Transcriptional Regulation and Its Misregulation in Human Diseases

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Publisher : Mdpi AG
ISBN 13 : 9783036577371
Total Pages : 0 pages
Book Rating : 4.5/5 (773 download)

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Book Synopsis Transcriptional Regulation and Its Misregulation in Human Diseases by : Amelia Casamassimi

Download or read book Transcriptional Regulation and Its Misregulation in Human Diseases written by Amelia Casamassimi and published by Mdpi AG. This book was released on 2023-05-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Transcriptional regulation is a critical biological process that allows the cell or an organism to respond to a variety of intra- and extracellular signals, to define cell identity during development, to maintain it throughout its lifetime, and to coordinate cellular activity. This control involves multiple temporal and functional steps as well as innumerable molecules including transcription factors, cofactors, and chromatin regulators. It is well known that many human disorders are characterized by global transcriptional dysregulation because most of the signaling pathways ultimately target transcription machinery. Indeed, many syndromes and genetic and complex diseases-cancer, autoimmunity, neurological and developmental disorders, and metabolic and cardiovascular diseases-can be caused by mutations/alterations in regulatory sequences, transcription factors, splicing regulators, cofactors, chromatin regulators, ncRNAs, and other components of transcription apparatus. It is worth noting that advances in our understanding of molecules and mechanisms involved in the transcriptional circuitry and apparatus lead to new insights into the pathogenetic mechanisms of various human diseases and disorders. Thus, this Special Issue is focused on molecular genetics and genomics studies exploring the effects of transcriptional misregulation on human diseases.

Transcriptional Regulation and Its Misregulation in Human Diseases

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Publisher :
ISBN 13 : 9783036577364
Total Pages : 0 pages
Book Rating : 4.5/5 (773 download)

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Book Synopsis Transcriptional Regulation and Its Misregulation in Human Diseases by : Amelia Casamassimi

Download or read book Transcriptional Regulation and Its Misregulation in Human Diseases written by Amelia Casamassimi and published by . This book was released on 2023 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Transcriptional regulation is a critical biological process that allows the cell or an organism to respond to a variety of intra- and extracellular signals, to define cell identity during development, to maintain it throughout its lifetime, and to coordinate cellular activity. This control involves multiple temporal and functional steps as well as innumerable molecules including transcription factors, cofactors, and chromatin regulators. It is well known that many human disorders are characterized by global transcriptional dysregulation because most of the signaling pathways ultimately target transcription machinery. Indeed, many syndromes and genetic and complex diseases--cancer, autoimmunity, neurological and developmental disorders, and metabolic and cardiovascular diseases--can be caused by mutations/alterations in regulatory sequences, transcription factors, splicing regulators, cofactors, chromatin regulators, ncRNAs, and other components of transcription apparatus. It is worth noting that advances in our understanding of molecules and mechanisms involved in the transcriptional circuitry and apparatus lead to new insights into the pathogenetic mechanisms of various human diseases and disorders. Thus, this Special Issue is focused on molecular genetics and genomics studies exploring the effects of transcriptional misregulation on human diseases.

Transcription Factors and Human Disease

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Publisher : Oxford Monographs on Medical G
ISBN 13 : 9780195112399
Total Pages : 396 pages
Book Rating : 4.1/5 (123 download)

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Book Synopsis Transcription Factors and Human Disease by : Gregg L. Semenza

Download or read book Transcription Factors and Human Disease written by Gregg L. Semenza and published by Oxford Monographs on Medical G. This book was released on 1998 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: Several general principles have emerged from the study of human transcription factors. First, germline mutations in genes encoding transcription factors result in malformation syndromes in which the development of multiple body structures is affected. Second, somatic mutations involving many of the same genes contribute to tumorigenesis. Third, transcriptional regulatory mechanisms demonstrate remarkable evolutionary conservation. Fourth, prenatal development and postnatal physiology are unified by the demonstration that a single transription factor can control the proliferation of progenitor cells during development and the expression within the differentiated cells of gene products that participate in specific physiologic responses. Transcription Factors and Human Disease presents the basic science of transcriptional regulation and then describes inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites. The involvement of transcription factors in somatic cell genetic diseases (cancer) and epigenetic disease (teratogenesis) is briefly discussed. The effect of specific mutations on transcription factor activity and the relationship between transcriptional dysregulation, dominant or recessive inheritance patterns, and disease pathogenesis are also explored. This book thus provides a direct connection between molecular defects in transcriptional regulation and human pathophysiology.

