A Postgenomic Perspective on Molecular Cytogenetics.

abstract：:Increasing evidence links genomic and epigenomic instability, including multiple fragile sites regions to neuropsychiatric diseases including schizophrenia and autism. Cancer is the only other disease associated with multiple fragile site regions, and genome and epigenomic instability is a characteristic of cancer. Re...

journal_title：Current genomics

authors： Smith CL,Bolton A,Nguyen G

更新日期：2010-09-01 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：Background:The cardiac system is a combination of a complex structure, various cells, and versatile specified functions and sophisticated regulatory mechanisms. Moreover, cardiac diseases that encompass a wide range of endogenous conditions, remain a serious health burden worldwide. Recent genome-wide profiling techniq...

journal_title：Current genomics

authors： Chen Z,Wei L,Duru F,Chen L

更新日期：2020-12-01 00:00:00

abstract：:Preterm Birth (PTB) accounts for approximately 11% of all births worldwide each year and is a profound physiological stressor in early life. The burden of neuropsychiatric and developmental impairment is high, with severity and prevalence correlated with gestational age at delivery. PTB is a major risk factor for the ...

journal_title：Current genomics

authors： Fitzgerald E,Boardman JP,Drake AJ

更新日期：2018-11-01 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：: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 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：: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：: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：: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：: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：Introduction:N6-methyladenosine (m6A) is one of the most widely studied epigenetic modifications. It plays important roles in various biological processes, such as splicing, RNA localization and degradation, many of which are related to the functions of introns. Although a number of computational approaches have been p...

journal_title：Current genomics

authors： Liu L,Lei X,Meng J,Wei Z

更新日期：2020-01-01 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：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：:Genomic disorders are a clinically diverse group of conditions caused by gain, loss or re-orientation of a genomic region containing dosage-sensitive genes. One class of genomic disorder is caused by hemizygous deletions resulting in haploinsufficiency of a single or, more usually, several genes. For example, the hete...

journal_title：Current genomics

authors： O'Driscoll M

更新日期：2008-05-01 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

abstract：:The availability of complete human and other metazoan genome sequences has greatly facilitated positioning and analysis of various genomic functional elements, with initial emphasis on coding sequences. However, complete functional maps of sequenced eukaryotic genomes should include also positions of all non-coding re...

journal_title：Current genomics

authors： Nikolaev LG,Akopov SB,Chernov IP,Sverdlov ED

更新日期：2007-04-01 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：: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：: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：:Until recently, understanding the regulatory behavior of cells has been pursued through independent analysis of the transcriptome or the proteome. Based on the central dogma, it was generally assumed that there exist a direct correspondence between mRNA transcripts and generated protein expressions. However, recent st...

journal_title：Current genomics

authors： Haider S,Pal R

更新日期：2013-04-01 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：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：: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 ...

journal_title：Current genomics

authors： Wang C,Wei L,Guo M,Zou Q

更新日期：2013-09-01 00:00:00

abstract：:Uncertainty about linkage phases of multiple single nucleotide polymorphisms (SNPs) in heterozygous diploids challenges the identification of specific DNA sequence variants that encode a complex trait. A statistical technique implemented with the EM algorithm has been developed to infer the effects of SNP haplotypes f...

journal_title：Current genomics

authors： Wu S,Yang J,Wang C,Wu R

更新日期：2007-08-01 00:00:00

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 clin...

journal_title：Current genomics

authors： Rodrigues AC,Penna G,Rodrigues E,Castro P,Sobrinho-Simões M,Soares P

更新日期：2017-06-01 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：:In nature, microbes do not exist in isolation but co-exist in a variety of ecological and biological environments and on various host organisms. Due to their close proximity, these microbes interact among themselves, and also with the hosts in both positive and negative manners. Moreover, these interactions may modula...

journal_title：Current genomics

authors： Ang KS,Lakshmanan M,Lee NR,Lee DY

更新日期：2018-12-01 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：:Since the sequencing of the nuclear genome of Arabidopsis thaliana ten years ago, various large-scale analyses of gene function have been performed in this model species. In particular, the availability of collections of lines harbouring random T-DNA or transposon insertions, which include mutants for almost all of th...

journal_title：Current genomics

authors： Bolle C,Schneider A,Leister D

更新日期：2011-03-01 00:00:00