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|Title: ||Role of the phospatase LYP in T cell fuction: clinical, molecular and immunological correlates in a cohort of children affected by type 1 diabetes|
|Authors: ||Manca Bitti, Maria Luisa|
|Keywords: ||type 1 diabetes|
|Issue Date: ||14-Jun-2010 |
|Abstract: ||The PTPN22 gene encodes the protein tyrosin phosphatase LYP, which is an inhibitor of TCR signal transduction. Recently, a variant of PTPN22 (1858T) has been associated with the development and progression of Type 1 Diabetes (T1D). This variant is a single nucleotide change at residue 1858 from C to T, which result in a single amminoacid substitution from arginine to tryptophan at position 620 of the LYP protein. Recent studies showed that this LYP variant has an enhanced inhibitory effect on TCR signalling suggesting that the polymorphism confers a gain-of-function form to the protein.
The aim of this study was to further characterize the effect of PTPN22 C1858T polymorphism on T cell immune function in a cohort of T1D patients from continental Italy.
In the part I of the study we investigated the association between PTPN22 polymorphism and our cohort of T1D patients. We examined 216 T1D patients and 271 healthy subjects from Rome. We found a higher frequency of 1858T allele in T1D...|
|Description: ||22. ciclo|
|Appears in Collections:||Tesi di dottorato in medicina|
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