Progress in multiple sclerosis genetics.
Authors: Goris A, Pauwels I, Dubois B Abstract A genetic component in the susceptibility to multiple sclerosis (MS) has long been known, and the first and major genetic risk factor, the HLA region, was identified in the 1970's. However, only with the advent of genome-wide association studies in the past five years did the list of risk factors for MS grow from 1 to over 50. In this review, we summarize the search for MS risk genes and the latest results. Comparison with data from other autoimmune and neurological diseases and from animal models indicates parallels and differences between diseases. We discuss how the...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Acknowledgements.
Authors: PMID: 23730205 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Editorial.
Authors: Neri C PMID: 23997645 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Invertebrate models of kallmann syndrome: molecular pathogenesis and new disease genes.
Authors: Di Schiavi E, Andrenacci D Abstract Kallmann Syndrome is a heritable disorder characterized by congenital anosmia, hypogonadotropic hypogonadism and, less frequently, by other symptoms. The X-linked form of this syndrome is caused by mutations affecting the KAL1 gene that codes for the extracellular protein anosmin-1. Investigation of KAL1 function in mice has been hampered by the fact that the murine ortholog has not been identified. Thus studies performed in other animal models have contributed significantly to an understanding of the function of KAL1. In this review, the main results obtained using the ...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Synthetic genomics and synthetic biology applications between hopes and concerns.
Authors: König H, Frank D, Heil R, Coenen C Abstract New organisms and biological systems designed to satisfy human needs are among the aims of synthetic genomics and synthetic biology. Synthetic biology seeks to model and construct biological components, functions and organisms that do not exist in nature or to redesign existing biological systems to perform new functions. Synthetic genomics, on the other hand, encompasses technologies for the generation of chemically-synthesized whole genomes or larger parts of genomes, allowing to simultaneously engineer a myriad of changes to the genetic material of organi...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.
Authors: Jelassi A, Najah M, Slimani A, Jguirim I, Slimane MN, Varret M Abstract Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic low-density lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease progression and its outcomes. Therefore, cascade screening protocol with a comb...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

The new perspectives on genetic studies of type 2 diabetes and thyroid diseases.
Authors: Xu M, Bi Y, Cui B, Hong J, Wang W, Ning G Abstract Recently, genome-wide association studies (GWAS) have led to the discovery of hundreds of susceptibility loci that are associated with complex metabolic diseases, such as type 2 diabetes and hyperthyroidism. The majority of the susceptibility loci are common across different races or populations; while some of them show ethnicity-specific distribution. Though the abundant novel susceptibility loci identified by GWAS have provided insight into biology through the discovery of new genes or pathways that were previously not known, most of them are in introns ...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Mechano-regulation of alternative splicing.
Authors: Liu H, Tang L Abstract Alternative splicing contributes to the complexity of proteome by producing multiple mRNAs from a single gene. Affymetrix exon arrays and experiments in vivo or in vitro demonstrated that alternative splicing was regulated by mechanical stress. Expression of mechano-growth factor (MGF) which is the splicing isoform of insulin-like growth factor 1(IGF-1) and vascular endothelial growth factor (VEGF) splicing variants such as VEGF121, VEGF165, VEGF206, VEGF189, VEGF165 and VEGF145 are regulated by mechanical stress. However, the mechanism of this process is not yet clear. Increasing ev...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Study of Cis-regulatory Elements in the Ascidian Ciona intestinalis.
Authors: Irvine SQ Abstract The ascidian (sea squirt) C. intestinalis has become an important model organism for the study of cis-regulation. This is largely due to the technology that has been developed for assessing cis-regulatory activity through the use of transient reporter transgenes introduced into fertilized eggs. This technique allows the rapid and inexpensive testing of endogenous or altered DNA for regulatory activity in vivo. This review examines evidence that C. intestinalis cis-regulatory elements are located more closely to coding regions than in other model organisms. I go on to compare the organiza...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Illuminating microRNA Transcription from the Epigenome.
We describe recent progress in the efforts to map genomic regions that control miRNA transcription (such as promoters). In particular, we highlight the utility of large-scale "-omic" data, such as those made available by the ENCODE and the NIH Roadmap Epigenomics consortiums, for the discovery of transcriptional control elements that govern miRNA expression. Finally, we discuss how integrative analysis of complementary genetic datasets, such as the NHGRI Genome Wide Association Studies Catalog, can predict novel roles for transcriptional mis-regulation of miRNAs in complex disease etiology. PMID: 23997652 [P...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Letter to the editor by megan Hall.
