Functional polymorphisms in <Emphasis Type="Italic">XRCC</Emphasis>-<Emphasis Type="Italic">1</Emphasis> and <Emphasis Type="Italic">APE</Emphasis>-<Emphasis Type="Italic">1</Emphasis> contribute to increased apoptosis and risk of ulcerative colitis

Objective  

The present study was designed to investigate the role of X-ray cross-complementing group 1 (XRCC1) and apurinic/apyrimidinic endonuclease 1 (APE1) polymorphisms in apoptosis and the risk of ulcerative colitis (UC).     

<Emphasis Type="Italic">In vivo</Emphasis> activity of <Emphasis Type="Italic">Sapindus saponaria</Emphasis> against azole-susceptible and -resistant human vaginal <Emphasis Type="Italic">Candida</Emphasis> species

Background  

Study of in vivo antifungal activity of the hydroalcoholic extract (HE) and n-BuOH extract (BUTE) of Sapindus saponaria against azole-susceptible and -resistant human vaginal Candida spp.     

Additive effects of <Emphasis Type="Italic">LPL</Emphasis>, <Emphasis Type="Italic">APOA5</Emphasis> and <Emphasis Type="Italic">APOE</Emphasis>variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

Background  

Hypertriglyceridemia (HTG) is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG) metabolism has been described, including LPL, APOA5 and APOE. The combined analysis of these polymorphisms could produce clinically meaningful complementary information.     

Associations between <Emphasis Type="Italic">ERAP1</Emphasis> polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis

Objective  

The aim of this study was to determine whether five polymorphisms of endoplasmic reticulum aminopeptidase 1 (ERAP1) confer susceptibility to ankylosing spondylitis (AS).     

<Emphasis Type="Italic">Matrix metalloproteinase-9</Emphasis>gene polymorphisms in nasal polyposis

Background  

Matrix metalloproteinase (MMP) is involved in the upper airway remodeling process. We hypothesized that genetic variants of the MMP-9 gene are associated with cases of chronic rhinosinusitis with nasal polyposis.     

Effect of <Emphasis Type="Italic">BRCA2</Emphasis> sequence variants predicted to disrupt exonic splice enhancers on <Emphasis Type="Italic">BRCA2</Emphasis>transcripts

Background  

Genetic screening of breast cancer patients and their families have identified a number of variants of unknown clinical significance in the breast cancer susceptibility genes, BRCA1 and BRCA2. Evaluation of such unclassified variants may be assisted by web-based bioinformatic prediction tools, although accurate prediction of aberrant splicing by unclassified variants affecting exonic splice enhancers (ESEs) remains a challenge.     

Genetic variation of <Emphasis Type="Italic">Glucose Transporter-1</Emphasis> (<Emphasis Type="Italic">GLUT1</Emphasis>) and albuminuria in 10,278 European Americans and African Americans: a case-control study in the Atherosclerosis Risk in Communities (ARIC) Study

Background  

Evidence suggests glucose transporter-1(GLUT1) genetic variation affects diabetic nephropathy and albuminuria. Our aim was to evaluate associations with albuminuria of six GLUT1 single nucleotide polymorphisms(SNPs), particularly XbaI and the previously associated Enhancer-2(Enh2) SNP.     

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the <Emphasis Type="Italic">MYBPC3</Emphasis>gene

Background  

Mutations in MYBPC3 encoding myosin binding protein C belong to the most frequent causes of hypertrophic cardiomyopathy (HCM) and may also lead to dilated cardiomyopathy (DCM). MYBPC3 mutations initially were considered to cause a benign form of HCM. The aim of this study was to examine the clinical outcome of patients and their relatives with 18 different MYBPC3 mutations.     

The occurrence of germline <Emphasis Type="Italic">BRCA1</Emphasis> and <Emphasis Type="Italic">BRCA2</Emphasis>sequence alterations in Slovenian population

Background  

The BRCA1 and BRCA2 mutation spectrum and mutation detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian cancer.     

<Emphasis Type="Italic">CYP3A4</Emphasis> and <Emphasis Type="Italic">CYP3A5</Emphasis>genotyping by Pyrosequencing

Background  

Human cytochrome P450 3A enzymes, particularly CYP3A4 and CYP3A5, play an important role in drug metabolism. CYP3A expression exhibits substantial interindividual variation, much of which may result from genetic variation. This study describes Pyrosequencing assays for key SNPs in CYP3A4 (CYP3A4*1B, CYP3A4*2, and CYP3A4*3) and CYP3A5 (CYP3A5*3C and CYP3A5*6).     

