679 results match your criteria Current Genomics[Journal]


Model Microbial Consortia as Tools for Understanding Complex Microbial Communities.

Curr Genomics 2018 Dec;19(8):723-733

1Department of Biological Sciences, Tokyo Metropolitan University, Hachioji, Tokyo, Japan; 2National Institute of Advanced Industrial Science and Technology, Sapporo, Hokkaido, Japan.

A major biological challenge in the postgenomic era has been untangling the composition and functions of microbes that inhabit complex communities or microbiomes. Multi-omics and modern bioinformatics have provided the tools to assay molecules across different cellular and community scales; however, mechanistic knowledge over microbial interactions often remains elusive. This is due to the immense diversity and the essentially undiminished volume of not-yet-cultured microbes. Read More

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http://dx.doi.org/10.2174/1389202919666180911131206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225455PMC
December 2018
2 Reads

Metabolic Modeling of Microbial Community Interactions for Health, Environmental and Biotechnological Applications.

Curr Genomics 2018 Dec;19(8):712-722

1Bioprocessing Technology Institute (BTI), ASTAR, Singapore 138668, Singapore; 2Department of Chemical and Biomolecular Engineering, and NUS Synthetic Biology for Clinical and Technological Innovation (SynCTI), National University of Singapore, Singapore 117585, Singapore; 3School of Chemical Engineering, Sungkyunkwan University, 2066 Seobu-ro, Jangan-gu, Suwon, Gyeonggi-do16419, Republic of Korea.

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 modulate dynamically upon external stimulus as well as internal community changes. Read More

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http://www.eurekaselect.com/165312/article
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http://dx.doi.org/10.2174/1389202919666180911144055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225453PMC
December 2018
2 Reads
2.342 Impact Factor

Diverse Distribution of Resistomes in the Human and Environmental Microbiomes.

Curr Genomics 2018 Dec;19(8):701-711

1Research Group of Healthcare, Korea Food Research Institute, Jeollabuk-do 55365, South Korea; 2Department of Computer Science and Engineering, Hanyang University, Seoul133-791, South Korea; 3Department of Biomedical Informatics, Hanyang University, Seoul133-791, South Korea.

The routine therapeutic use of antibiotics has caused resistance genes to be disseminated across microbial populations. In particular, bacterial strains having antibiotic resistance genes are frequently observed in the human microbiome. Moreover, multidrug-resistant pathogens are now widely spread, threatening public health. Read More

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http://dx.doi.org/10.2174/1389202919666180911130845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225452PMC
December 2018
1 Read

Epigenetic Changes Associated with Early Life Experiences: Saliva, A Biospecimen for DNA Methylation Signatures.

Curr Genomics 2018 Dec;19(8):676-698

1Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, NM87131, USA; 2Department of Computer Science, University of New Mexico, Albuquerque, NM87131, USA.

Background: Adverse Childhood Experiences (ACEs), which include traumatic injury, are associated with poor health outcomes in later life, yet the biological mechanisms mediating this association are unknown. Neurocircuitry, immune system and hormone regulation differ from normal in adults reporting ACEs. These systems could be affected by epigenetic changes, including methylation of cytosine (5mC) in genomic DNA, activated by ACEs. Read More

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http://dx.doi.org/10.2174/1389202919666180307150508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225450PMC
December 2018
1 Read

Intergenerational Transmission of DNA Methylation Signatures Associated with Early Life Stress.

Curr Genomics 2018 Dec;19(8):665-675

1Department of Genetic Medicine and Development, University of Geneva Hospitals and Faculty of Medicine, Geneva, Switzerland; 2Department of Child & Adolescent Psychiatry, University of Geneva Hospitals and Faculty of Medicine, Geneva, Switzerland; 3Department of Child & Adolescent Psychiatry, New York University School of Medicine, New York, NY, USA.

Early life stress in humans (i.e. maltreatment, violence exposure, loss of a loved one) and in rodents (i. Read More

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http://dx.doi.org/10.2174/1389202919666171229145656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225454PMC
December 2018
1 Read

How Stress Gets Under the Skin: Early Life Adversity and Glucocorticoid Receptor Epigenetic Regulation.

Curr Genomics 2018 Dec;19(8):653-664

Department of Psychology, Northwestern University, Evanston, IL60208, USA.

