Literature DB >> 18956205

[Relevance of the gene variant PTPN22 620W for rheumatology].

I Melchers1, P Ahnert.   

Abstract

PTPN22 620W is regarded as the second most important risk factor for type 1 diabetes and rheumatoid arthritis. Here we describe aspects of the molecular biology of the enzyme and its function, the geographical distribution of the 620W variant, as well as its importance in less frequent rheumatic diseases.

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Year:  2008        PMID： 18956205     DOI： 10.1007/s00393-008-0381-7

Source DB:  PubMed          Journal:  Z Rheumatol        ISSN： 0340-1855            Impact factor:   1.372


  8 in total

1.  Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis.

Authors:  Pravitt Gourh; Filemon K Tan; Shervin Assassi; Chul W Ahn; Terry A McNearney; Michael Fischbach; Frank C Arnett; Maureen D Mayes
Journal:  Arthritis Rheum       Date:  2006-12

2.  Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes.

Authors:  Lindsey A Criswell; Kirsten A Pfeiffer; Raymond F Lum; Bonnie Gonzales; Jill Novitzke; Marlena Kern; Kathy L Moser; Ann B Begovich; Victoria E H Carlton; Wentian Li; Annette T Lee; Ward Ortmann; Timothy W Behrens; Peter K Gregersen
Journal:  Am J Hum Genet       Date:  2005-02-17       Impact factor: 11.025

3.  Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis.

Authors:  Henrik Kallberg; Leonid Padyukov; Robert M Plenge; Johan Ronnelid; Peter K Gregersen; Annette H M van der Helm-van Mil; Rene E M Toes; Tom W Huizinga; Lars Klareskog; Lars Alfredsson
Journal:  Am J Hum Genet       Date:  2007-04-02       Impact factor: 11.025

4.  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

5.  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

6.  PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/memory T cells.

Authors:  Kiminori Hasegawa; Flavius Martin; Guangming Huang; Dan Tumas; Lauri Diehl; Andrew C Chan
Journal:  Science       Date:  2004-01-30       Impact factor: 47.728

Review 7.  Protein tyrosine phosphatases in autoimmunity.

Authors:  Torkel Vang; Ana V Miletic; Yutaka Arimura; Lutz Tautz; Robert C Rickert; Tomas Mustelin
Journal:  Annu Rev Immunol       Date:  2008       Impact factor: 28.527

8.  Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.

Authors:  Torkel Vang; Mauro Congia; Maria Doloretta Macis; Lucia Musumeci; Valeria Orrú; Patrizia Zavattari; Konstantina Nika; Lutz Tautz; Kjetil Taskén; Francesco Cucca; Tomas Mustelin; Nunzio Bottini
Journal:  Nat Genet       Date:  2005-11-06       Impact factor: 38.330
  8 in total

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