Transcriptional Regulation: Molecules, Involved Mechanisms and Misregulation

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Publisher : MDPI
ISBN 13 : 3039212656
Total Pages : 358 pages
Book Rating : 4.0/5 (392 download)

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Book Synopsis Transcriptional Regulation: Molecules, Involved Mechanisms and Misregulation by : Amelia Casamassimi

Download or read book Transcriptional Regulation: Molecules, Involved Mechanisms and Misregulation written by Amelia Casamassimi and published by MDPI. This book was released on 2019-07-30 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a printed edition of the Special Issue Transcriptional Regulation: Molecules, Involved Mechanisms and Misregulation that was published in IJMS

RNA Diseases in Humans – From Fundamental Research to Therapeutic Applications

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Publisher : Frontiers Media SA
ISBN 13 : 2889630978
Total Pages : 123 pages
Book Rating : 4.8/5 (896 download)

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Book Synopsis RNA Diseases in Humans – From Fundamental Research to Therapeutic Applications by : Naoyuki Kataoka

Download or read book RNA Diseases in Humans – From Fundamental Research to Therapeutic Applications written by Naoyuki Kataoka and published by Frontiers Media SA. This book was released on 2019-10-15 with total page 123 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Research Topic addresses the human diseases caused by a malfunction of the RNA metabolism. We aim at strengthening the link between fundamental research and therapeutic applications. In eukaryotes, RNA is transcribed from genomic DNA. RNA molecules undergo multiple post-transcriptional processes such as splicing, editing, modification, translation, and degradation. A defect, mis-regulation, or malfunction of these processes often results in diseases in humans, referred to as 'RNA diseases'. There is an increasing number of studies focused on RNA diseases, which are aimed at uncovering the fundamental molecular mechanisms at play in order to develop therapeutic approaches.

Transcription Regulation - Brain Development and Homeostasis - A Finely Tuned and Orchestrated Scenario in Physiology and Pathology, Volume II

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Publisher : Frontiers Media SA
ISBN 13 : 2832533817
Total Pages : 169 pages
Book Rating : 4.8/5 (325 download)

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Book Synopsis Transcription Regulation - Brain Development and Homeostasis - A Finely Tuned and Orchestrated Scenario in Physiology and Pathology, Volume II by : Estela Maris Muñoz

Download or read book Transcription Regulation - Brain Development and Homeostasis - A Finely Tuned and Orchestrated Scenario in Physiology and Pathology, Volume II written by Estela Maris Muñoz and published by Frontiers Media SA. This book was released on 2023-10-03 with total page 169 pages. Available in PDF, EPUB and Kindle. Book excerpt: A finely tuned regulation of gene expression is essential for shaping the nervous system and for maintaining its homeostasis throughout life. Disruptions in gene regulation can impact brain development and physiology in ways that contribute to diverse pathologies. The master orchestrators of gene activity in the nucleus are transcription factors, proteins that recognize and bind to specific DNA motifs in regulatory regions and drive changes in gene expression. Transcription factors act with the help of other co-factor proteins, including components of the Mediator complex, histone modifying enzymes, chromatin modelers, and DNA methylases. In addition, transcription factor activity in the nervous system can be modulated by extracellular signals, including growth factors, hormones, neuropeptides and neurotransmitters that activate specific receptors and intracellular transduction pathways. An in-depth understanding of the mechanisms of transcription regulation is needed in order to better describe how each element, from genes to cells, defines and maintains identities and functionalities in the healthy and diseased brain. This Research Topic is oriented to developing an integrative view about transcription regulation within the nervous system, focusing on developmental and homeostatic processes, dysregulation in functionality and expression levels and consequent associated pathologies such as neurodevelopmental disorders, brain tumors, and neurodegenerative diseases. Transcription regulation investigations will specifically focus on transcription factors that belong to the bHLH (e.g. NeuroD), homeobox (e.g. Islet, Pax, Rax, and Lhx) and CREB families, and on their roles over defined nervous system areas: cerebral cortex, thalamic and hypothalamic areas, interacting with the developing brain.

Transcription Elongation Factors in Health and Disease

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Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (139 download)

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Book Synopsis Transcription Elongation Factors in Health and Disease by : Preeti Dabas

Download or read book Transcription Elongation Factors in Health and Disease written by Preeti Dabas and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gene expression is a complex process that establishes and maintains a specific cell state. Transcription, an early event during the gene expression, is fine-tuned by a concerted action of a plethora of transcription factors temporally and spatially in response to various stimuli. Most of the earlier research has focused on the initiation of transcription as a key regulatory step. However, work done over the last two decades has highlighted the importance of regulation of transcription elongation by RNA Pol II in the implementation of gene expression programs during development. Moreover, accumulating evidence has suggested that dysregulation of transcription elongation due to dysfunction of transcription factors can result in developmental abnormalities and a broad range of diseases, including cancers. In this chapter, we review recent advances in our understanding of the dynamics of transcription regulation during the elongation stage, the significance of transcriptional regulatory complexes, and their relevance in the development of potential accurate therapeutic targets for different human diseases.