Authors: Saucier J, Merrion K, Mash J, Pettersen B, Hall M, Demko Z PMID: 24082818 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.
Authors: Clark N, Wu X, Her C Abstract The prominence of the human mismatch repair (MMR) pathway is clearly reflected by the causal link between MMR gene mutations and the occurrence of Lynch syndrome (or HNPCC). The MMR family of proteins also carries out a plethora of diverse cellular functions beyond its primary role in MMR and homologous recombination. In fact, members of the MMR family of proteins are being increasingly recognized as critical mediators between DNA damage repair and cell survival. Thus, a better functional understanding of MMR proteins will undoubtedly aid the development of strategies to effec...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Integrated analysis of transcriptomic and proteomic data.
This article reviews the existing major approaches for joint analysis of transcriptomic and proteomic data. We categorize the different approaches into eight main categories based on the initial algorithm and final analysis goal. We further present analogies with other domains and discuss the existing research problems in this area. PMID: 24082820 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Understanding Molecular Mechanisms of Durable and Non-durable Resistance to Stripe Rust in Wheat Using a Transcriptomics Approach.
Authors: Chen X, Coram T, Huang X, Wang M, Dolezal A Abstract Stripe rust of wheat, caused by Puccinia striiformis f. sp. tritici, continues to cause severe damage worldwide. Durable resistance is necessary for sustainable control of the disease. High-temperature adult-plant (HTAP) resistance, which expresses when the weather becomes warm and plants grow older, has been demonstrated to be durable. We conducted numerous studies to understand the molecular mechanisms of different types of stripe rust resistance using a transcriptomics approach. Through comparing gene expression patterns with race-specific, all-stage ...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

In-Silico Algorithms for the Screening of Possible microRNA Binding Sites and Their Interactions.
Authors: Dweep H, Sticht C, Gretz N Abstract MicroRNAs (miRNAs) comprise a recently discovered class of small, non-coding RNA molecules of 21-25 nucleotides in length that regulate the gene expression by base-pairing with the transcripts of their targets i.e. protein-coding genes, leading to down-regulation or repression of the target genes. However, target gene activation has also been described. miRNAs are involved in diverse regulatory pathways, including control of developmental timing, apoptosis, cell proliferation, cell differentiation, modulation of immune response to macrophages, and organ development and a...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Overview of Genomic Insights into Chicken Growth Traits Based on Genome-Wide Association Study and microRNA Regulation.
Authors: Xu Z, Nie Q, Zhang X Abstract Over the two past decades, a significant number of studies have observed animal growth traits to examine animal genetic mechanisms due to their ease of measurement and high heritability. Chicken which has a significant impact on fundamental biology is a major source of protein worldwide, making it an ideal model for examining animal growth trait development. The genetic mechanisms of chicken growth traits have been studied using quantitative trait loci mapping through genome-scan and candidate gene approaches, genome-wide association studies (GWAS), comparative genomic strateg...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Role of the Transforming-Growth-Factor-β1 Gene in Late-Onset Alzheimer's Disease: Implications for the Treatment.
Role of the Transforming-Growth-Factor-β1 Gene in Late-Onset Alzheimer's Disease: Implications for the Treatment. Curr Genomics. 2013 Apr;14(2):147-56 Authors: Bosco P, Ferri R, Salluzzo MG, Castellano S, Signorelli M, Nicoletti F, Nuovo SD, Drago F, Caraci F Abstract Late-onset Alzheimer's disease (LOAD) is the most common form of dementia in the elderly. LOAD has a complex and largely unknown etiology with strong genetic determinants. Genetics of LOAD is known to involve several genetic risk factors among which the Apolipoprotein E (APOE) gene seems to be the major recognized genetic determinant...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Compatible solute engineering in plants for abiotic stress tolerance - role of glycine betaine.
Authors: Wani SH, Singh NB, Haribhushan A, Mir JI Abstract Abiotic stresses collectively are responsible for crop losses worldwide. Among these, drought and salinity are the most destructive. Different strategies have been proposed for management of these stresses. Being a complex trait, conventional breeding approaches have resulted in less success. Biotechnology has emerged as an additional and novel tool for deciphering the mechanism behind these stresses. The role of compatible solutes in abiotic stress tolerance has been studied extensively. Osmotic adjustment, at the physiological level, is an adaptive mechan...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Epigenetics in ocular diseases.
