Now showing items 1-10 of 1807
Distribution of QPY and RAH haplotypes of granzyme B gene in distinct Brazilian populations
(SOC BRASILEIRA MEDICINA TROPICALBRASILIA, 2012)
Introduction: The cytolysis mediated by granules is one of the most important effector functions of cytotoxic T lymphocytes and natural killer cells. Recently, three single nucleotide polymorphisms (SNPs) were identified ...
HLA haplotypes in families with type 1 diabetes Haplotipos HLA en familias chilenas con diabetes tipo 1
Background: Inherited susceptibility to type 1 diabetes is partially determined by HLA genes. HLA-DQA1 and DQB1 alleles have been chosen as the most sensitive susceptibility markers. Family studies are a good method to ...
XV-2c and KM 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
(Sociedad de Biología de Chile, 2007)
Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are ...
HLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus
The HLA-G molecule presents immunomodulatory properties that might inhibit immune responses when interacting with specific Natural Killer and T cell receptors, such as KIR2DL4, ILT2 and ILT4. Thus, HLA-G might influence ...
Evaluation of computational methods for the reconstruction of HLA haplotypes
Human leukocyte antigen (HLA) haplotypes are frequently evaluated for population history inferences and association studies. However, the available typing techniques for the main HLA loci usually do not allow the determination ...
Functionality and opposite roles of two interleukin 4 haplotypes in immune cells
Cytokines expression can be influenced by polymorphisms in their respective coding genes. We associated the CTI/TTD haplotype (Hap-1) and TCI/CCI haplotype (Hap-2) in the IL4 gene formed by the -590, +33 and variable number ...
Functional VEGF haplotypes affect the susceptibility to hypertension
(Nature Publishing GroupLondonInglaterra, 2013)