Early life adversity is associated with both persistent disruptions in the hypothalamic-pituitary-adrenal (HPA) axis and psychiatric symptoms. Glucocorticoid receptors (GRs), which are encoded by the NR3C1 gene, bind to cortisol and other glucocorticoids to create a negative feedback loop within the HPA axis to regulate the body's neuroendocrine response to stress. Excess methylation of a promoter sequence within NR3C1 that attenuates GR expression, however, has been associated with both early life adversity and psychopathology. Read More

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http://dx.doi.org/10.2174/1389202919666171228164350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225447PMC
December 2018
3 Reads

Epigenetic Programming Effects of Early Life Stress: A Dual-Activation Hypothesis.

Authors:
Vanessa Lux

Curr Genomics 2018 Dec;19(8):638-652

Department of Genetic Psychology, Faculty of Psychology, Ruhr University Bochum, Bochum, Germany.

Epigenetic processes during early brain development can function as 'developmental switches' that contribute to the stability of long-term effects of early environmental influences by programming central feedback mechanisms of the HPA axis and other neural networks. In this thematic review, we summarize accumulated evidence for a dual-activation of stress-related and sensory networks underlying the epigenetic programming effects of early life stress. We discuss findings indicating epigenetic programming of stress-related genes with impact on HPA axis function, the interaction of epigenetic mechanisms with neural activity in stress-related neural networks, epigenetic effects of glucocorticoid exposure, and the impact of stress on sensory development. Read More

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http://dx.doi.org/10.2174/1389202919666180307151358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225448PMC
December 2018
1 Read

A Genomic and Epigenomic Approach for Studying Neuropsychiatric Disorders Associated to Early-life Stress: Part II.

Curr Genomics 2018 Dec;19(8):637

Guest Editor Institute of Neurological Sciences Italian National Research Council Via Paolo Gaifami, 18 95125 Catania Italy Tel: +39-095-7338128000 E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225451PMC
December 2018
1 Read

A Network Biology Approach for Assessing the Role of Pathologic Adipose Tissues in Insulin Resistance Using Meta-analysis of Microarray Datasets.

Curr Genomics 2018 Nov;19(7):630-666

1Department of Biotechnology, Institute of Applied Sciences & Humanities, GLA University, Mathura (U.P.), India; 2Uttarakhand Technical University, Dehradun (U.K.), India; 3Department of Biochemistry and Biotechnology, S.B.S. (PG) Institute of Biomedical Sciences & Research, Dehradun (U.K.), India.

Background: The role of adipose tissue in Insulin resistance (IR) and Type 2 Diabetes (T2D) has well been received in the biomedical community; being a precursor of T2D, identification of the molecular basis of IR is therefore, vital to elucidate T2D- pathogenesis and meta-analysis of previously conducted microarray studies provides an inexpensive approach to achieve this end.

Methods: In this study, we have carried out a statistical meta-analysis of 157 microarray datasets from five independent studies and identified a meta-signature of 1,511 genes; their functional meaning was elucidated by integrated pathways-analysis. Further, a protein-protein interaction network was constructed and key genes along with their high confidence transcriptional- and epigenetic-mediators were identified using a network biology approach. Read More

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http://www.eurekaselect.com/164052/article
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http://dx.doi.org/10.2174/1389202919666180726125645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194434PMC
November 2018
3 Reads

Interplay Between MicroRNAs and Targeted Genes in Cellular Homeostasis of Adult Zebrafish ().

Curr Genomics 2018 Nov;19(7):615-629

1Department of Medicine, Medical University of South Carolina, Charleston, SC29425, USA; 2Hollings Marine Laboratory, Medical University of South Carolina, Charleston, SC29425, USA; 3Center for Genomic Medicine Bioinformatics, Medical University of South Carolina, Charleston, SC29425, USA; 4Department of Pathology, Medical University of South Carolina, Charleston, SC29425, USA; 5Academic Affairs Faculty, Medical University of South Carolina, Charleston, SC29425, USA; 6Department of Medicine, University of California, La Jolla, CA92093, USA; 7Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC29425, USA.

Background: Cellular homeostasis is regulated by the intricate interplay between a plethora of signaling pathways and "energetic sensors" in organs. In order to maintain energy balance, induction or repression of metabolic pathways must be regulated and act in concert with the energetic demands of the cell at a given point in time. A new class of small noncoding RNAs, the microRNAs (miRNAs), has added yet further complexity to the control of metabolic homeostasis. Read More

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http://dx.doi.org/10.2174/1389202919666180503124522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194436PMC
November 2018
11 Reads

Parallel Algorithms for Inferring Gene Regulatory Networks: A Review.

Curr Genomics 2018 Nov;19(7):603-614

Department of Electrical and Computer Engineering, University of Zanjan, Zanjan, Iran.

