نتایج جستجو برای: BTNL2 gene
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Background and Aim: Sarcoidosis is a non-caseous granulomatous disease that can involve several organs such as lung, kidney, liver, heart and skin. In systemic sarcoidosis, skin lesions occur in 20-35% of patients. Cutaneous sarcoidosis with no systemic involvement was found in about 25% of patients. Mutation within Butyrophilin-like 2 (BTNL2) gene, rs2076530 was reported in systemic sarcoidosi...
OBJECTIVE The butyrophilin-like 2 (BTNL2) G16071A gene polymorphism has been implicated in the susceptibility to granulomatous diseases, but the results were inconclusive. The objective of the current study was to precisely explore the relationship between BTNL2 G16071A gene polymorphism and granulomatous disease susceptibility by the meta-analysis including false-positive report probability (F...
BACKGROUND Sarcoidosis is a polygenic immune disorder disease with predominant manifestations in the lung. BTNL2 gene polymorphisms were previously linked to susceptibility to sarcoidosis. Relationships between sarcoidosis and cancers have been suspected for a long time but little evidence has been reported until now, and recent works show a link between butyrophilin family proteins and anti tu...
Background: In 10-30% of the cases with sarcoidosis, skin lesions appear solely without any systemic signs or symptoms. BTNL2 gene, which is a member of the immunoglobulin gene super family and is associated with CD86 and CD80 co-stimulatory receptors, is identified to play an important role in the establishment of sarcoidosis. We aimed to evaluate the role of this gene in patients with skin sa...
BACKGROUND Butyrophilin-like 2 (BTNL2) rs2076530 gene polymorphism has been implicated in susceptibility to sarcoidosis. However, results from previous studies are not consistent. To assess the association of BTNL2 polymorphism and sarcoidosis susceptibility, a meta-analysis was performed. METHODS PubMed, Embase were searched for eligible case-control studies. Data were extracted and pooled o...
Naive T cell activation involves at least two signals from an APC, one through the TCR via interaction with peptide-MHC complexes and a second through ligation of CD28 with B7 ligands. Following activation, T cells upregulate a host of other membrane-bound costimulatory molecules that can either promote or inhibit further T cell maturation and proliferation. In some cases, it is necessary to at...
BACKGROUND Rare, inherited mutations account for 5% to 10% of all prostate cancer cases. However, to date, few causative mutations have been identified. METHODS To identify rare mutations for prostate cancer, we conducted whole-exome sequencing (WES) in multiple kindreds (n = 91) from 19 hereditary prostate cancer (HPC) families characterized by aggressive or early-onset phenotypes. Candidate...
Butyrophilin-like 2 (BTNL2) is a butyrophilin family member with homology to the B7 costimulatory molecules, polymorphisms of which have been recently associated through genetic analyses to sporadic inclusion body myositis and sarcoidosis. We have characterized the full structure, expression, and function of BTNL2. Structural analysis of BTNL2 shows a molecule with an extracellular region conta...
BACKGROUND The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated. RESULTS The study performed independent analyses of BTNL2 polymorphism, clinical phenotypes, and outcomes in familial vs. sporadic presentations in 256 sporadic and 207 familial cases from 14...
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