Overview of Genomic Tools for Circular Visualization in the Next-generation Genomic Sequencing Era.

abstract：Background:Copy Number Variants (CNVs) represent a prevailing type of structural variation (deletions or duplications) in the human genome. In the last few years, several studies have demonstrated that CNVs represent significant mutations in Alzheimer's Disease (AD) hereditability. Currently, innovative high-throughput...

journal_title：Current genomics

authors： Cuccaro D,Guarnaccia M,Iemmolo R,D'Agata V,Cavallaro S

更新日期：2018-09-01 00:00:00

abstract：:Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by mutations in the SMN1 gene. Being a monogenic disease, it is characterized by high clinical heterogeneity. Variations in penetrance and severity of symptoms, as well as clinical discrepancies between affected family members can result from modifier ge...

journal_title：Current genomics

authors： Maretina MA,Zheleznyakova GY,Lanko KM,Egorova AA,Baranov VS,Kiselev AV

更新日期：2018-08-01 00:00:00

abstract：:Oils of plant origin have been predominantly used for food-based applications. Plant oils not only represent a non-polluting renewable resource but also provide a wide diversity in fatty acids (FAs) composition with diverse applications. Besides being edible, they are now increasingly being used in industrial applicat...

journal_title：Current genomics

authors： Kumar A,Sharma A,Upadhyaya KC

更新日期：2016-06-01 00:00:00

abstract：:According to the Developmental Origin of Health and Disease (DOHaD) concept, maternal obesity and the resulting accelerated growth in neonates predispose offspring to obesity and associated metabolic diseases that may persist across generations. In this context, the adipose tissue has emerged as an important player du...

journal_title：Current genomics

authors： Lecoutre S,Kwok KHM,Petrus P,Lambert M,Breton C

更新日期：2019-09-01 00:00:00

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. i...

journal_title：Current genomics

authors： García BA,de Rosas AR,Blariza MJ,Grosso CG,Fernández CJ,Stroppa MM

更新日期：2013-08-01 00:00:00

abstract：:Inheritance of genetic material requires that chromosomes segregate faithfully during cell division. Failure in this process can drive to aneuploidy phenomenon. Kinetochores are unique centromere macromolecular protein structures that attach chromosomes to the spindle for a proper movement and segregation. A unique ty...

journal_title：Current genomics

authors： Valdivia MM,Hamdouch K,Ortiz M,Astola A

更新日期：2009-08-01 00:00:00

abstract：:Microarray studies have successfully shed light on various aspects of the molecular mechanisms behind the development of hepatocellular carcinoma (HCC), such as the identification of novel molecular subgroups and the genetic profiles associated with metastasis and venous invasion. These experiments, mainly comprising ...

journal_title：Current genomics

authors： Maass T,Sfakianakis I,Staib F,Krupp M,Galle PR,Teufel A

更新日期：2010-06-01 00:00:00

abstract：:MDM family proteins are crucial regulators of the oncosuppressor p53. Alterations of their gene status, mainly amplification events, have been frequently observed in human tumors.MDM4 is one of the two members of the MDM family. The human gene is located on chromosome 1 at q32-33 and codes for a protein of 490aa. In a...

journal_title：Current genomics

authors： Mancini F,Di Conza G,Moretti F

更新日期：2009-03-01 00:00:00

abstract：:The advent of genomics in the study of developmental mechanisms has brought a trove of information on gene datasets and regulation during development, where the Zic family of zinc-finger proteins plays an important role. Genomic analysis of the modes of action of Zic3 in pluripotent cells demonstrated its requirement ...

journal_title：Current genomics

authors： Winata CL,Kondrychyn I,Korzh V

更新日期：2015-04-01 00:00:00

abstract：:The ascomycete Trichoderma reesei is used for the production of plant cell wall-degrading enzymes in industrial scale. The interplay of the transactivator Xyr1 and the repressor Cre1 mainly regulates the expression of these enzymes. During induc-ing conditions, such as in the presence of sophorose, the transcription o...