System biology problems such as whole-genome network construction from large-scale gene expression data are sophisticated and time-consuming. Therefore, using sequential algorithms are not feasible to obtain a solution in an acceptable amount of time. Today, by using massively parallel computing, it is possible to infer large-scale gene regulatory networks. Read More

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http://dx.doi.org/10.2174/1389202919666180601081718DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194435PMC
November 2018
2 Reads

Early Life Stress and Epigenetics in Late-onset Alzheimer's Dementia: A Systematic Review.

Authors:
Erwin Lemche

Curr Genomics 2018 Nov;19(7):522-602

Section of Cognitive Neuropsychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

Involvement of life stress in Late-Onset Alzheimer's Disease (LOAD) has been evinced in longitudinal cohort epidemiological studies, and endocrinologic evidence suggests involvements of catecholamine and corticosteroid systems in LOAD. Early Life Stress (ELS) rodent models have successfully demonstrated sequelae of maternal separation resulting in LOAD-analogous pathology, thereby supporting a role of insulin receptor signalling pertaining to GSK-3beta facilitated tau hyper-phosphorylation and amyloidogenic processing. Discussed are relevant ELS studies, and findings from three mitogen-activated protein kinase pathways (JNK/SAPK pathway, ERK pathway, p38/MAPK pathway) relevant for mediating environmental stresses. Read More

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http://dx.doi.org/10.2174/1389202919666171229145156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194433PMC
November 2018
25 Reads

Preterm Birth and the Risk of Neurodevelopmental Disorders - Is There a Role for Epigenetic Dysregulation?

Curr Genomics 2018 Nov;19(7):507-521

1University/British Heart Foundation Centre for Cardiovascular Science, University of Edinburgh, The Queen's Medical Research Institute, 47 Little France Crescent, EdinburghEH16 4TJ, UK; 2MRC Centre for Reproductive Health, University of Edinburgh, The Queen's Medical Research Institute, 47 Little France Crescent, EdinburghEH16 4TJ, UK.

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 development of cerebral palsy, lower educational attainment and deficits in cognitive functioning, and individuals born preterm have higher rates of schizophrenia, autistic spectrum disorder and attention deficit/hyperactivity disorder. Read More

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http://www.eurekaselect.com/158723/article
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http://dx.doi.org/10.2174/1389202919666171229144807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158617PMC
November 2018
9 Reads

Editorial: A Genomic and Epigenomic Approach for Studying Neuropsychiatric Disorders Associated to Early-life Stress: Part I.

Curr Genomics 2018 Nov;19(7):505-506

Guest Editors Institute of Neurological Sciences Italian National Research Council Via Paolo Gaifami, 18 Catania 95125 Italy E-mails:

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http://dx.doi.org/10.2174/138920291907180808105035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194437PMC
November 2018
1 Read

NeuroArray, A Custom CGH Microarray to Decipher Copy Number Variants in Alzheimer's Disease.

Curr Genomics 2018 Sep;19(6):499-504

1Institute of Neurological Sciences, National Research Council, Section of Catania, Catania, Italy; 2Section of Human Anatomy and Histology, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.

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 platforms and bioinformatics algorithms are spreading to screening CNVs involved in different neurological diseases. Read More

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http://dx.doi.org/10.2174/1389202919666180122141425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128388PMC
September 2018
11 Reads

An Effective Pipeline Based on Relative Coverage for the Genome Assembly of Phytoplasmas and Other Fastidious Prokaryotes.

Curr Genomics 2018 Sep;19(6):491-498

Department of Agricultural, Food, Environmental and Animal Sciences, University of Udine, Udine, Italy.

Background: For the plant pathogenic phytoplasmas, as well as for several fastidious prokaryotes, axenic cultivation is extremely difficult or not possible yet; therefore, even with second generation sequencing methods, obtaining the sequence of their genomes is challenging due to host sequence contamination.

Objective: With the Phytoassembly pipeline here presented, we aim to provide a method to obtain high quality genome drafts for the phytoplasmas and other uncultivable plant pathogens, by exploiting the coverage differential in the ILLUMINA sequences from the pathogen and the host, and using the sequencing of a healthy, isogenic plant as a filter.

Validation: The pipeline has been benchmarked using simulated and real ILLUMINA runs from phytoplasmas whose genome is known, and it was then used to obtain high quality drafts for three new phytoplasma genomes. Read More

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http://www.eurekaselect.com/160469/article
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http://dx.doi.org/10.2174/1389202919666180314114628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128390PMC
September 2018
9 Reads

Artificial Neural Network as a Classifier for the Identification of Hepatocellular Carcinoma Through Prognosticgene Signatures.