Authors: Liu MM, Chan CC, Tuo J Abstract Epigenetics pertains to heritable alterations in gene expression that do not involve modification of the underlying genomic DNA sequence. Historically, the study of epigenetic mechanisms has focused on DNA methylation and histone modifications, but the concept of epigenetics has been more recently extended to include microRNAs as well. Epigenetic patterning is modified by environmental exposures and may be a mechanistic link between environmental risk factors and the development of disease. Epigenetic dysregulation has been associated with a variety of human diseases, includ...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Strand-Specific RNA-Seq Provides Greater Resolution of Transcriptome Profiling.
Authors: Mills JD, Kawahara Y, Janitz M Abstract RNA-Seq is a recently developed sequencing technology, that through the analysis of cDNA allows for unique insights into the transcriptome of a cell. The data generated by RNA-Seq provides information on gene expression, alternative splicing events and the presence of non-coding RNAs. It has been realised non-coding RNAs are more then just artefacts of erroneous transcription and play vital regulatory roles at the genomic, transcriptional and translational level. Transcription of the DNA sense strand produces antisense transcripts. This is known as antisense transcri...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Review: Alternative Splicing (AS) of Genes As An Approach for Generating Protein Complexity.
Authors: Roy B, Haupt LM, Griffiths LR Abstract Prior to the completion of the human genome project, the human genome was thought to have a greater number of genes as it seemed structurally and functionally more complex than other simpler organisms. This along with the belief of "one gene, one protein", were demonstrated to be incorrect. The inequality in the ratio of gene to protein formation gave rise to the theory of alternative splicing (AS). AS is a mechanism by which one gene gives rise to multiple protein products. Numerous databases and online bioinformatic tools are available for the detection an...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Mitochondria and familial predisposition to breast cancer.
Authors: Weigl S, Paradiso A, Tommasi S Abstract Mitochondrial genome and functional alterations are related to various diseases including cancer. In all cases, the role of these organelles is associated with defects in oxidative energy metabolism and control of tumor-induced oxidative stress. The present study examines the involvement of mitochondrial DNA in cancer and in particular in breast cancer. Furthermore, since mitochondrial DNA is maternally inherited, hereditary breast cancer has been focused on. PMID: 24179442 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Genomics of Chronic Obstructive Pulmonary Disease (COPD); Exploring the SNPs of Protease-Antiprotease Pathway.
Authors: Kumar M, Phougat N, Ruhil S, Dhankhar S, Balhara M, Chhillar AK Abstract The COPD has been an important respiratory condition that affects people worldwide and its incidence has been alarming. The increasing incidence of this disorder has been attributed to global industrialization and environmental pollution. Although the exposures to environmental pollutants and smoking have been important triggers, the genetic component of individuals has been shown to be important for development and progression of COPD. Recent literature reported that protease-antiprotease imbalance to be important in etiopathogenesis...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Phylogenetic Analysis of Brassica rapa MATH-Domain Proteins.
This study provides the first characterization of the MATH domain proteins in B. rapa. PMID: 24179444 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Wild mice as bountiful resources of novel genetic variants for quantitative traits.
Authors: Ishikawa A Abstract Most traits of biological importance, including traits for human complex diseases (e.g., obesity and diabetes), are continuously distributed. These complex or quantitative traits are controlled by multiple genetic loci called QTLs (quantitative trait loci), environments and their interactions. The laboratory mouse has long been used as a pilot animal model for understanding the genetic architecture of quantitative traits. Next-generation sequencing analyses and genome-wide SNP (single nucleotide polymorphism) analyses of mouse genomes have revealed that classical inbred strains commonly...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Regulation of cellulase and hemicellulase gene expression in fungi.
Authors: Amore A, Giacobbe S, Faraco V Abstract Research on regulation of cellulases and hemicellulases gene expression may be very useful for increasing the production of these enzymes in their native producers. Mechanisms of gene regulation of cellulase and hemicellulase expression in filamentous fungi have been studied, mainly in Aspergillus and Trichoderma. The production of these extracellular enzymes is an energy-consuming process, so the enzymes are produced only under conditions in which the fungus needs to use plant polymers as an energy and carbon source. Moreover, production of many of these enzymes is c...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Gene-based Genomewide Association Analysis: A Comparison Study.
