Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human.
Conclusion: Most of the involved sSMC breakpoints could be characterized as a higher resolution than before. An unexpected result was that in 5/15 cases cryptic mosaicism was characterized. The latter is also to be considered to have potentially an influence on the clinical outcome in these so-called discontinuous sSMCs. Overall, the suitability of PeCR-FISH to characterize sSMCs was proven; the potential of this probe set to further delineate sizes of dosage insensitive pericentric regions is obvious but dependent on suited cases. Furthermore, discontinuous sSMCs can be identified by this approach and this new subtype of ...
Source: Current Genomics - April 4, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Detecting Chromosome Condensation Defects in Gulf War Illness Patients.
Conclusion: Various types of condensation defects have been observed in GWI patients. It is rather surprising that some GWI patients exhibited a high level of chromosomal condensation defects. Previously, the elevated frequency of DMFs was only observed in cancer patients. Since chromosome condensation can be linked to other types of chromosome aberrations, as well as cellular stress conditions, the detailed mechanism and clinical impact should be further studied, especially with increased sample size. PMID: 29606907 [PubMed] (Source: Current Genomics)
Source: Current Genomics - April 4, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Molecular Cytogenetic Analysis of One African and Five Asian Macaque Species Reveals Identical Karyotypes as in Mandrill.
Conclusion: Karyotypes of all seven studied species could be characterized in detail. Surprisingly, no evolutionary conserved differences were found among macaques, including mandrill. Between the seven here studied and phenotypically so different species we expected several via FISH detectable karyoypic and submicroscopic changes and were surprised to find none of them on a molecular cytogenetic level. Spatial separation, may explain the speciation and different evolution for some of them, like African M. sylvanus, Mandrillus sphinx and the South Asian macaques. However, for the partially or completely overlapping habitat...
Source: Current Genomics - April 4, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Early Stages of XY Sex Chromosomes Differentiation in the Fish Hoplias malabaricus (Characiformes, Erythrinidae) Revealed by DNA Repeats Accumulation.
Conclusion: The Y chromosome was clearly identified by an interstitial heterochromatic block on the short arms, primarily composed of microsatellite motifs and retrotransposons. Additionally, CGH also identified a male specific chromosome region in the same chromosomal location, implying that the accumulation of these repeats may have initiated the Y chromosome differentiation, as well as played a critical role towards the evolution and differentiation of sex chromosomes in various karyomorphs of this species. PMID: 29606909 [PubMed] (Source: Current Genomics)
Source: Current Genomics - April 4, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

A Postgenomic Perspective on Molecular Cytogenetics.
Conclusion: Throughout this synthesis, the genome theory of somatic cell evolution is highlighted in contrast to gene theory, which ignores the karyotype-mediated higher level of genetic information. Since "system inheritance" is defined by the genome context (gene content and genomic topology) while "parts inheritance" is defined by genes/epigenes, molecular cytogenetics and cytogenomics (which directly study genome structure, function, alteration and evolution) will play important roles in this postgenomic era. PMID: 29606910 [PubMed] (Source: Current Genomics)
Source: Current Genomics - April 4, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization.
Conclusion: This report underlines the usefulness of molecular cytogenetic technics in postnatal diagnosis. PMID: 29606911 [PubMed] (Source: Current Genomics)
Source: Current Genomics - April 4, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Editorial: Genomics and Functional Genomics of Stress-mediated Signaling in Plants: Volume II.
Authors: Sharma M, Pandey GK PMID: 29491727 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Transcriptome Analysis of ABA/JA-Dual Responsive Genes in Rice Shoot and Root.
Authors: Kim JA, Bhatnagar N, Kwon SJ, Min MK, Moon SJ, Yoon IS, Kwon TR, Kim ST, Kim BG Abstract The phytohormone abscisic acid (ABA) enables plants to adapt to adverse environmental conditions through the modulation of metabolic pathways and of growth and developmental programs. We used comparative microarray analysis to identify genes exhibiting ABA-dependent expression and other hormone-dependent expression among them in Oryza sativa shoot and root. We identified 854 genes as significantly up- or down-regulated in root or shoot under ABA treatment condition. Most of these genes had similar expression profiles i...
