Alström syndrome: genetics and clinical overview.

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：: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：: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：: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：:Knowledge on the genetics of movement disorders has advanced significantly in recent years. It is now recognized that disorders of the basal ganglia have genetic basis and it is suggested that molecular genetic data will provide clues to the pathophysiology of normal and abnormal motor control. Progress in molecular g...

journal_title：Current genomics

authors： Oczkowska A,Kozubski W,Lianeri M,Dorszewska J

更新日期：2014-02-01 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：: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：: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：Introduction:As a consequence of a sessile lifestyle, plants often have to face a number of life threatening abiotic and biotic stresses. Plants counteract the stresses through morphological and physiological adaptations, which are imparted through flexible and well-coordinated network of signalling and effector molecu...

journal_title：Current genomics

authors： Shukla A,Srivastava S,Suprasanna P

更新日期：2017-12-01 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：: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：: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: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：: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：: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：: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：: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：: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：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：: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：: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：:Low or high birth weight is one of the main causes for neonatal morbidity and mortality. They are also associated with adulthood chronic illness. Birth weight is a complex trait which is affected by baby's genes, maternal environments as well as the complex interactions between them. To understand the genetic basis of...

journal_title：Current genomics

authors： Luo T,Liu X,Cui Y

更新日期：2016-10-01 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：:Plant cryobiology has primarily emerged from the classical fields of cryobiology and plant stress physiology. Cryopreservation tools are now available to geneticists for germplasm preservation and the field itself is advancing significantly through the use of molecular techniques. Long-term preservation of vegetativel...

journal_title：Current genomics

authors： Volk GM

更新日期：2010-03-01 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：: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：: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：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：: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