Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders.

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：: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：: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

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：:Transcriptional regulation plays vital roles in many fundamental biological processes. Reverse engineering of genome-wide regulatory networks from high-throughput transcriptomic data provides a promising way to characterize the global scenario of regulatory relationships between regulators and their targets. In this r...

journal_title：Current genomics

authors： Liu ZP

更新日期：2015-02-01 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：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：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：: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：: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：: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：: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：: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：: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：: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：: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：Background:Lung cancer (LC) development is a process that depends on genetic mutations. The DNA methylation, an important epigenetic modification, is associated with the expression of non-coding RNAs, such as microRNAs. MicroRNAs are particularly essential for cell physiology, since they play a critical role in tumor s...

journal_title：Current genomics

authors： Pozza DH,De Mello RA,Araujo RLC,Velcheti V

更新日期：2020-08-01 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：: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：: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：: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：: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：: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：: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：: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：BACKGROUND:This study was carried out to classify the diversity of the deep marine psychrotolerant actinomycetes sp. nov., in the Bay of Bengal and exploit the production of cold-active industrial and pharmaceutical biomolecules. OBJECTIVE:1) Characterization, optimum the growth conditions and classify the diversity o...

journal_title：Current genomics

authors： Ghosh M,Gera M,Singh J,Prasad R,Pulicherla KK

更新日期：2020-05-01 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：: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：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：:The presence of chromosomes with diffuse centromeres (holocentric chromosomes) has been reported in several taxa since more than fifty years, but a full understanding of their origin is still lacking. Comparative and functional genomics are nowadays furnishing new data to better understand holocentric chromosome evolu...

journal_title：Current genomics

authors： Mandrioli M,Manicardi GC

更新日期：2012-08-01 00:00:00