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Genome-wide Analysis of Alternative Splicing in An Inbred Cabbage (Brassica oleracea L.) Line 'HO' in Response to Heat Stress.
Conclusion: We identified 1,864 genes, including Heat shock transcription factor (Hsf) and heat shock protein (Hsp) genes, that exhibited>4-fold changes in expression upon exposure to HS. The enriched Gene Ontology (GO) terms of the 1,864 genes included 'response to stress/abiotic stimulus/chemical stimulus', among, which the genes most highly induced by HS encode small Hsps and Hsf proteins. The heat-induced genes also showed an increased number of AS events under HS conditions. In addi-tion, the distribution of AS types was altered under HS conditions, as the level of Intron Retention (IR) decreased, whereas other typ...
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Mapping the microRNA Expression Profiles in Glyoxalase Over-expressing Salinity Tolerant Rice.
In this study, the Next Generation Sequencing (NGS) was employed to profile miRNA expression levels from glyoxalase overexpressing transgenic lines. The associated targets of differentially expressed miRNAs were predicted and their functional annotation was carried out using Gene Ontology (GO) and KEGG Orthology (KO), which showed their involvement in several crucial biological pathways. The analysis of NGS datasets also identified other isoforms or isomiRs of selected miRNAs, which may have an active role in developing tolerance against salt stress. Different aspects of miRNA modifications were also studied in glyoxalase ...
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Impact of Glyphosate on the Rhizosphere Microbial Communities of An EPSPS-Transgenic Soybean Line ZUTS31 by Metagenome Sequencing.
Conclusion: Our present study indicated that the formulation of glyphosate-isopropylamine salt did not significantly affect the alpha and beta diversity of the rhizobacterial community of the soybean line ZUTS31, whereas it significantly influenced some functional genes involved in PGPT in the rhizosphere during the single growth season. PMID: 29491731 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

OsCBSCBSPB4 is a Two Cystathionine- β-Synthase Domain-containing Protein from Rice that Functions in Abiotic Stress Tolerance.
OsCBSCBSPB4 is a Two Cystathionine-β-Synthase Domain-containing Protein from Rice that Functions in Abiotic Stress Tolerance. Curr Genomics. 2018 Jan;19(1):50-59 Authors: Kumar R, Subba A, Kaur C, Ariyadasa TU, Sharan A, Pareek A, Sopory SK, Singla-Pareek SL Abstract Cystathionine β-synthase (CBS) domains have been identified in a wide range of proteins of unrelated functions such as, metabolic enzymes, kinases and channels, and usually occur as tandem re-peats, often in combination with other domains. In plants, CBS Domain-Containing Proteins (CDCPs) form a multi-gene family and only a few a...
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

A Salt Overly Sensitive Pathway Member from Brassica juncea BjSOS3 Can Functionally Complement ΔAtsos3 in Arabidopsis.
Conclusion: Taken together, these findings demonstrate that the B. juncea SOS3 (BjSOS3) protein is a functional ortholog of its arabidopsis counterpart and thus show a strong functional conservation of SOS pathway responsible for salt stress signalling between arabidopsis and Brassica species. PMID: 29491733 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.
Conclusion: The disease severity is similar among male and female patients. Our study extends the genotype-phenotype relationship between mutations in the GLA gene and clinical findings of FD, which may be helpful in the genetic counseling of patients with FD. PMID: 29491734 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Editorial:New Insights into the Genomes of Kinetoplastid Parasites.
Authors: De Pablos LM PMID: 29491735 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

High-throughput Methods for Dissection of Trypanosome Gene Regulatory Networks.
CONCLUSION: This review aims to give the reader an understanding of current trypanosome RNP research, highlighting the progress made using high-throughput approaches. PMID: 29491736 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Gene and Chromosomal Copy Number Variations as an Adaptive Mechanism Towards a Parasitic Lifestyle in Trypanosomatids.
