Dysregulation of exosomal miRNAs and their related genes in head and neck cancer patients.

The present study aimed to figure out the potential role of exosomal microRNAs, and their targeted genes in HNC detection/diagnosis. In the present study, exosomes were extracted from the serum samples of 400 HNC patients and 400 healthy controls. Exosomes were characterized using TEM, NTA, TEM-immunogold labeling and ELISA.

Exploring homologous recombination repair and base excision repair pathway genes for possible diagnostic markers in hematologic malignancies.

Hematologic malignancies (HMs) are a collection of malignant transformations, originating from the cells in the bone marrow and lymphoid organs. HMs comprise three main types; leukemia, lymphoma, and multiple myeloma. Globally, HMS accounts for approximately 10% of newly diagnosed cancer.

Expression deregulation of genes related to DNA repair and lead toxicity in occupationally exposed industrial workers.

Objective: Globally millions of people working in various industries and are exposed to different toxins which may affect their genetic stability and DNA integrity. Present study was designed to estimate the expression variation of genes related to DNA repair (XRCC1, PARP1) and lead toxicity (ALAD) in exposed industrial workers.

Methods: About 200 blood samples were collected from workers of brick kiln, welding, furniture and paint industry (50/industry) along with age and gender matched controls.

Role of exosomal / and in brain tumor diagnosis.

The current study was designed to evaluate the diagnostic significance of the exosomal miRNAs and and the gene in brain tumor patients versus controls. Exosomes were extracted from the serum samples of 400 brain tumor patients and 400 healthy controls. The exosomes were characterized by scanning electron microscopy, dynamic light scattering and ELISA.

Expression variations of DNA damage response genes ATM and ATR in blood cancer patients.

Hematological malignancies (HM) constitute a variety of cancers originating in blood, bone marrow (BM), and lymphatic systems. During the last two decades, the incidence of HM has dramatically increased worldwide. The etiology of HM is still debatable.

Oncometabolic role of mitochondrial sirtuins in glioma patients.

Mitochondrial sirtuins have diverse role specifically in aging, metabolism and cancer. In cancer, these sirtuins play dichotomous role as tumor suppressor and promoter. Previous studies have reported the involvement of sirtuins in different cancers.

Role of genetic variations of DNA damage response pathway genes and heat-shock proteins in increased head and neck cancer risk.

The present study was designed to evaluate the role of DNA damage response pathway genes and heat-shock proteins in head and neck cancer (HNC) risk. For this purpose, two study cohorts were used. Cohort 1 (blood samples of 250 HNC patients and 250 controls) was used for polymorphism screening of selected genes using tetra-primer amplification refractory mutation system-polymerase chain (Tetra-ARMS PCR).

Fyn and Lyn gene polymorphisms impact the risk of thyroid cancer.

Thyroid cancer is the most common malignancy of the endocrine glands, and during last couple of decades, its incidence has risen alarmingly, across the globe. Etiology of thyroid cancer is still debatable. There are a few worth mentioning risk factors which contribute to initiation of abnormalities in thyroid gland leading to cancer.

Role of gene in molecular classification and prognosis of gastric cancer using immunohistochemistry and LORD-Q assay.

The aim of the current study was to assess the prognostic value of the  gene in the DNA damage response pathway in gastric cancer (GC). Expression levels of the were measured in 220 GC tumor tissues and adjacent healthy/noncancerous tissues using real-time PCR and immunohistochemical staining. Genomic instability in GC patients was measured using the long-run real-time PCR technique for DNA-damage quantification assay and comet assay.

Genetic interactions of mitochondrial sirtuins in brain tumorigenesis.

The present study was designed to understand the role of expression variations of mitochondrial imported sirtuins in brain tumorigenesis. The expression levels of mitochondrial imported sirtuins were further analyzed for biomarker potential. Samples from 200 brain tumors and 200 healthy control tissues were used for expression analysis using quantitative PCR and for DNA damage using LORD-Q analysis.

Mitochondrial sirtuins genetic variations and gastric cancer risk: Evidence from retrospective observational study.

Aims: The purpose of the present study was to analyze the role of selected polymorphisms of SIRT3 and SIRT5 in gastric carcinogenesis.

Methods: For this study, 500 blood samples of GC patients and 500 blood samples of healthy individuals were collected. Six selected polymorphisms of mitochondrial sirtuins were analyzed for analysis using Tetra-Arms PCR followed by DNA sequencing.

Deregulation of mitochondrial sirtuins and OGG1-2a acts as a prognostic and diagnostic biomarker in leukemia.

The present study was planned to explore the expression variations of mitochondrial sirtuins and the mitochondrial DNA repair enzyme in leukemia patients. Oxidative stress and deacetylation levels of leukemia patients were measured in the present study. A total of 200 leukemia patients along with 200 healthy controls were evaluated using quantitative PCR, 8OXOG assay and deacetylation assay.

Polymorphism in miRNA target sites of and ring complex influences expression of CEP genes and favors tumorigenesis in glioma.