The objective of this study is to compare the performance of the entropy-based method with the minimum p-value and single SNP-based analysis and to explore their strengths and weaknesses. Simulation studies show that: 1) all three methods can reasonably control the false-positive rate; 2) the minimum p-value method outperforms the entropy-based and the single SNP-based method when only one disease-related SNP occurs within the gene; 3) the entropy-based method outperforms the other methods when there are more than two disease-related SNPs in the gene; and 4) the entropy-based method is computationally more efficient than t...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

'From death, lead me to immortality' - mantra of ageing skeletal muscle.
Authors: Saini A, Mastana S, Myers F, Lewis MP Abstract Skeletal muscle is a post-mitotic tissue maintained by repair and regeneration through a population of stem cell-like satellite cells. Following muscle injury, satellite cell proliferation is mediated by local signals ensuring sufficient progeny for tissue repair. Age-related changes in satellite cells as well as to the local and systemic environment potentially impact on the capacity of satellite cells to generate sufficient progeny in an ageing organism resulting in diminished regeneration. 'Rejuvenation' of satellite cell progeny and regenerative capacity b...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

KRAB-Zinc Finger Proteins: A Repressor Family Displaying Multiple Biological Functions.
Authors: Lupo A, Cesaro E, Montano G, Zurlo D, Izzo P, Costanzo P Abstract Zinc finger proteins containing the Kruppel associated box (KRAB-ZFPs) constitute the largest individual family of transcriptional repressors encoded by the genomes of higher organisms. KRAB domain, positioned at the NH2 terminus of the KRAB-ZFPs, interacts with a scaffold protein, KAP-1, which is able to recruit various transcriptional factors causing repression of genes to which KRAB ZFPs bind. The relevance of such repression is reflected in the large number of the KRAB zinc finger protein genes in the human genome. However, in spite of t...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Evolutionary constraints favor a biophysical model explaining hox gene collinearity.
Authors: Almirantis Y, Provata A, Papageorgiou S Abstract The Hox gene collinearity enigma has often been approached using models based on biomolecular mechanisms. The biophysical model is an alternative approach based on the hypothesis that collinearity is caused by physical forces pulling the Hox genes from a territory where they are inactive to a distinct spatial domain where they are activated in a step by step manner. Such Hox gene translocations have recently been observed in support of the biophysical model. Genetic engineering experiments, performed on embryonic mice, gave rise to several unexpected mutant ...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Editorial: LANDMARKS IN DEVELOPMENTAL BIOLOGY AND EVOLUTION.
Authors: Durston AJ PMID: 24396266 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

At the origin of animals: the revolutionary cambrian fossil record.
Authors: Budd GE Abstract The certain fossil record of animals begins around 540 million years ago, close to the base of the Cambrian Period. A series of extraordinary discoveries starting over 100 years ago with Walcott's discovery of the Burgess Shale has accelerated in the last thirty years or so with the description of exceptionally-preserved Cambrian fossils from around the world. Such deposits of "Burgess Shale Type" have been recently complemented by other types of exceptional preservation. Together with a remarkable growth in knowledge about the environments that these early animals lived in, thes...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Dictyostelium: The Mathematician's Organism.
This article was to have been written by Kees Weijer, an outstanding pioneer in Dictyostelium research. It was (and is) to celebrate J.T. Bonner's and Weijer's contributions to the field and those of the other great pioneers. Unfortunately, Weijer was unable to write his article, due to ill health and since I have some knowledge of this field, I took it over. The article summarises some main results and ideas in Dictyostelium research and their relevance for development of more advanced organisms. PMID: 24396268 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Signaling with homeoprotein transcription factors in development and throughout adulthood.
Authors: Prochiantz A Abstract The concept of homeoprotein transduction as a novel signaling pathway has dramatically evolved since it was first proposed in 1991. It is now well established in several biological systems from plants to mammals. In this review, the different steps that have led to this unexpected observation are recalled and the developmental and physiological models that have allowed us (and a few others) to consolidate the original hypothesis are described. Because homeoprotein signaling is active in plants and animals it is proposed that it has predated the separation between animals and plants an...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Computational approaches in detecting non- coding RNA.
