Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates.

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：:After human genome sequencing and rapid changes in genome sequencing methods, we have entered into the era of rapidly accumulating genome-sequencing data. This has derived the development of several types of methods for representing results of genome sequencing data. Circular genome visual-ization tools are also criti...

journal_title：Current genomics

authors： Parveen A,Khurana S,Kumar A

更新日期：2019-02-01 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

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：: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：:Human chromosomal fragile sites are specific genomic regions which exhibit gaps or breaks on metaphase chromosomes following conditions of partial replication stress. Fragile sites often coincide with genes that are frequently rearranged or deleted in human cancers, with over half of cancer-specific translocations con...

journal_title：Current genomics

authors： Dillon LW,Burrow AA,Wang YH

更新日期：2010-08-01 00:00:00

abstract：:Embryonic stem (ES) cells are characterized by the expression of an extensive and interconnected network of pluripotency factors which are downregulated in specialized cells. Epigenetic mechanisms, including DNA methylation and histone modifications, are also important in maintaining this pluripotency program in ES ce...

journal_title：Current genomics

authors： Sui X,Price C,Li Z,Chen J

更新日期：2012-12-01 00:00:00

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 R...

journal_title：Current genomics

authors： Mills JD,Kawahara Y,Janitz M

更新日期：2013-05-01 00:00:00

abstract：:Thyroid gland presents a wide spectrum of tumours derived from follicular cells that range from well differentiated, papillary and follicular carcinoma (PTC and FTC, respectively), usually carrying a good prognosis, to the clinically aggressive, poorly differentiated (PDTC) and undifferentiated thyroid carcinoma (UTC)...

journal_title：Current genomics

authors： Soares P,Lima J,Preto A,Castro P,Vinagre J,Celestino R,Couto JP,Prazeres H,Eloy C,Máximo V,Sobrinho-Simões M

更新日期：2011-12-01 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：:Protein folding and clearance networks sense and respond to misfolded and aggregation-prone proteins by activating cytoprotective cell stress responses that safeguard the proteome against damage, maintain the health of the cell, and enhance lifespan. Surprisingly, cellular proteostasis undergoes a sudden and widesprea...

journal_title：Current genomics

authors： Shai N,Shemesh N,Ben-Zvi A

更新日期：2014-04-01 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：:Phosphorus (P) is an essential macronutrient for plant growth and development. Inorganic phosphate (Pi) is the major form of P taken up from the soil by plant roots. It is well established that under Pi deficiency condition, plant roots undergo striking morphological changes; mainly a reduction in primary root length ...

journal_title：Current genomics

authors： Bouain N,Doumas P,Rouached H

更新日期：2016-08-01 00:00:00

abstract：:Laccases (p-diphenol oxidase, EC 1.10.3.2) are blue multicopper oxidases that catalyze the reduction of dioxygen to water, with a concomitant oxidation of small organic substrates. Since the description at the end of the nineteenth century of a factor catalyzing the rapid hardening of the latex of the Japanese lacquer...

journal_title：Current genomics

authors： Robert V,Mekmouche Y,Pailley PR,Tron T

更新日期：2011-04-01 00:00:00

abstract：:Circadian clocks are intrinsic, time-tracking systems that bestow upon organisms a survival advantage. Under natural conditions, organisms are trained to follow a 24-h cycle under environmental time cues such as light to maximize their physiological efficiency. The exact timing of this rhythm is established via cell-a...

journal_title：Current genomics

authors： Okamoto-Uchida Y,Izawa J,Nishimura A,Hattori A,Suzuki N,Hirayama J

更新日期：2019-08-01 00:00:00

abstract：:Antigenic differences between normal and malignant cells of the cancer patient form the rationale for clinical immunotherapeutic strategies. Because the antigenic phenotype of neoplastic cells varies widely among different cells within the same malignant cell-population, immunization with a vaccine that stimulates imm...

journal_title：Current genomics

authors： Lichtor T,Glick RP,O-Sullivan I,Cohen EP

更新日期：2006-06-01 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：:Analytical models usually assume an additive sex effect by treating it as a covariate to identify genetic associations with sex-influenced traits. Their underlying assumptions are violated by ignoring interactions of sex with genetic factors and heterogeneous genetic effects by sex. Methods to deal with the problems a...

journal_title：Current genomics

authors： Lee C

更新日期：2015-10-01 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：: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...

journal_title：Current genomics

authors： Liu H,Tang L

更新日期：2013-03-01 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：Background:Duchenne Muscular Dystrophy (DMD) is a progressive, fatal neuromuscular disorder caused by mutations in the DMD gene. Emerging antisense oligomer based exon skipping therapy provides hope for the restoration of the reading frame. Objectives:Population-based DMD mutation database may enable exon skipping to ...

journal_title：Current genomics

authors： Tyagi R,Kumar S,Dalal A,Mohammed F,Mohanty M,Kaur P,Anand A

更新日期：2019-11-01 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 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：: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：: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：: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 epidermal growth factor receptor (EGFR) is a membrane-bound, 170 kDa, protein tyrosine kinase that plays an important role in tumorigenesis. The EGFR gene, which is composed of over 168 kb of sequence, including a 123-kb first intron, is frequently amplified and rearranged in malignant gliomas leading to the expre...

journal_title：Current genomics

authors： Fenstermaker RA,Ciesielski MJ

更新日期：2007-05-01 00:00:00

abstract：:MicroRNAs(miRNAs) have become the center of interest in oncology. In recent years, various studies have demonstrated that miRNAs regulate gene expression by influencing important regulatory genes and thus are responsible for causing cervical cancer. Cervical cancer being the third most diagnosed cancer among the femal...

journal_title：Current genomics

authors： Sharma G,Dua P,Agarwal SM

更新日期：2014-08-01 00:00:00

abstract：:A genome-wide scanning of Sorghum bicolor resulted in the identification of 25 SbHsf genes. Phylogenetic analysis shows the ortholog genes that are clustered with only rice, representing a common ancestor. Promoter analysis revealed the identification of different cis-acting elements that are responsible for abiotic a...

journal_title：Current genomics

authors： Nagaraju M,Reddy PS,Kumar SA,Srivastava RK,Kishor PB,Rao DM

更新日期：2015-08-01 00:00:00