Curr Genomics 2018 Sep;19(6):483-490

Department of Biotechnology, National Institute of Technology Raipur, Raipur - 492010, India.

Background: Artificial Neural Networks (ANNs) can be used to classify tumor of Hepatocellular carcinoma based on their gene expression signatures. The neural network is trained with gene expression profiles of genes that were predictive of recurrence in liver cancer, the ANNs became capable of correctly classifying all samples and distinguishing the genes most suitable for the organization. The ability of the trained ANN models in recognizing the Cancer Genes was tested as we analyzed additional samples that were not used beforehand for the training procedure, and got the correctly classified result in the validation set. Read More

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http://dx.doi.org/10.2174/1389202919666180215155234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128386PMC
September 2018
6 Reads

Regulation of Age-related Decline by Transcription Factors and Their Crosstalk with the Epigenome.

Curr Genomics 2018 Sep;19(6):464-482

1Integrated Cardio Metabolic Centre (ICMC), Department of Medicine, Karolinska Institutet, Huddinge, Stockholm, Sweden; 2Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Stockholm, Sweden; 3European Research Institute for the Biology of Ageing (ERIBA), University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Aging is a complex phenomenon, where damage accumulation, increasing deregulation of biological pathways, and loss of cellular homeostasis lead to the decline of organismal functions over time. Interestingly, aging is not entirely a stochastic process and progressing at a constant rate, but it is subject to extensive regulation, in the hands of an elaborate and highly interconnected signaling network. This network can integrate a variety of aging-regulatory stimuli, i. Read More

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http://dx.doi.org/10.2174/1389202919666180503125850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128382PMC
September 2018
18 Reads

Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.

Curr Genomics 2018 Sep;19(6):444-463

1Human Genetics Unit, Indian Statistical Institute, 203 B.T. Road, Kolkata 700108, West Bengal, India; 2Medical College and Hospital, 88, College Street, Kolkata 700073, West Bengal, India; 3Tata Memorial Centre, Mumbai400012, India; 4Tata Medical Center, Newtown, Rajarhat, 700156, Kolkata, West Bengal, India.

Pancreatic Ductal AdenoCarcinoma (PDAC) is one of the most lethal malignancies of all solid cancers. Precancerous lesions for PDAC include PanIN, IPMNs and MCNs. PDAC has a poor prognosis with a 5-year survival of approximately 6%. Read More

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http://dx.doi.org/10.2174/1389202919666180221160753DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128383PMC
September 2018
2 Reads

: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders.

Curr Genomics 2018 Sep;19(6):431-443

1Institute of Neurological Sciences, National Research Council, Via Paolo Gaifami 18, 95125, Catania, Italy; 2Institute of Neurological Sciences, National Research Council, 87050, Mangone, Cosenza, Italy; 3Department of Biomedical and Biotechnological Sciences, Section of Human Anatomy and Histology, University of Catania, Catania, Italy; 4Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU "Policlinico-Vittorio Emanuele", Catania, Italy.

Background: Neurological disorders are a highly heterogeneous group of pathological conditions that affect both the peripheral and the central nervous system. These pathologies are characterized by a complex and multifactorial etiology involving numerous environmental agents and genetic susceptibility factors. For this reason, the investigation of their pathogenetic basis by means of traditional methodological approaches is rather arduous. Read More

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http://www.eurekaselect.com/160974/article
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http://dx.doi.org/10.2174/1389202919666180404105451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128384PMC
September 2018
15 Reads

Copy Number Variations in Adult-onset Neuropsychiatric Diseases.

Curr Genomics 2018 Sep;19(6):420-430

Department of Neurology, University at Buffalo, SUNY, Buffalo, NY14203, USA.

Adult-onset neuropsychiatric diseases are one of the most challenging areas of medicine. While symptomatic treatments are available, for most of these diseases the exact pathomechanism is not known, thus, disease-modifying therapies are difficult to conceptualize and find. The two most common and best studied neuropsychiatric diseases affecting higher cortical functions in humans are schizophrenia and Alzheimer's disease; both diseases have high heritability, however, the genetic architecture is not fully elucidated. Read More

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http://dx.doi.org/10.2174/1389202919666180330153842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128389PMC
September 2018
8 Reads

A Review of Copy Number Variants in Inherited Neuropathies.

Curr Genomics 2018 Sep;19(6):412-419

Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.

