Browsing Human Genetics and Molecular Medicine-Research Publications by Subject "Human"
Now showing items 1-10 of 24
-
Association of APOE (E2, E3 and E4) gene variants and lipid levels in ischemic stroke, its subtypes and hemorrhagic stroke in a South Indian population
(Elsevier Ireland Ltd, 2016)In the present study we evaluated the association of APOE (E2/E3/E4) polymorphism with ischemic stroke (n = 620), its subtypes and hemorrhagic stroke (n = 250) in a South Indian population from Telangana. The genotypes ... -
Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy
(Elsevier, 2014)The idiopathic generalized epilepsy (IGE) is a neurological disorder which accounts for approximately 30% of all epilepsy cases. Patients identified with IGE syndromes have pharmacoresponsive epilepsies without abnormal ... -
Association of serum homocysteine and hs-CRP with idiopathic generalised epilepsy and duration of antiepileptic drug therapy
(Journal of Clinical and Diagnostic Research, 2018)Introduction: Several human and experimental studies have revealed that chronic inflammation may play a vital role in neurodegenerative processes including epilepsy. There is accumulating evidence that inflammatory processes ... -
Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with type 2 diabetes mellitus in a Saudi population
(Humana Press Inc., 2014)Type 2 diabetes mellitus (T2DM) is a chronic degenerative disease, phenotypically and genetically heterogeneous, characterized by high levels of glucose and metabolic complications. Insulin receptor substrate 1 (IRS-1) ... -
Genetic signatures in ischemic stroke: Focus on aspirin resistance
(Bentham Science Publishers B.V., 2017)Background and Objective: Stroke is one of the leading causes of death. There has been compelling evidence that stroke has a genetic component. Genetic variants not only influence susceptibility to stroke but have also ... -
Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes
(Nature Publishing Group, 2016)Genome-wide association studies (GWAS) have identified more than 80 susceptibility loci for type 2 diabetes (T2D), but most of its heritability still remains to be elucidated. In this study, we conducted a meta-analysis ... -
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India
(American Diabetes Association Inc., 2013)We performed a genome-wide association study (GWAS) and a multistage meta-analysis of type 2 diabetes (T2D) in Punjabi Sikhs from India. Our discovery GWAS in 1,616 individuals (842 case subjects) was followed by in silico ... -
High expression of FBP17 in invasive breast cancer cells promotes invadopodia formation
(Humana Press Inc., 2018)Metastatic spread of the cancer is usually the consequence of the activation of signaling pathways that generate cell motility and tissue invasion. Metastasis involves the reorganization of cytoskeleton and cell shape for ... -
Identification of novel translocation between short arm of chromosome 4 and long arm of chromosome 6 in an infertile man using Interphase Chromosome Profiling (ICP)
(Blackwell Publishing Ltd, 2018)Conventional cytogenetics has always been a favourite to detect chromosomal aberrations. Carriers of chromosomal translocation are often phenotypically normal but are infertile. Couples are often advised to go for karyotyping, ... -
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. ...