Authors: Wang C, Wei L, Guo M, Zou Q Abstract The important role of non coding RNAs (ncRNAs) in the cell has made their identification a critical issue in the biological research. However, traditional approaches such as PT-PCR and Northern Blot are costly. With recent progress in bioinformatics and computational prediction technology, the discovery of ncRNAs has become realistically possible. This paper aims to introduce major computational approaches in the identification of ncRNAs, including homologous search, de novo prediction and mining in deep sequencing data. Furthermore, related software tools have been com...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Anti-Sigma Factors in E. coli: Common Regulatory Mechanisms Controlling Sigma Factors Availability.
Authors: Treviño-Quintanilla LG, Freyre-González JA, Martínez-Flores I Abstract In bacteria, transcriptional regulation is a key step in cellular gene expression. All bacteria contain a core RNA polymerase that is catalytically competent but requires an additional σ factor for specific promoter recognition and correct transcriptional initiation. The RNAP core is not able to selectively bind to a given σ factor. In contrast, different σ factors have different affinities for the RNAP core. As a consequence, the concentration of alternate σ factors requires strict regulatio...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Will global transcriptome analysis allow the detection of novel prognostic markers in coronary artery disease and heart failure?
Authors: Gora M, Kiliszek M, Burzynska B Abstract Coronary artery disease (CAD) is one of the leading causes of death in the developed countries. Myocardial infarction (MI) is an acute episode of CAD that results in myocardial injury and subsequent heart failure (HF). In the acute phase of MI several risk factors for future cardiovascular events have been found. The molecular mechanisms of these disorders are still unknown, but altered gene expression may play an important role in the development and progression of cardiovascular diseases. High-throughput techniques should greatly facilitate the elucidation of the ...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Computational Prediction of Protein-Protein Interaction Networks: Algo-rithms and Resources.
In this study, we have reviewed several computational methods for protein-protein interaction prediction as well as describing major databases, which store both predicted and detected protein-protein interactions, and the tools used for analyzing protein interaction networks and improving protein-protein interaction reliability. PMID: 24396273 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Watching every step of the way: junín virus attenuation markers in the vaccine lineage.
Watching every step of the way: junín virus attenuation markers in the vaccine lineage. Curr Genomics. 2013 Nov;14(7):415-24 Authors: Stephan BI, Lozano ME, Goñi SE Abstract The Arenaviridae family includes several hemorrhagic fever viruses which are important emerging pathogens. Junín virus, a member of this family, is the etiological agent of Argentine Hemorrhagic Fever (AHF). A collaboration between the Governments of Argentina and the USA rendered the attenuated Junín virus vaccine strain Candid#1. Arenaviruses are enveloped viruses with genomes consisting of two single-...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review.
Authors: Berardinelli F, di Masi A, Antoccia A Abstract The relationship between DNA repair failure and cancer is well established as in the case of rare, high penetrant genes in high cancer risk families. Beside this, in the last two decades, several studies have investigated a possible association between low penetrant polymorphic variants in genes devoted to DNA repair pathways and risk for developing cancer. This relationship would be also supported by the observation that DNA repair processes may be modulated by sequence variants in DNA repair genes, leading to susceptibility to environmental carcinogens. In t...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Tumor Protein p63/microRNA Network in Epithelial Cancer Cells.
Authors: Ratovitski EA Abstract Non-coding microRNAs are involved in multiple regulatory mechanisms underlying response of cancer cells to stress leading to apoptosis, cell cycle arrest and autophagy. Many molecular layers are implicated in such cellular response including epigenetic regulation of transcription, RNA processing, metabolism, signaling. The molecular interrelationship between tumor protein (TP)-p53 family members and specific microRNAs is a key functional network supporting tumor cell response to chemotherapy and potentially playing a decisive role in chemoresistance of human epithelial cancers. TP63 ...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Genetics of the first seven proprotein convertase enzymes in health and disease.
Authors: Turpeinen H, Ortutay Z, Pesu M Abstract Members of the substilisin/kexin like proprotein convertase (PCSK) protease family cleave and convert immature pro-proteins into their biologically active forms. By cleaving for example prohormones, cytokines and cell membrane proteins, PCSKs participate in maintaining the homeostasis in a healthy human body. Conversely, erratic enzymatic function is thought to contribute to the pathogenesis of a wide variety of diseases, including obesity and hypercholestrolemia. The first characterized seven PCSK enzymes (PCSK1-2, FURIN, PCSK4-7) process their substrates at a motif...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Cisgenics - a sustainable approach for crop improvement.
