DEF6/IBP/SLAT is a specific guanine nucleotide exchange factor for the Rho GTPase Cdc42 and Rac1. DEF6 involved in T-cell receptor (TCR) signaling through its recruitment to immune synapse.1Fos C. Becart S. Canonigo Balancio A.J. Boehning D. Altman A. Association of EF-hand PH domains SLAT with IP₃ 1 promotes Ca2⁺ T cells.Sci Signal. 2014; 7: ra93Crossref PubMed Scopus (11) Google Scholar Def6-...

Nontuberculous mycobacteria (NTM) are ubiquitous in the environment and exist as an important cause of pulmonary infections in humans. Pulmonary involvement is the most common disease manifestation of NTM and the incidence of NTM is growing in North America. Susceptibility to NTM infection is incompletely understood; therefore preventative tools are not well defined. Treatment of pulmonary nont...

Polymorphisms have been identified in proto-oncogenes and tumor suppressor genes that predispose people to cancer. Recent evidence indicates that genomic imprinting, an epigenetic form of gene regulation that results in uniparental gene expression, can also function as a cancer predisposing event. Thus, cancer susceptibility is increased by both Mendelian inherited genetic and non-Mendelian inh...

Throughout much of the world, the incidence of non-tuberculous mycobacterial pulmonary infections in immunocompetent hosts is on the rise. These organisms are widespread in the natural environment; the explanation for what appears to be an increased susceptibility among human hosts is uncertain. Among more than 120 known species, the most common pathogenic isolate in the USA is Mycobacterium av...

BACKGROUND The recent genome-wide association studies (GWAS) in inflammatory bowel disease (IBD) suggest significant genetic overlap with complex mycobacterial diseases like tuberculosis or leprosy. TLR variants have previously been linked to susceptibility for mycobacterial diseases. Here we investigated the contribution to IBD risk of two TLR2 polymorphisms, the low-prevalence variant Arg753G...

Host genetic factors including major histocompatibility complex (MHC) polymorphisms influence both susceptibility to leprosy per se and also to leprosy type. Non-MHC genes may play an important role, but such genes remain undefined. The influence of two non-MHC candidate genes was assessed in a case-control study of Bengali leprosy patients from Calcutta. Recent studies have implicated variatio...

Parkinson’s Disease (PD), the second most frequent neurodegenerative disorder after Alzheimer’s disease (six million patients world-wide), is generally diagnosed after the sixth decade. It causes motor dysfunctions, such as bradykinesia, resting tremor, rigidity and postural instability, but also affects autonomic functions and cognition. PD results mainly from progressive degeneration of dopam...

Background Toll-like receptor 2 (TLR2) is critical in bringing up immune responses to mycobacterial infections. The mutations in TLR2 are known to confer susceptibility for severe infection with mycobacteria. TLR2 may diminish response to mycobacterial proteins and place individuals at risk of developing leprosy. We investigated the association of GT repeat polymorphism in intron2 of TLR2 gene ...