Authors: Reis-Cunha JL, Valdivia HO, Bartholomeu DC Abstract Trypanosomatids are a group of kinetoplastid parasites including some of great public health importance, causing debilitating and life-long lasting diseases that affect more than 24 million people worldwide. Among the trypanosomatids, Trypanosoma cruzi, Trypanosoma brucei and species from the Leishmania genus are the most well studied parasites, due to their high prevalence in human infections. These parasites have an extreme genomic and phenotypic variability, with a massive expansion in the copy number of species-specific multigene families enrolled in ...
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Conservation and Variation in Strategies for DNA Replication of Kinetoplastid Nuclear Genomes.
Conclusion: Here we discuss what implications these emerging data may have for parasite and eukaryotic biology of DNA replication. PMID: 29491738 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Biology of Trypanosoma cruzi Retrotransposons: From an Enzymatic to a Structural Point of View.
Conclusion: We also discuss how the involvement of L1Tc and NARTc in the gene regulatory processes of these parasites could justify their domestication and long-term coexistence in these ancient organisms. PMID: 29491739 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Transcriptional Regulation of Telomeric Expression Sites and Antigenic Variation in Trypanosomes.
Conclusion: Here, we discuss 1) the molecular basis underlying transcription of telomeric ESs and VSG antigenic switching; 2) the current knowledge of VSG monoallelic expression; 3) the role of inositol phosphate pathway in the regulation of VSG expression and switching; and 4) the developmental regulation of Pol I transcription of procyclin and VSG genes. PMID: 29491740 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Introgression of the Kinetoplast DNA: An Unusual Evolutionary Journey in Trypanosoma cruzi.
Conclusion: Finally, I will discuss what we know - and what we don't - about the kDNA transference and inheritance in the context of sexual reproduction in this parasite. PMID: 29491741 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Epigenetic Regulation of Transcription in Trypanosomatid Protozoa.
Authors: Martínez-Calvillo S, Romero-Meza G, Vizuet-de-Rueda JC, Florencio-Martínez LE, Manning-Cela R, Nepomuceno-Mejía T Abstract The Trypanosomatid family includes flagellated parasites that cause fatal human diseases. Remarkably, protein-coding genes in these organisms are positioned in long tandem arrays that are transcribed polycistronically. However, the knowledge about regulation of transcription initiation and termination in trypanosomatids is scarce. The importance of epigenetic regulation in these processes has become evident in the last years, as distinctive histone modifications an...
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Leptomonas pyrrhocoris: Genomic insight into Parasite's Physiology.
Conclusion: We conclude that either the SCG enzymes are not active in this species (similarly to SCG5/7 in L. major), or they possess a different biochemical activity. PMID: 29491743 [PubMed] (Source: Current Genomics)
Source: Current Genomics - March 3, 2018 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Editorial: Genomics and Functional Genomics of Stress-mediated Signaling in Plants: Volume I.
Authors: Sharma M, Pandey GK PMID: 29204076 [PubMed] (Source: Current Genomics)
Source: Current Genomics - December 7, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

A Functional Genomic Perspective on Drought Signalling and its Crosstalk with Phytohormone-mediated Signalling Pathways in Plants.
Conclusion: This review thus summarizes the molecular mechanism of drought signalling and its crosstalk with various phytohormone signalling pathways implicated in abiotic stress response and tolerance. PMID: 29204077 [PubMed] (Source: Current Genomics)
Source: Current Genomics - December 7, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Transcription Factors and Their Roles in Signal Transduction in Plants under Abiotic Stresses.
Authors: Hoang XLT, Nhi DNH, Thu NBA, Thao NP, Tran LP Abstract In agricultural production, abiotic stresses are known as the main disturbance leading to negative impacts on crop performance. Research on elucidating plant defense mechanisms against the stresses at molecular level has been addressed for years in order to identify the major contributors in boosting the plant tolerance ability. From literature, numerous genes from different species, and from both functional and regulatory gene categories, have been suggested to be on the list of potential candidates for genetic engineering. Noticeably, enhancement of ...