Authors: Telem RS, Wani SH, Singh NB, Nandini R, Sadhukhan R, Bhattacharya S, Mandal N Abstract The implication of molecular biology in crop improvement is now more than three decades old. Not surprisingly, technology has moved on, and there are a number of new techniques that may or may not come under the genetically modified (GM) banner and, therefore, GM regulations. In cisgenic technology, cisgenes from crossable plants are used and it is a single procedure of gene introduction whereby the problem of linkage drag of other genes is overcome. The gene used in cisgenic approach is similar compared with classical b...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Actin-associated Proteins in the Pathogenesis of Podocyte Injury.
Authors: He FF, Chen S, Su H, Meng XF, Zhang C Abstract Podocytes have a complex cellular architecture with interdigitating processes maintained by a precise organization of actin filaments. The actin-based foot processes of podocytes and the interposed slit diaphragm form the final barrier to proteinuria. The function of podocytes is largely based on the maintenance of the normal foot process structure with actin cytoskeleton. Cytoskeletal dynamics play important roles during normal podocyte development, in maintenance of the healthy glomerular filtration barrier, and in the pathogenesis of glomerular diseases. In...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Genetics in diabetic retinopathy: current concepts and new insights.
Authors: Simó-Servat O, Hernández C, Simó R Abstract There is emerging evidence which indicates the essential role of genetic factors in the development of diabetic retinopathy (DR). In this regard it should be highlighted that genetic factors account for 25-50% of the risk of developing DR. Therefore, the use of genetic analysis to identify those diabetic patients most prone to developing DR might be useful in designing a more individualized treatment. In this regard, there are three main research strategies: candidate gene studies, linkage studies and Genome-Wide Association Studies (GWAS). I...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Studies on the pathophysiology and genetic basis of migraine.
The objective of current research is to better understand the pathways and mechanisms involved in causing pain and headache to be able to target interventions. The genetic component of migraine has been teased apart using linkage studies and both candidate gene and genome-wide association studies, in family and case-control cohorts. Genomic regions that increase individual risk to migraine have been identified in neurological, vascular and hormonal pathways. This review discusses knowledge of the pathophysiology and genetic basis of migraine with the latest scientific evidence from genetic studies. PMID: 24403849 [Pub...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Molecular Population Genetics and Evolution of the Chagas' Disease Vector Triatoma infestans (Hemiptera: Reduviidae).
Authors: García BA, de Rosas AR, Blariza MJ, Grosso CG, Fernández CJ, Stroppa MM Abstract Triatoma infestans (Klug) is the main vector of Chagas' disease in the Southern Cone of Latin America between the latitudes 10° S and 46° S. The long-term effectiveness of the control campaigns is greatly dependent upon the vector population structure. Mitochondrial DNA (mtDNA) genes have been used in a number of T. infestans population genetic analyses. However, the maternally inherited markers as well as nuclear ribosomal DNA analyzed until the present exhibited low or limited levels of variation. Analy...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Genome-wide Membrane Protein Structure Prediction.
Authors: Piccoli S, Suku E, Garonzi M, Giorgetti A Abstract Transmembrane proteins allow cells to extensively communicate with the external world in a very accurate and specific way. They form principal nodes in several signaling pathways and attract large interest in therapeutic intervention, as the majority pharmaceutical compounds target membrane proteins. Thus, according to the current genome annotation methods, a detailed structural/functional characterization at the protein level of each of the elements codified in the genome is also required. The extreme difficulty in obtaining high-resolution three-dimensio...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model.
Authors: Brinkmeyer-Langford C, Kornegay JN Abstract Duchenne muscular dystrophy (DMD) is a devastating disease that dramatically decreases the lifespan and abilities of affected young people. The primary molecular cause of the disease is the absence of functional dystrophin protein, which is critical to proper muscle function. Those with DMD vary in disease presentation and dystrophin mutation; the same causal mutation may be associated with drastically different levels of disease severity. Also contributing to this variation are the influences of additional modifying genes and/or changes in functional elements go...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Genetic factors in Parkinson's disease.
Authors: Dorszewska J PMID: 24532981 [PubMed] (Source: Current Genomics)
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research