The rapid development in the last 10-15 years of microarray technologies, such as oligonucleotide array Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphisms (SNP) genotyping array, has improved the identification of fine chromosomal structural variants, ranging in length from kilobases (kb) to megabases (Mb), as an important cause of genetic differences among healthy individuals and also as disease-susceptibility and/or disease-causing factors. Structural genomic variations due to unbalanced chromosomal rearrangements are known as Copy-Number Variants (CNVs) and these include variably sized deletions, duplications, triplications and translocations. CNVs can significantly contribute to human diseases and rearrangements in several dosage-sensitive genes have been identified as an important causative mechanism in the molecular aetiology of Charcot-Marie-Tooth (CMT) disease and of several CMT-related disorders, a group of inherited neuropathies with a broad range of clinical phenotypes, inheritance patterns and causative genes. Read More

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http://www.eurekaselect.com/160880/article
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http://dx.doi.org/10.2174/1389202919666180330153316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128387PMC
September 2018
18 Reads

Editorial: Copy Number Variants in Neurological Disorder.

Curr Genomics 2018 Sep;19(6):411

Guest Editors.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128385PMC
September 2018
1 Read

Impact of p53 arg72pro SNP on Breast Cancer Risk in North Indian Population.

Curr Genomics 2018 Aug;19(5):395-410

Department of Biosciences, Faculty of Natural Sciences, Jamia Millia Islamia (A Central University), New Delhi-110025, India.

Background: Genetic changes in p53 gene contribute to breast cancer susceptibility.

Objective And Methods: A case-control study and a meta-analysis were performed to investigate the role of p53 codon72 SNP with breast cancer susceptibility in Indian women.

Results: p53 heterozygous arginine variant was associated with decreased risk of breast cancer in total cohort. Read More

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http://www.eurekaselect.com/158065/article
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http://dx.doi.org/10.2174/1389202919666171205104137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030857PMC
August 2018
12 Reads
2.342 Impact Factor

An Ultrahigh-Dimensional Mapping Model of High-order Epistatic Networks for Complex Traits.

Curr Genomics 2018 Aug;19(5):384-394

Department of Public Health Sciences, Penn State College of Medicine, Hershey, PA17033, USA.

Background: Genetic interactions involving more than two loci have been thought to affect quantitatively inherited traits and diseases more pervasively than previously appreciated. However, the detection of such high-order interactions to chart a complete portrait of genetic architecture has not been well explored.

Methods: We present an ultrahigh-dimensional model to systematically characterize genetic main effects and interaction effects of various orders among all possible markers in a genetic mapping or association study. Read More

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http://dx.doi.org/10.2174/1389202919666171218162210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030858PMC
August 2018
14 Reads

Functional Polymorphism in the Gene Promoter Confers a Decreased Risk of Lung Cancer in Chinese by Reducing Expression.

Curr Genomics 2018 Aug;19(5):375-383

The State Key Laboratory of Respiratory Disease, The First Affiliated Hospital, Guangzhou Medical University, 151 Yanjiangxi Road, Guangzhou, 510120, China.

Background: Musashi1 (MSI1) is a characteristic stem cell marker that regulates the balance between cell self-renewal and differentiation. Evidence has identified MSI1 as a pivotal oncogenic regulator in diverse malignancies. However, little evidence uncovers the role of genetic variations of MSI1 gene in cancer etiology. Read More

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http://dx.doi.org/10.2174/1389202919666171128151544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030856PMC
August 2018
6 Reads
2.342 Impact Factor

An Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder.

Curr Genomics 2018 Aug;19(5):370-374

Center for Experimental Medicine and Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.

Background: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function.

Objective: This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family.

Methods: A four-generation consanguineous Chinese ANSD family and 200 unrelated healthy controls were enrolled. Read More

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http://dx.doi.org/10.2174/1389202919666171113152951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030853PMC
August 2018
5 Reads

Molecular Insights into Muscle Homeostasis, Atrophy and Wasting.

Curr Genomics 2018 Aug;19(5):356-369

Center for Life Nano Science@Sapienza, Istituto Italiano di Tecnologia, Rome, Italy.

Muscle homeostasis is guaranteed by a delicate balance between synthesis and degradation of cell proteins and its alteration leads to muscle wasting and diseases. In this review, we describe the major anabolic pathways that are involved in muscle growth and homeostasis and the proteolytic systems that are over-activated in muscle pathologies. Modulation of these pathways comprises an attractive target for drug intervention. Read More

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http://dx.doi.org/10.2174/1389202919666180101153911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030854PMC
August 2018
8 Reads

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

Curr Genomics 2018 Aug;19(5):339-355

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya line, 3, Saint Petersburg199034, Russia.

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 genes influence on disease manifestation. Read More

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http://dx.doi.org/10.2174/1389202919666180101154916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030859PMC
August 2018
6 Reads

X-Linked Sensorineural Hearing Loss: A Literature Review.

