Search
Now showing items 11-20 of 111
Apert’s syndrome: study by whole exome sequencing
(Elsevier, 2017)
In the present study we attempted a parent-child trio, whole exome sequencing (WES) approach to study Apert’s syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System ...
Immunomodulatory and antibacterial effects of cystatin 9 against Francisella tularensis
(2013)
Cystatin 9 (CST9) is a member of the type 2 cysteine protease inhibitor family, which has been shown to have immunomodulatory effects that restrain inflammation, but its functions against bacterial infections are unknown. ...
MnSOD tg Mice Control Myocardial Inflammatory and Oxidative Stress and Remodeling Responses Elicited in Chronic Chagas Disease
(American Heart Association, 2013)
Background
We utilized genetically modified mice equipped with a variable capacity to scavenge mitochondrial and cellular reactive oxygen species to investigate the pathological significance of oxidative stress in Chagas ...
Pharmacological and molecular approaches for the treatment of β- hemoglobin disorders
(Wiley, 2017)
β-hemoglobin disorders, such as β-thalassemia and sickle cell anemia are among the most prevalent inherited genetic disorders worldwide. These disorders are caused by mutations in the gene encoding hemoglobin-β (HBB), a ...
Mutational Analysis in Gaucher Disease: Implications in Genetic Counseling and Management
(SciTechnol, 2016)
Gaucher disease (GD) is the most common LSD worldwide. The disease is caused due to mutations in β-glucocerobrosidase (GBA) gene located on chromosome 1. The mutations results in the deficient activity of acid β-glucosidase ...
Role of genomic alterations in HER2 positive breast carcinoma: Focus on susceptibility and trastuzumab-therapy
(Bentham Science Publishers B.V., 2017)
Background: Breast cancer is the most frequently diagnosed life-threatening malignancy among women, across the globe. HER2 positive is a distinct breast cancer subtype, on account of its unique biology and physiological ...
CYP/PON genetic variations as determinant of organophosphate pesticides toxicity
(Springer India, 2017)
In the present scenario of increased accumulation of pesticides in the environment, it is important to understand its impact on human health. The focus is on gene?environment interaction, highlighting the consequences and ...
Innate Immune Responses and Antioxidant/Oxidant Imbalance Are Major Determinants of Human Chagas Disease
(Public Library of Science, 2013)
Background:We investigated the pathological and diagnostic role of selected markers of inflammation, oxidant/antioxidant status, and cellular injury in human Chagas disease.Methods:Seropositive/chagasic subjects characterized ...
Pesticide Induced Cytotoxicity Analysis in Human Cells
(Krishi Sanskriti Publications, 2017)
The aim of our work was to evaluate the effect of pesticides on cell survival, oxidative stress mechanism in hPBMC (human Peripheral Blood Mononucleated Cells) and lung cancer cells (A549 cell line). Cells were exposed to ...
APE1/Ref-1 as an emerging therapeutic target for various human diseases: Phytochemical modulation of its functions
(Nature Publishing Group, 2014)
Apurinic/apyrimidinic endonuclease 1 (APE1) is a multifunctional enzyme involved in the base excision repair (BER) pathway, which repairs oxidative base damage caused by endogenous and exogenous agents. APE1 acts as a ...