journal_title：Current genomics

authors： Mello-de-Sousa TM,Rassinger A,Derntl C,Poças-Fonseca MJ,Mach RL,Mach-Aigner AR

更新日期：2016-04-01 00:00:00

abstract：:In the recent years, glyoxalase pathway has been an active area of research in both human and plants. This pathway is reported to confer stress tolerance in plants, by modulating the glutathione homeostasis to achieve detoxification of a potent cytotoxic and mutagenic compound, methylglyoxal. The microRNAs (miRNAs) ar...

journal_title：Current genomics

authors： Tripathi A,Chacon O,Singla-Pareek SL,Sopory SK,Sanan-Mishra N

更新日期：2018-01-01 00:00:00

abstract：:Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunc...

journal_title：Current genomics

authors： Marshall JD,Maffei P,Collin GB,Naggert JK

更新日期：2011-05-01 00:00:00

abstract：:Women outlive men, but life expectancy is not influenced by hormone replacement (estrogen + progestin) therapy. Estrogens appear to protect brain, cardiovascular tissues, and bone from aging. Estrogens regulate genes directly through binding to estrogen receptors alpha and beta (ERalpha and ERbeta) that are ligand-act...

journal_title：Current genomics

authors： Klinge CM

更新日期：2009-05-01 00:00:00

abstract：:Malignant gliomas are lethal primary intracranial tumors. To date, little information on the role of deregulated genes in gliomas have been identified. As the involvement of miRNAs in the carcinogenesis is well known, we carried out a pilot study to identify, as potential biomarkers, differentially expressed microRNAs...

journal_title：Current genomics

authors： Ivo D'Urso P,Fernando D'Urso O,Damiano Gianfreda C,Mezzolla V,Storelli C,Marsigliante S

更新日期：2015-10-01 00:00:00

abstract：Introduction:Hydroxylation is one of the most important post-translational modifications (PTM) in cellular functions and is linked to various diseases. The addition of one of the hydroxyl groups (OH) to the lysine sites produces hydroxylysine when undergoes chemical modification. Methods:The method which is used in th...

journal_title：Current genomics

authors： Mahmood MK,Ehsan A,Khan YD,Chou KC

更新日期：2020-11-01 00:00:00

abstract：Introduction:Trypanosoma brucei uses antigenic variation to evade the host antibody clearance by periodically changing its Variant Surface Glycoprotein (VSGs) coat. T. brucei encode over 2,500 VSG genes and pseudogenes, however they transcribe only one VSG gene at time from one of the 20 telomeric Expression Sites (ESs...

journal_title：Current genomics

authors： Cestari I,Stuart K

更新日期：2018-02-01 00:00:00

abstract：:Spliceosomal introns in higher eukaryotes are present in a high percentage of protein coding genes and represent a high proportion of transcribed nuclear DNA. In the last fifteen years, a growing mass of data concerning functional roles carried out by such intervening sequences elevated them from a selfish burden carr...

journal_title：Current genomics

authors： Morello L,Breviario D

更新日期：2008-06-01 00:00:00

abstract：:Cancers arise as a result of stepwise accumulation of mutations which may occur at the nucleotide level and/or the gross chromosomal level. Many cancers particularly those of the colon display a form of genomic instability which may facilitate and speed up tumor initiation and development. In few instances, a "mutator...

journal_title：Current genomics

authors： Abdel-Rahman WM

更新日期：2008-12-01 00:00:00

abstract：:The term retinitis pigmentosa (RP) indicates a heterogeneous group of genetic rare ocular diseases in which either rods or cones are prevalently damaged. RP represents the most common hereditary cause of blindness in people from 20 to 60 years old. In general, the different RP forms consist of progressive photo-recept...

journal_title：Current genomics

authors： Parmeggiani F,Sato G,De Nadai K,Romano MR,Binotto A,Costagliola C

更新日期：2011-06-01 00:00:00

abstract：:The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to ...

journal_title：Current genomics

authors： Zetner DB,Bisgaard ML

更新日期：2017-08-01 00:00:00

abstract：:The study of local adaptation is a main focus of evolutionary biology since it may contribute to explain the current species diversity. The genomic scan procedures permit for the first time to study the connection between specific DNA patterns and processes as natural selection, genetic drift, recombination, mutation ...