Curr Genomics 2018 Aug;19(5):327-338

Unit of Audiology, Department of Neurosciences, Reproductives and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy.

Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several types of transmission. X-linked hearing loss accounts for approximately 1% - 2% of cases of non-syndromic forms, as well as for many syndromic forms. To date, six loci (DFNX1-6) and five genes (PRPS1 for DFNX1, POU3F4 for DFNX2, SMPX for DFNX4, AIFM1 for DFNX5 and COL4A6 for DFNX6) have been identified for X-linked non-syndromic hearing loss. Read More

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http://dx.doi.org/10.2174/1389202919666171218163046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030855PMC
August 2018
6 Reads

Role of Sequence Variations in Gene Towards Modulating Smoking Induced Lung Cancer Susceptibility in North Indian Population: A Multiple Interaction Analysis.

Curr Genomics 2018 May;19(4):313-326

Department of Pulmonary Medicine, Post Graduate Institute of Medical Education and Research (PGIMER), Sector 14, Chandigarh, India.

Background: AhR, a ubiquitously expressed ligand-activated transcription factor, upon its encounter with the foreign ligands activates the transcriptional machinery of genes encoding for bio-transformation enzymes like CYP1A1 hence, mediating the metabolism of Poly aromatic hydrocarbons and nitrosamines which account for the maximally found carcinogen in cigarette smoke. Polymorphic variants of AhR play a significant role and are held responsible for disposing the individuals with greater chances of acquiring lung cancer.

Objective: To study the role of AhR variants (rs2282885, rs10250822, rs7811989, rs2066853) in affect-ing lung cancer susceptibility. Read More

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http://dx.doi.org/10.2174/1389202918666170915160606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930452PMC
May 2018
2 Reads

Decoding Common Features of Neurodegenerative Disorders: From Differentially Expressed Genes to Pathways.

Curr Genomics 2018 May;19(4):300-312

Biosciences Department, COMSATS Institute of Information Technology, Islamabad, Pakistan.

Background: Neurodegeneration is a progressive/irreversible loss of neurons, building blocks of our nervous system. Their degeneration gradually collapses the entire structural and functional system manifesting in myriads of clinical disorders categorized as Neurodegenerative Disorders (NDs) such as Alzheimer's Disease, (AD), Parkinson's Disease (PD), Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS). NDs are characterized by a puzzling interplay of molecular and cellular defects affecting subset of neuronal populations in specific affected brain areas. Read More

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http://dx.doi.org/10.2174/1389202918666171005100549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930451PMC
May 2018
5 Reads

Transcription Factor Co-expression Networks of Adipose RNA-Seq Data Reveal Regulatory Mechanisms of Obesity.

Curr Genomics 2018 May;19(4):289-299

Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Grønnegårdsvej 7, 1870 Frederiksberg C, Denmark.

Background: Transcription Factors (TFs) control actuation of genes in the genome and are key mediators of complex processes such as obesity. Master Regulators (MRs) are the genes at the top of a regulation hierarchy which regulate other genes.

Objective: To elucidate clusters of highly co-expressed TFs (modules), involved pathways, highly inter-connected TFs (hub-TFs) and MRs leading to obesity and leanness, using porcine model for human obesity. Read More

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http://dx.doi.org/10.2174/1389202918666171005095059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930450PMC
May 2018
5 Reads

Retromer Dysfunction and Neurodegenerative Disease.

Authors:
Christiane Reitz

Curr Genomics 2018 May;19(4):279-288

The Taub Institute for Research on Alzheimer's Disease and the Aging Brain, The Gertrude H. Sergievsky Center, Columbia University, New York, NY, USA; Department of Neurology, Columbia University, New York, NY, USA; Department of Epidemiology, Columbia University, New York, NY, USA.

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, which is highly conserved across all eukaryotes, regulates the sorting of transmembrane proteins out of endo-somes to the cell surface or to the trans-Golgi network. Within retromer, cargo selection and binding are performed by a trimer of the Vps26, Vps29 and Vps35 proteins, named the "Cargo-Selective Complex (CSC)". Read More

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http://dx.doi.org/10.2174/1389202919666171024122809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930449PMC
May 2018
2 Reads

Decoding the Emerging Patterns Exhibited in Non-coding RNAs Characteristic of Lung Cancer with Regard to their Clinical Significance.