Source: Current Genomics - December 7, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

An Overview of Signaling Regulons During Cold Stress Tolerance in Plants.
Authors: Pareek A, Khurana A, Sharma AK, Kumar R Abstract Plants, being sessile organisms, constantly withstand environmental fluctuations, including low-temperature, also referred as cold stress. Whereas cold poses serious challenges at both physiological and developmental levels to plants growing in tropical or sub-tropical regions, plants from temperate climatic regions can withstand chilling or freezing temperatures. Several cold inducible genes have already been isolated and used in transgenic approach to generate cold tolerant plants. The conventional breeding methods and marker assisted selection have helped...
Source: Current Genomics - December 7, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Genomics of Metal Stress-Mediated Signalling and Plant Adaptive Responses in Reference to Phytohormones.
Conclusion: This review sheds light on gene expressions involved in plant adaptive and defence responses during metal stress. It gives an insight of genomic approaches leading to identification and functional annotation of genes involved in phytohormone signal transduction and perception. Moreover, it also emphasizes on perception, signalling and cross-talks among various phytohormones and other signalling components viz., Reactive Oxygen Species (ROS) and Reactive Nitrogen Species (RNS). PMID: 29204080 [PubMed] (Source: Current Genomics)
Source: Current Genomics - December 7, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Recent Advances in Substrate Identification of Protein Kinases in Plants and Their Role in Stress Management.
Authors: Jha SK, Malik S, Sharma M, Pandey A, Pandey GK Abstract Protein phosphorylation-dephosphorylation is a well-known regulatory mechanism in biological systems and has become one of the significant means of protein function regulation, modulating most of the biological processes. Protein kinases play vital role in numerous cellular processes. Kinases transduce external signal into responses such as growth, immunity and stress tolerance through phosphorylation of their target proteins. In order to understand these cellular processes at the molecular level, one needs to be aware of the different substrates targ...
Source: Current Genomics - December 7, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Looking at Halophytic Adaptation to High Salinity Through Genomics Landscape.
Authors: Nikalje GC, Nikam TD, Suprasanna P Abstract Soil salinity is an important stress factor that limits plant growth and productivity. For a given plant species, it is critical to sense and respond to salt stimuli followed by activation of multitude of mechanisms for plants to survive. Halophytes, the wonders of saline soils, have demonstrated ability to withstand and reproduce in at least 200 mM NaCl concentration, which makes them an ideal system to study mechanism of salt adaptation for imparting salt tolerance in glycophytes. Halophytes and salt sensitive glycophytes adapt different defense strategies towa...
Source: Current Genomics - December 7, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Salinity Tolerance Mechanism of Osmotin and Osmotin-like Proteins: A Promising Candidate for Enhancing Plant Salt Tolerance.
Conclusion: During salt stress, osmotin can help accumulate proline, and quench reactive oxygen species and free radicals. PMID: 29204083 [PubMed] (Source: Current Genomics)
Source: Current Genomics - December 7, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Improving Salt Tolerance of Chickpea Using Modern Genomics Tools and Molecular Breeding.
Conclusion: This review aims to provide a holistic view of recent advances in breeding chickpea for salt tolerance. Initially, we focus on the identification of novel genetic resources for salt tolerance via extensive germplasm screening. We then expand on the use of genome-wide and cost-effective techniques to gain new insights into the genetic control of salt tolerance, including the responsive genes/QTL(s), gene(s) networks/cross talk and intricate signalling cascades. PMID: 29204084 [PubMed] (Source: Current Genomics)
Source: Current Genomics - December 7, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Editorial: Latest Computational Techniques for Big Data Era Bioinformatics Problems.
Authors: Zou Q PMID: 29081685 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Ancestral Genome Reconstruction on Whole Genome Level.