No association between polymorphisms of <Emphasis Type="Italic">WNT2</Emphasis>and schizophrenia in a Korean population

Background  

Wingless-type MMTV integration site family member 2 (WNT2) has a potentially important role in neuronal development; however, there has yet to be an investigation into the association between single nucleotide polymorphisms (SNPs) of WNT2 and schizophrenia. This study aimed to determine whether certain SNPs of WNT2 were associated with schizophrenia in a Korean population.     

Neutralization of <Emphasis Type="Italic">Neisseria meningitidis</Emphasis> outer membrane vesicles

Introduction  

We aimed to determine the neutralization of Neisseria meningitidis outer membrane vesicles (blebs) by humoral and cellular elements of whole blood.     

<Emphasis Type="Italic">E. coli</Emphasis> lipopolysaccharide attenuates adenosine A<Subscript>1</Subscript> receptor-mediated increase in plasma exudation from the hamster cheek pouch

Objective and design  

To determine whether exposure to E. coli lipopolysaccharide (LPS) modulates adenosine A₁ receptor-induced increase in plasma exudation from the intact hamster cheek pouch microcirculation.     

Association of <Emphasis Type="Italic">CTLA4</Emphasis> Gene Polymorphism in Iranian Patients with Ankylosing Spondylitis

Introduction  

Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a costimulatory molecule expressed by activated T cells. This study was performed to investigate the allele and genotype frequencies of CTLA4 gene polymorphisms in Iranian patients with ankylosing spondylitis (AS).     

The association between genetic variants in <Emphasis Type="Italic">hMLH1</Emphasis> and <Emphasis Type="Italic">hMSH2</Emphasis> and the development of sporadic colorectal cancer in the Danish population

Background  

Mutations in the mismatch repair genes hMLH1 and hMSH2 predispose to hereditary non-polyposis colorectal cancer (HNPCC). Genetic screening of more than 350 Danish patients with colorectal cancer (CRC) has led to the identification of several new genetic variants (e.g. missense, silent and non-coding) in hMLH1 and hMSH2. The aim of the present study was to investigate the frequency of these variants in hMLH1 and hMSH2 in Danish patients with sporadic colorectal cancer and in the healthy background population. The purpose was to reveal if any of the common variants lead to increased susceptibility to colorectal cancer.     

Absence of mutations in <Emphasis Type="Italic">NR2E1</Emphasis> and <Emphasis Type="Italic">SNX3</Emphasis>in five patients with MMEP (microcephaly,microphthalmia, ectrodactyly,and prognathism) and related phenotypes

Background  

A disruption of sorting nexin 3 (SNX3) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no SNX3 mutations were identified in another sporadic case of MMEP, suggesting involvement of another gene. In this work, SNX3 was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene NR2E1 may underlie MMEP and related phenotypes.     

Biotransformation of ginsenosides Rb<Subscript>1</Subscript>, Rg<Subscript>3</Subscript> and Rh<Subscript>2</Subscript> in rat gastrointestinal tracts

Background  

Ginsenosides such as Rb₁, Rg₃ and Rh₂ are major bioactive components of Panax ginseng. This in vivo study investigates the metabolic pathways of ginsenosides Rb₁, Rg₃ and Rh₂ orally administered to rats.     

Interaction of functional <Emphasis Type="Italic">NPC1</Emphasis>gene Polymorphism with smoking on coronary heart disease

Background  

The protein of Niemann-pick type C1 gene (NPC1) is known to facilitate the egress of cholesterol and other lipids from late endosomes and lysosomes to other cellular compartments. This study aims to investigate whether the genetic variation in NPC1 is associated with risk of coronary heart disease (CHD) and to detect whether NPC1 might interact with smoking on the risk of CHD.     

Analysis of sequence variations in the suppressor of cytokine signaling (<Emphasis Type="Italic">SOCS</Emphasis>)<Emphasis Type="Italic">-3</Emphasis>gene in extremely obese children and adolescents

Background  

The suppressor of cytokine signaling (SOCS)-3 is a negative feedback regulator of cytokine signaling and also influences leptin signaling. We investigated association of variations in the coding sequence and promoter region of SOCS3 with extreme obesity in German children and adolescents.