Curr Genomics 2018 May;19(4):258-278

MEDFUTURE - Research Center for Advanced Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Lung cancer continues to be the leading topic concerning global mortality rate caused by can-cer; it needs to be further investigated to reduce these dramatic unfavorable statistic data. Non-coding RNAs (ncRNAs) have been shown to be important cellular regulatory factors and the alteration of their expression levels has become correlated to extensive number of pathologies. Specifically, their expres-sion profiles are correlated with development and progression of lung cancer, generating great interest for further investigation. Read More

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http://dx.doi.org/10.2174/1389202918666171005100124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930448PMC
May 2018
4 Reads

Roles of Perilipins in Diseases and Cancers.

Curr Genomics 2018 May;19(4):247-257

Department of Pathology and The Key Laboratories for Xinjiang Endemic and Ethnic Diseases, School of Medicine, Shihezi University, Shihezi 832002, Xinjiang, China.

Perilipins, an ancient family of lipid droplet-associated proteins, are embedded in a phospho-lipid monolayer of intracellular lipid droplets. The core of lipid droplets is composed of neutral fat, which mainly includes triglyceride and cholesterol ester. Perilipins are closely related to the function of lipid droplets, and they mediate lipid metabolism and storage. Read More

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http://dx.doi.org/10.2174/1389202918666170915155948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930447PMC
May 2018
20 Reads

A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization.

Curr Genomics 2018 Apr;19(3):240-246

Access to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.

Background: Short arm deletions of the X-chromosome are challenging issues for genetic counseling due to their low penetrance in population. Female carriers of these deletions have milder phenotype than male ones, considering the intellectual ability and social skills, probably because of the X-chromosome inactivation phenomenon.

Case Report: A female patient with a 10Mb distal Xp deletion and an Xq duplication, showing mild intellectual disability, is described in this report. Read More

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http://dx.doi.org/10.2174/1389202918666170725102220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850512PMC
April 2018
8 Reads

A Postgenomic Perspective on Molecular Cytogenetics.

Curr Genomics 2018 Apr;19(3):227-239

The Division of Hematology/Oncology, University of Michigan Comprehensive Cancer Center, Ann Arbor, MI, USA.

Background: The postgenomic era is featured by massive data collection and analyses from various large scale-omics studies. Despite the promising capability of systems biology and bioinformatics to handle large data sets, data interpretation, especially the translation of -omics data into clinical implications, has been challenging.

Discussion: In this perspective, some important conceptual and technological limitations of current systems biology are discussed in the context of the ultimate importance of the genome beyond the collection of all genes. Read More

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http://dx.doi.org/10.2174/1389202918666170717145716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850511PMC
April 2018
4 Reads

Early Stages of XY Sex Chromosomes Differentiation in the Fish (Characiformes, Erythrinidae) Revealed by DNA Repeats Accumulation.

Curr Genomics 2018 Apr;19(3):216-226

Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos, SP, Brazil.

Background: Species with 'young' or nascent sex chromosomes provide unique opportunities to understand early evolutionary mechanisms (e.g. accumulation of repetitive sequences, cessation of recombination and gene loss) that drive the evolution of sex chromosomes. Read More

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http://dx.doi.org/10.2174/1389202918666170711160528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850510PMC
April 2018
11 Reads

Molecular Cytogenetic Analysis of One African and Five Asian Macaque Species Reveals Identical Karyotypes as in Mandrill.

Curr Genomics 2018 Apr;19(3):207-215

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Am Klinikum 1, D-07747Jena, Germany.

Background: The question how evolution and speciation work is one of the major interests of biology. Especially, genetic including karyotypic evolution within primates is of special interest due to the close phylogenetic position of Macaca and Homo sapiens and the role as in vivo models in medical research, neuroscience, behavior, pharmacology, reproduction and Acquired Immune Deficiency Syndrome (AIDS).

Materials & Methods: Karyotypes of five macaque species from South East Asia and of one macaque species as well as mandrill from Africa were analyzed by high resolution molecular cytogenetics to obtain new insights into karyotypic evolution of old world monkeys. Read More

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http://dx.doi.org/10.2174/1389202918666170721115047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850509PMC
April 2018
15 Reads

Detecting Chromosome Condensation Defects in Gulf War Illness Patients.

Curr Genomics 2018 Apr;19(3):200-206

Center for Molecular Medicine and Genomics, Wayne State University School of Medicine, Detroit, MI48201, USA.

Background: Gulf War Illness (GWI) impacts 25-30% of gulf war veterans. Due to its heterogeneity in both etiology and symptoms, it has been challenging to establish the commonly accepted case definition for GWI. Equally challenging are the understanding of the general mechanism of GWI and the development of biomarkers useful for its clinical diagnosis and treatment. Read More

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http://dx.doi.org/10.2174/1389202918666170705150819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850508PMC
April 2018
4 Reads

Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human.