Authors: Feng B, Zhou L, Tang J Abstract Comparative genomics, evolutionary biology, and cancer researches require tools to elucidate the evolutionary trajectories and reconstruct the ancestral genomes. Various methods have been developed to infer the genome content and gene ordering of ancestral genomes by using such genomic structural variants. There are mainly two kinds of computational approaches in the ancestral genome reconstruction study. Distance/event-based approaches employ genome evolutionary models and reconstruct the ancestral genomes that minimize the total distance or events over the edges of the giv...
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Predicting Protein Submitochondrial Locations: The 10th Anniversary.
Authors: Du PF Abstract Predicting protein submitochondrial location has been studied for about ten years. A number of methods have been developed. The prediction performances have been improved to an almost perfect level. In this review, we introduce the background of this research topic. We also compare the methods, the performances and the datasets that have been used by these studies. Towards the end, we provide hints for the future directions of this research topic. PMID: 29081687 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Noncoding Variants Functional Prioritization Methods Based on Predicted Regulatory Factor Binding Sites.
CONCLUSION: Along with the rapid development of the high-throughout assays, more and more sample data and chromatin features would be conducive to improve the prediction accuracy of the deep convolution neural network for TFBSs identification. Meanwhile, getting more insights into the deep CNN framework itself has been proved useful for both the promotion on model performance and the development for more suitable design to sample data. Based on the feature values predicted by the deep CNN model, the prioritization model for functional noncoding variants would contribute to reveal the affection of gene mutation on the disea...
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Assessing the Heritability of Complex Traits in Humans: Methodological Challenges and Opportunities.
Authors: Mayhew AJ, Meyre D Abstract The goal of this review article is to provide a conceptual based summary of how heritability estimates for complex traits such as obesity are determined and to explore the future directions of research in the heritability field. The target audience are researchers who use heritability data rather than those conducting heritability studies. The article provides an introduction to key concepts critical to understanding heritability studies including: i) definitions of heritability: broad sense versus narrow sense heritability; ii) how data for heritability studies are collected: t...
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Familial Colorectal Cancer Type X.
This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to localize new FCCTX genes, along with an overview of the genes and chromosomal areas that possibly relate to FCCTX. FCCTX is a heterogeneous group, mainly comprising cases caused by single high-penetrance genes, or by multiple low-penetrance genes acting together, and sporadic CRC cases. FCCTX differs in clinical, morphological and molecular genetic characteristics compared to LS, including a later age of onset, distal location of tumours in the colon, lower risk of developing extracolon...
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Genome-wide Discovery of Circular RNAs in the Leaf and Seedling Tissues of Arabidopsis Thaliana.
Authors: Dou Y, Li S, Yang W, Liu K, Du Q, Ren G, Yu B, Zhang C Abstract BACKGROUND: Recently, identification and functional studies of circular RNAs, a type of non-coding RNAs arising from a ligation of 3' and 5' ends of a linear RNA molecule, were conducted in mammalian cells with the development of RNA-seq technology. METHOD: Since compared with animals, studies on circular RNAs in plants are less thorough, a genome-wide identification of circular RNA candidates in Arabidopsis was conducted with our own developed bioinformatics tool to several existing RNA-seq datasets specifically for non-coding RNAs. R...
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Complete Genome of Achalarus lyciades, The First Representative of the Eudaminae Subfamily of Skippers.
CONCLUSIONS: A new reference genome of a dicot-feeding skippers, the first from the Eudaminae subfamily, reveals its larger size and suggests hypotheses about phenotypic traits and differences from monocot-feeding skippers. PMID: 29081692 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Editorial: Genomics and Epigenomics of Tumor and Aging Cells.
Authors: Aliev G, Barreto GE, Cacabelos R PMID: 29081693 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Recurrent Fusion Genes in Leukemia: An Attractive Target for Diagnosis and Treatment.
CONCLUSION: The presented review focuses on the history of fusion genes, mechanisms of formation, and treatments against specific fusion genes in leukemia. PMID: 29081694 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Aging as an Epigenetic Phenomenon.
