Browsing Human Genetics and Molecular Medicine-Research Publications by Submit Date
Now showing items 21-40 of 256
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Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients
(Humana Press Inc., 2018)In this study, we evaluated the incidence of pathogenic germline mutations in 30 breast cancer susceptibility genes in breast cancer patients. Our aim was to understand the involvement of the inherited mutations in these ... -
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, ... -
A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.
(Springer, 2018)BRCA2is the main susceptibility gene known to be involved in the pathogenesis of breast cancer. It plays an important role in maintaining the genome stability by homologous recombination through DNA double-strand breaks ... -
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 ... -
Genetic determinants in ischaemic stroke subtypes: Seven year findings and a review
(Elsevier, 2015)Stroke is a global health problem and a leading cause of disability worldwide. There have been numerable studies undertaking research on different aspects of ischaemic stroke employing various epidemiological, clinical and ... -
Association of Serum Trace Elements and Minerals with Genetic Generalized Epilepsy and Idiopathic Intractable Epilepsy
(Springer New York LLC, 2014)Certain minerals and trace elements are essential for the development of healthy nervous system. Altered serum levels of these elements may lead to the development of various diseases including epilepsy. The present study ... -
Association of ACE gene I/D polymorphism and ACE levels with hemorrhagic stroke: comparison with ischemic stroke
(Springer-Verlag Italia s.r.l., 2015)In the present study, we investigated the association of insertion/deletion polymorphism of ACE gene with genetic predisposition to hemorrhagic stroke and also determined the mean ACE activity levels in ischemic and ... -
Association of -1382A>G CCL11 gene variant with ischemic stroke, its subtypes and hemorrhagic stroke in a South Indian population
(Medknow Publications, 2014)Conclusion: The results of the present study show that the GG genotype is a significant risk factor for ischemic as well as hemorrhagic stroke. Further, the frequency of the GG genotype was observed to be higher in hemorrhagic ... -
E-selectin gene (S128R) polymorphism in hemorrhagic stroke: Comparison with ischemic stroke
(Elsevier Ireland Ltd, 2014)Increasing evidence suggests that genetic variation in inflammatory genes plays a pivotal role in pathogenesis of stroke. The aim of the present study was to evaluate the association of E-selectin S128R polymorphism with ... -
CRP Gene (1059G>C) Polymorphism and Its Plasma Levels in Ischemic Stroke and Hemorrhagic Stroke in a South Indian Population
(Springer New York LLC, 2014)In the present study, we evaluated the association of 1059G>C polymorphism in C-reactive protein (CRP) gene with the risk of ischemic and hemorrhagic strokes. We did not find a significant association of this polymorphism ... -
Genetic signatures in the treatment of stroke
(Bentham Science Publishers B.V., 2015)Stroke is the fourth leading cause of mortality and neurological disability. It is caused by an intricate interplay of environmental and genetic factors. Genes not only influence susceptibility to stroke but have also been ... -
Association of Xmn1 -158 γG variant with severity and HbF levels in β-thalassemia major and sickle cell anaemia
(Springer Netherlands, 2014)Haemoglobinopathies including ?-thalassemia and sickle cell anaemia (SCA) are considered to be classical monogenic diseases. There is considerable clinical variability between patients inheriting identical ?-globin mutations. ... -
Association between PDE4D gene and ischemic stroke: recent advancements
(Taylor and Francis Ltd, 2016)Stroke is a severe complication and a leading cause of death worldwide and genetic studies among different ethnicities has provided the basis for involvement of phosphodiesterase 4D (PDE4D) gene in cerebrovascular diseases. ... -
Epigenetic mechanisms in plants: An overview
(Springer India, 2015)Plant epigenetics has become one of the hottest topics of research not only as a subject of basic research but also as a possible new source of beneficial traits for plant breeding. In addition, epigenetic mechanisms are ...