Genetic variants in diseases of the extrapyramidal system.

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：: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：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：: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：:MicroRNAs (miRNAs) are short, noncoding, and single-stranded RNA molecules that negatively regulate gene expression. They are evolutionarily conserved from plants to animals. During the last decade, miRNAs have been demonstrated as regulators in fundamental biological processes, including cell growth, proliferation, d...

journal_title：Current genomics

authors： Xiang J,Wu J

更新日期：2010-04-01 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：: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：: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：: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：: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：: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：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：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：: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：:Cancer is currently a major public health problem and, as such, emerging research is making significant progress in identifying major players in its biology. One recent topic of interest involves microRNAs (miRNAs) which are small, non-coding RNA molecules that inhibit gene expression post-transcriptionally. They acco...

journal_title：Current genomics

authors： Vandenboom Ii TG,Li Y,Philip PA,Sarkar FH

更新日期：2008-04-01 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：:Highly regenerative adult tissues are supported by rare populations of stem cells that continuously divide to self-renew and generate differentiated progeny. This process is tightly regulated by signals emanating from surrounding cells to fulfill the dynamic demands of the tissue. One of the hallmarks of aging is slow...

journal_title：Current genomics

authors： Gonen O,Toledano H

更新日期：2014-06-01 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：: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：: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：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：: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：: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：:The mode of action of a huge amount of agents on biological systems is still unknown. One example where more questions than answers exist is covered by the term electromagnetic fields (EMF). Use of wireless communication, e.g. mobile phones, has been escalated in the last few years. Due to this fact, a lot of discussi...

journal_title：Current genomics

authors： Blankenburg M,Haberland L,Elvers HD,Tannert C,Jandrig B

更新日期：2009-04-01 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：: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：: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：: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：: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