CONCLUSION: Strong evidence shows that all epigenetic systems contribute to the lifespan control in various organisms. Similar to other cell systems, epigenome is prone to gradual degradation due to the genome damage, stressful agents, and other aging factors. But unlike mutations and other kinds of the genome damage, age-related epigenetic changes could be fully or partially reversed to a "young" state. PMID: 29081695 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Implication of Gastric Cancer Molecular Genetic Markers in Surgical Practice.
CONCLUSION: We demonstrated that molecular profiles detected in preoperative biopsies were confirmed by the material obtained intra-operatively. The use of endoscopic material facilitates gastric tumors pre-operative diagnostics, improving early detection of gastric cancer and potential effective treatment strategies. PMID: 29081696 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Genetic Risk Factors in Cerebrovascular Disorders and Cognitive Deterioration.
This study shows the relevance of polymorphisms in APOB (odds ratio (OR), 1.17; 95% confidence interval (95% CI), 0.74-1.85), APOC3 (OR, 1.33; 95% CI, 0.82-2.17) and APOE (OR, 1.75; 95% CI, 1.09-2.80), as genetic risk markers for hypercholesterolemia; polymorphisms in ACE (OR, 1.68; 95% CI, 0.32-8.77) and AGT (OR, 1.74; 95% CI, 0.97-3.14) for hypertension; and in APOE*3/*4 (OR, 2.06; 95% CI, 1.70-2.51) and APOE*4/*4 (OR, 3.08; 95% CI, 1.85-5.12) as unambiguous markers of dementia. RESULT: Our results also showed the transversal importance of proinflammatory cytokines in different stages of atherogenesis, with special r...
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Population-based Study of Risk Polymorphisms Associated with Vascular Disorders and Dementia.
CONCLUSION: The significantly higher distribution of risk polymorphisms in PSEN1 and APOE-ε4 is characteristic of a representative number of patients with Alzheimer's disease; whereas polymorphisms in ACE, AGT(235), and IL6(573), are most probably related with the high number of patients with metabolic syndrome or cerebrovascular damage. PMID: 29081698 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Optimization of Antidepressant use with Pharmacogenetic Strategies.
CONCLUSION: These results suggest that the prescription of pharmacogenetic profile-based strategies has a positive effect on the therapeutic response to antidepressants. PMID: 29081699 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

A Systematic In-silico Analysis of Helicobacter pylori Pathogenic Islands for Identification of Novel Drug Target Candidates.
CONCLUSION: These provocative studies enabled us to identify important molecules in H. pylori and their counter interacting molecules in the host leading to gastric cancer and also a pool of novel drug targets for therapeutic intervention of gastric cancer. PMID: 29081700 [PubMed] (Source: Current Genomics)
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Somatic Mutation Analyses in Studies of the Clonal Evolution and Diagnostic Targets of Prostate Cancer.
Authors: Mikhaylenko DS, Efremov GD, Strelnikov VV, Zaletaev DV, Alekseev BY Abstract Prostate cancer (PC) is the most common uro-oncological disease in the global population and still requires a more efficient laboratory diagnosis. Point mutations of oncogenes and tumor sup-pressor genes are the most frequent molecular genetic events in carcinogenesis. The mutations are re-sponsible, to a great extent, for the clonal evolution of cancer and can be considered as primary candi-date molecular markers of PC. Using next-generation sequencing to analyze the mutations in PC, the main molecular PC subtypes were identified...
Source: Current Genomics - July 1, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

The Genetics of Papillary Microcarcinomas of the Thyroid: Diagnostic and Prognostic Implications.
Authors: Rodrigues AC, Penna G, Rodrigues E, Castro P, Sobrinho-Simões M, Soares P Abstract Papillary microcarcinoma of the thyroid (mPTC) is defined by the WHO as a papillary thy-roid cancer measuring 10mm or less in diameter and it is nowadays a topic of intense debate among the members of the medical community due to its apparent "epidemic" rise. Although these tumors follow almost always an indolent clinical course and carry an excellent prognosis, it is known that a small sub-set may display a potentially aggressive behavior. Nevertheless, we still lack an accurate way of predict-ing those whi...
Source: Current Genomics - July 1, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research