Curr Genomics 2018 Apr;19(3):192-199

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Am Klinikum 1, 07747Jena, Germany.

Background: Cytogenetically visible chromosomal imbalances in humans are deleterious and adverse in the majority of the cases. However, healthy persons living with chromosomal imbalances in the range of several megabasepairs (Mbps) in size, like carriers of small Supernumerary Marker Chromosomes (sSMCs) exist.

Materials & Methods: The identification of healthy sSMC carriers with euchromatic centromere-near (ECN) imbalances led to the following proposal: ECN-regions do not contain any dosage sensitive genes. Read More

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http://dx.doi.org/10.2174/1389202918666170717163830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850507PMC
April 2018
8 Reads

Polytene Chromosomes - A Portrait of Functional Organization of the Genome.

Curr Genomics 2018 Apr;19(3):179-191

Institute of Molecular and Cellular Biology of the Russian Academy of Sciences, Novosibirsk630090, Russian Federation.

This mini-review is devoted to the problem genetic meaning of main polytene chromosome structures - bands and interbands. Generally, densely packed chromatin forms black bands, moderately condensed regions form grey loose bands, whereas decondensed regions of the genome appear as interbands. Recent progress in the annotation of the Drosophila genome and epigenome has made it possible to compare the banding pattern and the structural organization of genes, as well as their activity. Read More

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http://dx.doi.org/10.2174/1389202918666171016123830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850506PMC
April 2018
6 Reads

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects.

Curr Genomics 2018 Apr;19(3):173-178

Mental Health Research Center, Moscow, Russian Federation.

During the last decades, a large amount of newly described microduplications and microdeletions associated with intellectual disability (ID) and related neuropsychiatric diseases have been discovered. However, due to natural limitations, a significant part of them has not been the focus of multidisciplinary approaches. Here, we address previously undescribed chromosome 4q21. Read More

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http://dx.doi.org/10.2174/1389202918666170717161426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850505PMC
April 2018
6 Reads

Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level Post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders.

Curr Genomics 2018 Apr;19(3):163-172

Mental Health Research Center, Moscow, Russian Federation.

Background: Postzygotic chromosomal variation in neuronal cells is hypothesized to make a substantial contribution to the etiology and pathogenesis of neuropsychiatric disorders. However, the role of somatic genome instability and mosaic genome variations in common mental illnesses is a matter of conjecture.

Materials And Methods: To estimate the pathogenic burden of somatic chromosomal mutations, we determined the frequency of mosaic aneuploidy in autopsy brain tissues of subjects with schizophrenia and other psychiatric disorders (intellectual disability comorbid with autism spectrum disorders). Read More

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http://dx.doi.org/10.2174/1389202918666170717154340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850504PMC
April 2018
10 Reads

Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis.

Curr Genomics 2018 Apr;19(3):158-162

Separated Structural Unit "Clinical Research Institute of Pediatrics at Pirogov Russian National Research Medical University named after Y.E Veltishev", Ministry of Health of Russian Federation, Moscow125412, Russian Federation.

Behavioral sciences are inseparably related to genetics. A variety of neurobehavioral phenotypes are suggested to result from genomic variations. However, the contribution of genetic factors to common behavioral disorders (i. Read More

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http://dx.doi.org/10.2174/1389202918666170719165339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850503PMC
April 2018
6 Reads

: Genomic insight into Parasite's Physiology.

Curr Genomics 2018 Feb;19(2):150-156

Life Science Research Centre, Faculty of Science, University of Ostrava, 710 00 Ostrava, Czech Republic.

Background: Leptomonas pyrrhocoris is a parasite of the firebug Pyrrhocoris apterus. This flagellate has been recently proposed as a model species for studying different aspects of the biology of monoxenous trypanosomatids, including host - parasite interactions. During its life cycle L. Read More

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http://dx.doi.org/10.2174/1389202918666170815143331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814963PMC
February 2018
6 Reads

Epigenetic Regulation of Transcription in Trypanosomatid Protozoa.

Curr Genomics 2018 Feb;19(2):140-149

Unidad de Biomedicina, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México. Av. de los Barrios 1, Col. Los Reyes Iztacala, Tlalnepantla, Edo. de México, CP 54090, México.

The Trypanosomatid family includes flagellated parasites that cause fatal human diseases. Remarkably, protein-coding genes in these organisms are positioned in long tandem arrays that are transcribed polycistronically. However, the knowledge about regulation of transcription initiation and termination in trypanosomatids is scarce. Read More

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http://dx.doi.org/10.2174/1389202918666170911163517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814962PMC
February 2018
3 Reads