Clinical Trials About "Genes versus Environment cytoplasmic BAP1 determines toxic response" - Page: 3 RSS

21:14 EDT 15th October 2018 | BioPortfolio

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Showing "Genes versus Environment cytoplasmic BAP1 determines toxic response" Clinical Trials 51–75 of 22,000+


Maternal KIR and Fetal HLA-C Genes in Recurrent Miscarriages

For implantation of developing conceptus, placental cells need to invade mother's uterus to access maternal blood supply in a control manner. We have found a combination of maternal immune genes (the KIR family) and fetal genes (HLA-C) strongly associated with pre-eclampsia where placenta does not implant adequately. The aim of this research is to investigate these two genes family in women suffering with recurrent miscarriages and find a possible link between them.

Evaluation of Toxic Metals, Trace Elements and Total Antioxidant Activity in Children With Recurrent Wheezing

The purpose of this study is to evaluate hair trace elements and toxic metals and plasma total antioxidant activity in children with recurrent wheezing and to evaluate whether these toxic metals and trace elements have any impact on serum cytokine levels.

Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME)

Syndromic obesity are rare forms of obesity (1% of cases), involving severe obesity and early to multi organ involvement (mental retardation, dysmorphic, sensorineural damage and / or endocrine). To date, the genetic defects are identified in only 5% of cases (Prader-Willi syndrome, Bardet-Biedl syndrome, mutation of leptin or its receptor, the proconvertase-1, proopiomelanocortin or SIM-1 and TRKB genes, high resolution karyotype or abnormal DNA chips, ...). Precocity and seve...

DNA Methylation and Autoimmune Thyroid Diseases

Hashimoto Thyroiditis (HT) and Graves Disease (GD) are known to be caused by abnormal immune response against self cells and tissues. Epigenetics is a novel field of biology studying the mechanisms by which the environment interacts with the genotype to produce a variety of phenotypes through modifications to chromatin that do not directly alter the DNA sequence. A very limited number of epigenetic studies have been published in patients with HT and GD so far. Therefore, the pu...

Retrospective Analysis of a Drug-Metabolizing Genotype in Cancer Patients and Correlation With Pharmacokinetic and Pharmacodynamics Data

This study is a retrospective one, exploring the hypothesis that a person's genotypic makeup may be associated with a clinical response or toxic effect to a drug. Genetic polymorphisms, that is, states of being able to assume different forms, that are in drug-metabolizing enzymes, transporters, and receptors may affect a patient's response to drug therapy. To date, there have been limited studies looking at a drug-metabolizing genotype (genetic makeup) or phenotype (result of ...

Genetic Determinants of Warfarin Anticoagulation Effect

The response to warfarin varies greatly among individuals. Some of this variability can be ascribed to genetic polymorphisms in the gene encoding for CYP2C9, the enzyme mediating the metabolism of S warfarin. In addition genetic polymorphism in other genes (i.e. VKORC1, factor VII) have been shown to account for some of the variability in the response to warfarin irrespective of CYP2C9.The present study has several segments: 1. Evaluation of the relationship between genetic ...

Molecular Epidemiology of Parkinson's Disease

The aim of this research is to discover genes which modify risk for Parkinson's disease. The study includes 800 patients with Parkinson's disease, and their estimated 1,222 available siblings. Common variations of at least 9 genes will be studied, including genes associated with personality, substance use, and anxiety and depression.

A Phase I Trial of APL 400-003 Vaccine: Safety and Immune Response Evaluations of Multiple Injections at Escalating Doses in Asymptomatic HIV-Infected Patients

To evaluate safety and immune response in HIV-infected patients treated with multiple injections of APL 400-003 vaccine. PER 2/27/96 AMENDMENT: To evaluate the safety of the vaccine when administered via the Biojector 2000 Needle-Free Injection Management System. Facilitated DNA inoculation, a new type of DNA vaccine, involves direct injection of non-infectious HIV genes into a patient's muscle, along with agents that promote uptake of the genes into host cells. Host ce...

Genetics of Primary Ciliary Dyskinesia

This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD). The study aims to show that about 70% of PCD patients have biallelic mutations in one of these genes. This project will enroll patients who have already had a clinical evaluation, and have clinical features consistent with PCD.

Systemic Inflammation in Chronic Obstructive Pulmonary Disease (COPD)

COPD is ranked number 3 by the WHO list of important diseases worldwide and is the only disease with increasing mortality. The pathogenesis of cigarette smoke-induced COPD is obscure, therefore more insight is needed to design effective anti-inflammatory agents. Recently it has become clear that cigarette smoke-induced inflammation is not only present in the lungs but also in the blood, and that this systemic inflammation has important consequences for the clinical expression o...

Early Detection of Prostate Cancer by FACS

Early detection of prostrate cancer and development of metastases. The research will attempt to match the SCM test (structuredness of the cytoplasmic matrix) in lymphocytes as an early cancer detection test using Florescent Activated Cell Sorting (FACS) as a replacement for the CellScan instrument. The test is based on measurement of cellular changes in response to the specific prostate antigen, PSA.

Utility of PharmacoGenomics for Reducing Adverse Drug Effects

UPGRADE aims to see whether data from Pharmacogenomic Testing (PGx) can help physicians manage patient medication regimens and assess if the testing has an effect on reducing adverse drug reactions, hospitalizations and emergency department visits. The way an individual processes a drug is in part determined by their genes, and there is known to be genetic variation between humans in the way drugs are metabolized. The study of the way genes affect a person's response to drug...

