli; Maria T Pallotta; Agostinho Carvalho; Elisa Albini; Francesca Fallarino; Carmine Vacca; Claudia Volpi; Maria L Belladonna; Maria G Berioli; Giulia Ceccarini; Susanna Mr Esposito; Raffaella Scattoni; Alberto Verrotti; Alessandra Ferretti; Giovanni De Giorgi; Sonia Toni; Marco Cappa; Maria C Matteoli; Roberta Bianchi; Davide Matino; Alberta Iacono; Matteo Puccetti; Cristina Cunha; Silvio Bicciato; Cinzia Antognelli; Vincenzo N Talesa; Lucienne Chatenoud; Dietmar Fuchs; Luc Pilotte; Benoît Van den Eynde; Manuel C Lemos; Luigina Romani; Paolo Puccetti; Ursula Grohmann
Journal:  JCI Insight       Date:  2018-03-22

Review 3.  Solving the puzzle of autoimmunity: critical questions.

Authors:  Dawn E Smilek; E William St Clair
Journal:  F1000Prime Rep       Date:  2015-02-03
  3 in total

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