The present study was designed to screen the genetic polymorphisms and expression profiling of and genes in brain tumor patients. The amplification refractory mutation system PCR technique (ARMS-PCR) was used for mutation analysis using 300 blood samples of brain tumor patients and 300 overtly healthy controls. For expression analysis, 150 brain tumor tissue samples along with adjacent uninvolved/normal tissues (controls) were collected.

Role of Vitamin D deficiency and mRNA expression of VDR and RXR in haematological cancers.

Vitamin D has a crucial role in cancer control and prevention. For its activity, VDR (vitamin D receptor) and its heterodimer RXR (Retinoid X receptor) are equally important in the cell. This ligand (vitamin D) and receptors (VDR-RXR) complex together triggers downstream DNA damage response in the cell and thus counters cancer in blood.

Increased expression is significantly associated with breast cancer progression, metastasis and poor survival.

plays a key role as a transcriptional coactivator in the Hippo pathway. Based on conflicting reports regarding function in cancer, this study discerned its role in breast carcinogenesis. First, a systematic review of salient breast cancer studies targeting YAP1 dysregulation was performed.

Neural Differentiation of Mouse Embryonic Stem Cells-An Approach to Profile DNA Methylation of Reprogramming Factor Sox2-SRR2.

Sox2 is one of the core transcription factors maintaining the embryonic stem cells (ES) pluripotency and, also indispensable for cellular reprogramming. However, limited data is available about the DNA methylation of pluripotency genes during lineage-specific differentiations. This study investigated the DNA methylation of Sox2 regulatory region 2 (SRR2) during directed differentiation of mouse ES into neural lineage.

Association between single nucleotide polymorphisms of DNA damage response pathway genes and increased risk in breast cancer.

We aimed to evaluate the role of selected single nucleotide polymorphisms of DNA damage response pathway genes in breast cancer (BC). In present study, 500 BC patients and 500 controls was used to estimate the frequency of single nucleotide polymorphisms of DNA damage response pathway genes. Tetra-amplification refractory mutation system-PCR technique was used for screening of the six selected polymorphisms.

Association of arsenic-related gene and antioxidant gene expression in industrial workers occupationally exposed to arsenic.

Increasing anthropogenic activities related to industrialization and exposure to different toxicants increases the health hazards of industrial workers. Arsenic (As) exposure induces DNA damage and generates reactive oxygen species, which may result in many disease phenotypes. Present study explores the expression variation of As 3 methyltransferase () and superoxide dismutase () genes in blood samples of industrial workers of different industries (brick kiln, paint, welding, pesticide, and furniture) using quantitative real-time polymerase chain reaction.

Genetic and expression variations of cell cycle pathway genes in brain tumor patients.

The present study was designed to determine the association between the genetic polymorphisms/expression variations of RB1 and CCND1 genes and brain tumor risk. For this purpose, 250 blood samples of brain tumor patients along with 250 controls (cohort I) and 96 brain tumor tissues (cohort II) with adjacent control section were collected. Mutation analysis of RB1 (rs137853294, rs121913300) and CCND1 (rs614367, rs498136) genes was performed using ARMS-PCR followed by sequencing, and expression analysis was performed using real-time PCR and immunohistochemistry.

Linkage disequilibrium and haplotype analysis of and genes in thyroid cancer.

This study was planned to examine the effects of single nucleotide polymorphism (SNPs) on the risk of thyroid cancer in 499 patients and 500 controls. Three SNPs of gene and three SNPs of gene were analyzed using Tetra-primer ARMS-PCR followed by sequencing. rs121913314 of gene genotype TT showed 32-fold increased risk of thyroid cancer and rs2305994 of genotypes TT and CT showed 2.

Association of intronic polymorphisms (rs1549339, rs13402242) and mRNA expression variations in PSMD1 gene in arsenic-exposed workers.

Ubiquitin-proteasome system (UPS) gene, PSMD1, is an important gene for neutralization of damaged and misfolded protein(s). The current study was designed to study the genetic and expression variations of PSMD1 gene as a consequence of arsenic exposure and its potential implications in arsenic induced diseases. In the present study, 250 blood samples of exposed industrial workers along with 250 controls were used.

Relationship of single nucleotide polymorphisms and haplotype interaction of mitochondrial unfolded protein response pathway genes with head and neck cancer.

In this study, we evaluated the effect of selected polymorphisms of mitochondrial unfolded protein response (UPR) pathway in 500 head and neck cancer (HNC) patients and 500 healthy controls from Pakistan. The experiments were conducted using tetra-ARMS PCR followed by DNA sequencing. Multivariate analysis showed that AA genotype of rs3782116 showed fivefold, GG genotype of rs6598072 approximately twofold and CC genotype of rs4946936 and TT genotype of rs12212067 showed twofold increased risk of HNC.

Modulation of brain tumor risk by genetic SNPs in PARP1gene: Hospital based case control study.

PARP-1 gene plays an essential part in base excision repair pathway and its functional variations result in several types of cancer. In this study we have explored the effect of genetic variations in PARP-1 gene in brain tumorigenesis. This case control study comprised of 500 brain tumor cases along with 500 healthy controls.