The Light- and Environment Project in Psychiatric Inpatient Care

The care environment influences both patients' experiences of care as well as staff's experiences of the work environment. A radical change in physical environment is planned at a psychiatric ward, aiming at creating a care environment that supports patients' opportunities for recovery from mental ill-health and to create a better and more attractive work environment for the staff. The rebuilding involves a new ward layout and new innovations such as light installations, a comf...

Evaluate PKs and Efficacy Assessment of Palifermin in Patients With Sarcoma

Primary: 1. To evaluate the preliminary efficacy of palifermin in reducing the incidence and severity of oral mucositis (OM) in patients with sarcoma receiving multicycle chemotherapy. 2. To evaluate the pharmacokinetics (PK) of palifermin when given pre chemotherapy. 3. To evaluate the safety profile of palifermin when combined with multicycle chemotherapy. Exploratory: 1. To evaluate the biologic effect of palifermin on oral mucos...

National CounterACT Initiative

The purpose of the study is to determine in vitro effects on mitochondrial function of selected chemical agents in human cells, and assess the capability of a cell-permeable succinate prodrug to attenuate toxic effects The project aims at repurposing this recent pharmaceutical discovery, currently being developed for treatment of toxic exposure, for an expanded indication to treat chemically induced mitochondrial toxicity.

Study of Genetic Risk Factors for Spina Bifida and Anencephaly

The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida (SB) and anencephaly (A), which includes identifying patients, defining the roles of certain genes, and studying gene-environment interactions.

Evaluating the Effect of Isotretinoin in Regulatory T-cell Function in Adverse Cutaneous Drug Eruptions (ACDEs): A Pilot Study

The purpose of this study is to determine whether isotretinoin is helpful in treating patients with an adverse cutaneous drug eruption known as toxic epidermal necrolysis (TEN).

Changes in Quality of Life Following Surgical Treatment of Benign Non-toxic Goiter

The aim is to investigate the influence of surgical treatment on benign non-toxic goiter on the disease specific quality of life evaluated 6 months after thyroid surgery. All investigations follow already scheduled treatments.

Pharmacogenomic Testing Of the Elderly To Reduce Morbidity

The goal of the POETRY Registry is to determine whether data from Pharmacogenomic (PGx) Testing for elderly and disabled patients can help physicians manage patient medication regimens and assess if the testing has an effect on reducing adverse drug events, hospitalizations, and emergency department visits. The way an individual processes or metabolizes a drug is in part determined by their genes, and there is known to be genetic variation from one human to another. The study ...

Phase III Clinical Trial of NPB-01 in Patients With Stevens-Johnson Syndrome/ Toxic Epidermal Necrolysis Unresponsive to Corticosteroids.

Patients diagnosed with Stevens-Johnson syndrome and Toxic Epidermal Necrolysis were confirmed based on the investigators national diagnostic criteria. Patients who meet all inclusion criteria and do not conflict with the exclusion criteria will receive NPB-01 (intravenous immunoglobulin) 400mg/kg/day for five consecutive days. Subsequently, efficacy of NPB-01 for therapy of Stevens-Johnson syndrome and Toxic Epidermal Necrolysis will be evaluated the disease evaluation score e...

Reliability and Validity of Turkish Version of PEM-CY

The Participation and Environment Measure for Children and Youth (PEM-CY) is the first instrument that combines parental assessment of children's participation in home, school, and community activities with qualities of each environment that are perceived to support or hinder participation. This combined format may help to clarify the relative impact of environmental factors (including the natural and built environment), compared to personal factors, on children's participation...

Study of Food Aversion in Patients With Anorexia Nervosa

This study uses a meal-challenge protocol to assess if patients with anorexia nervosa show a differential meal-induced metabolism and response compared to healthy controls, and determines how genetic variation influence this difference.

Investigating Cytokine Genes of Stem Cell Donors

This study seeks to investigate the factors that may account for the differences in the way a stem cell recipient s immune system works after a transplant. It will focus on cytokine genes, which give specific instructions to the genes and which may influence immune system response. More specifically, the purpose of the study is to find out how gene polymorphisms (gene variations among the population) affect the success or failure of a stem cell transplant. Study part...

A Pilot Study of PPX in Women With Metastatic Colorectal Cancer

This study uses the drug PPX (also called Xyotax and CT-2103) in women with advanced colorectal cancer. PPX is an experimental drug that has not been approved by the Food and Drug Administration (FDA). PPX has been shown in the laboratory and in studies in humans to cause some cancer cells to die and some tumors to shrink. Women in some studies with PPX have been shown to live longer than the men that receive the drug. Some studies in humans suggest that estrogen (a hormone ...

Chitinases and Transforming Growth Factor Beta (TGFB) in Human Asthma

The purpose of this study is to find out the roles of two specific gene families (the chitinase gene family and the TGFB family). We hypothesize that chitinases and TGFb pathway genes will be differentially expressed in the airways of non-asthmatic subjects and subjects with asthma. We further hypothesize that genetic variants in CHIT1, AMCase, and TGFb pathway genes that show associations with asthma and related phenotypes will change the expression and/or function of the prot...

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