journal_title：Current genomics

authors： Rivas MJ,Domínguez-García S,Carvajal-Rodríguez A

更新日期：2015-06-01 00:00:00

abstract：:The study of immune related genes in lampreys and hagfish provides a unique perspective on the evolutionary genetic underpinnings of adaptive immunity and the evolution of vertebrate genomes. Separated from their jawed cousins at the stem of the vertebrate lineage, these jawless vertebrates have many of the gene famil...

journal_title：Current genomics

authors： McCurley N,Hirano M,Das S,Cooper MD

更新日期：2012-04-01 00:00:00

abstract：:Carcinogenesis involves the inactivation or inhibition of genes that function as tumor suppressors. Deletions, mutations, or epigenetic silencing of tumor suppressor genes can lead to altered growth, differentiation, and apoptosis. DNA methylation and histone modifications are important epigenetic mechanisms of gene r...

journal_title：Current genomics

authors： Takai N,Narahara H

更新日期：2008-03-01 00:00:00

abstract：:After completion of the human genome, genome-wide association studies were conducted to identify single nucleotide polymorphisms (SNPs) associated with cancer initiation and progression. Most of the studies identified SNPs that were located outside the coding region, and the odds ratios were too low to implement in cl...

journal_title：Current genomics

authors： Verma M

更新日期：2012-06-01 00:00:00

abstract：:Squamous cell carcinoma of the head and neck is one of the most common cancer types worldwide. It initiates on the epithelial lining of the upper aerodigestive tract, at most instances as a consequence of tobacco and alcohol consumption. Treatment options based on conventional therapies or targeted therapies under dev...

journal_title：Current genomics

authors： Hernandes C,Pereira AMS,Severino P

更新日期：2017-02-01 00:00:00

abstract：BACKGROUND:Helicobacter pylori is associated with inflammation of different areas, such as the duodenum and stomach, causing gastritis and gastric ulcers leading to lymphoma and cancer. Pathogenic islands are a type of clustered mobile elements ranging from 10-200 Kb contributing to the virulence of the respective path...

journal_title：Current genomics

authors： Nammi D,Yarla NS,Chubarev VN,Tarasov VV,Barreto GE,Pasupulati AMC,Aliev G,Neelapu NRR

更新日期：2017-10-01 00:00:00

abstract：:Whole-genome studies involving a phenotype of interest are increasingly prevalent, in part due to a dramatic increase in speed at which many high throughput technologies can be performed coupled to simultaneous decreases in cost. This type of genome-scale methodology has been applied to the phenotype of lifespan, as w...

journal_title：Current genomics

authors： McCormick MA,Kennedy BK

更新日期：2012-11-01 00:00:00

abstract：:Microorganisms that are capable of live and adapt in hostile habitats of different environmental factors such as extremes temperature, salinity, nutrient availability and pressure are known as extremophiles. Exposure to xenobiotic compounds is global concern influencing the world population as a health hazard. Hence t...

journal_title：Current genomics

authors： Shukla AK,Singh AK

更新日期：2020-04-01 00:00:00

abstract：:In recent years, genomic, animal and cell biology studies have implicated deficiencies in retromer-mediated trafficking of proteins in an increasing number of neurodegenerative diseases including Alzheimer's Disease (AD), Parkinson's Disease (PD) and Frontotemporal Lobar Degener-ation (FTLD). The retromer complex, whi...

journal_title：Current genomics

authors： Reitz C

更新日期：2018-05-01 00:00:00

abstract：:Plant breeding has been very successful in developing improved varieties using conventional tools and methodologies. Nowadays, the availability of genomic tools and resources is leading to a new revolution of plant breeding, as they facilitate the study of the genotype and its relationship with the phenotype, in parti...

journal_title：Current genomics

authors： Pérez-de-Castro AM,Vilanova S,Cañizares J,Pascual L,Blanca JM,Díez MJ,Prohens J,Picó B

更新日期：2012-05-01 00:00:00