Browsing Human Genetics and Molecular Medicine-Research Publications by Submit Date
Now showing items 1-20 of 256
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Oxidative stress and inflammation in cardiovascular diseases: Two sides of the same coin
(Springer India, 2015)Globally, the major cause of long- term disability and death is an ?epidemiologic transition? from infectious diseases and malnutrition complications to non-communicable chronic diseases like cardiovascular disease (CVD), ... -
Structural insights of cyclin dependent kinases: Implications in design of selective inhibitors
(Elsevier Masson SAS, 2017)There are around 20 Cyclin-dependent kinases (CDKs) known till date, and various research groups have reported their role in different types of cancer. The X-ray structures of some CDKs especially CDK2 was exploited in the ... -
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 ... -
1-Acetyl-3,5-diaryl-4,5-dihydro(1H)pyrazoles: Exhibiting anticancer activity through intracellular ROS scavenging and the mitochondria-dependent death pathway
(Wiley-VCH Verlag, 2014)A series of 17 analogs of 1-acetyl-4,5-dihydro(1H)pyrazoles (JP-1 to JP-17) bearing two aromatic rings at positions 3 and 5, either of which ought to be heterocyclic, were synthesized and evaluated for their anti-proliferative ... -
Primordial dwarfism: overview of clinical and genetic aspects
(Springer Verlag, 2016)Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver?Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier?Gorlin Syndrome. This genetic disorder ... -
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 ... -
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 ... -
Editorial: Signal Transduction Inhibitors as Promising Anticancer Agents
(Hindawi, 2015)Cancer is a group of diseases sharing common features like unrestrictive growth, metastasis, and angiogenesis; however the basic signal transduction pathways are deregulated to such an extent that every cancer case itself ... -
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 ... -
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 ... -
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 ... -
P47 phox2/2 Mice Are Compromised in Expansion and Activation of CD8 + T Cells and Susceptible to Trypanosoma cruzi Infection
(Public Library of Science (PLOS), 2014)Macrophage activation of NAD(P)H oxidase (NOX2) and reactive oxygen species (ROS) is suggested to kill Trypanosoma cruzi that causes Chagas disease. However, the role of NOX2 in generation of protective immunity and whether ... -
Oxidative Stress Events and Neuronal Dysfunction in Alzheimer’s Disease: Focus on APE1/Ref-1-Mediated Survival Strategies
(Springer, 2014)Alzheimer’s disease (AD) is an important public health problem which affects millions of people worldwide. The major pathological hallmarks associated with AD are the accumulation of amyloid beta (Aβ) in senile plaques and ... -
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 ... -
TcI isolates of Trypanosoma cruzi exploit the antioxidant network for enhanced intracellular survival in macrophages and virulence in mice
(American Society for Microbiology, 2016)Trypanosoma cruzi species is categorized into six discrete typing units (TcI to TcVI) of which TcI is most abundantly noted in the sylvatic transmission cycle and considered the major cause of human disease. In our study, ... -
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. ... -
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 ... -
Synthesis of imine-pyrazolopyrimidinones and their mechanistic interventions on anticancer activity
(2013)Design, synthesis and anticancer activity of a series of imine-pyrazolopyrimidinones is reported for the first time. Compounds 9d, 9n and 9o in the series show encouraging in vitro anticancer activity with low micromolar ... -
Serum Albumin Levels in Breast Cancer: Correlation with Overall Survival
(SciTechnol, 2017)Introduction: Albumin in an important biomarker that indicates malnutrition as well as inflammation. The aim of the study was to evaluate the albumin levels in breast cancer patients and its association with overall survival ...