Transcriptional Gene Regulation in Health and Disease

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Publisher : Academic Press
ISBN 13 : 0128123400
Total Pages : 256 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Transcriptional Gene Regulation in Health and Disease by :

Download or read book Transcriptional Gene Regulation in Health and Disease written by and published by Academic Press. This book was released on 2018-01-02 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: Transcriptional Gene Regulation in Health and Disease, Volume 335, the latest release in the International Review of Cell and Molecular Biology reviews and details current advances in cell and molecular biology. The IRCMB series has a worldwide readership, maintaining a high standard by publishing invited articles on important and timely topics that are authored by prominent cell and molecular biologists. The articles published in IRCMB have a high impact and an average cited half-life of nine years. This great resource ranks high amongst scientific journals dealing with cell biology. Publishes only invited review articles on selected topics Authored by established and active cell and molecular biologists drawn from international sources Offers a wide range of perspectives on specific subjects

Transcriptional and Post-transcriptional Regulation

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Publisher : BoD – Books on Demand
ISBN 13 : 1789237912
Total Pages : 136 pages
Book Rating : 4.7/5 (892 download)

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Book Synopsis Transcriptional and Post-transcriptional Regulation by : Ghedira Kais

Download or read book Transcriptional and Post-transcriptional Regulation written by Ghedira Kais and published by BoD – Books on Demand. This book was released on 2018-10-10 with total page 136 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on the transcriptional and post-transcriptional gene regulations and presents a detailed portrait of many novel aspects related to highlighting the importance of key TFs in some vital biological processes, the role of certain TFs to control some infectious diseases, the role of non-coding RNAs in controlling mRNA expression, the involvement of these non-coding RNAs in diseases, and the interplay between TFs and microRNAs as key players for gene expression regulation giving a complete picture of how genes are regulated at the cellular level. The editor embarked upon this writing project entitled "Transcriptional and Post-transcriptional Regulation" to make pertinent contributions accessible to the scientific community. Hopefully, a large audience will enjoy reading and benefit from the chapters of this book.

Transcription Regulation and Human Disease

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Publisher :
ISBN 13 :
Total Pages : 114 pages
Book Rating : 4.:/5 (717 download)

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Book Synopsis Transcription Regulation and Human Disease by : Jean Villard (biologiste.)

Download or read book Transcription Regulation and Human Disease written by Jean Villard (biologiste.) and published by . This book was released on 2000 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Long-Range Control of Gene Expression

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Publisher : Academic Press
ISBN 13 : 0080877818
Total Pages : 415 pages
Book Rating : 4.0/5 (88 download)

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Book Synopsis Long-Range Control of Gene Expression by : Veronica van Heyningen

Download or read book Long-Range Control of Gene Expression written by Veronica van Heyningen and published by Academic Press. This book was released on 2011-09-02 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Long-Range Control of Gene Expression covers the current progress in understanding the mechanisms for genomic control of gene expression, which has grown considerably in the last few years as insight into genome organization and chromatin regulation has advanced. Discusses the evolution of cis-regulatory sequences in drosophila Includes information on genomic imprinting and imprinting defects in humans Includes a chapter on epigenetic gene regulation in cancer

Characterization of Novel Post-Transcriptional Events Misregulated In Disease

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Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (129 download)

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Book Synopsis Characterization of Novel Post-Transcriptional Events Misregulated In Disease by : Emma Bondy-Chorney

Download or read book Characterization of Novel Post-Transcriptional Events Misregulated In Disease written by Emma Bondy-Chorney and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: The misregulation of post-transcriptional mechanisms has been linked to the development and progression of numerous human diseases, in particular neurological disorders and cancer. Investigating these misregulated RNA pathways is essential to fully understand the disease mechanisms, identify novel biomarkers, and to develop effective therapies. In this thesis, I present three manuscripts that investigate the mechanisms behind the post-transcriptional misregulation of RNA in human disease, with a focus on pre-mRNA splicing. In the first manuscript (Bondy-Chorney et al., 2016a), we investigated the role of Staufen1 (Stau1) in splicing regulation in the neuromuscular disorder Myotonic Dystrophy Type 1 (DM1). Here we report the first insights into the mechanism that Stau1 uses to regulate the alternative splicing of INSR exon 11 through an interaction with Alu elements located in intron 10. Moreover, using a high-throughput RT-PCR screen, we uncovered a number of additional Stau1-regulated alternative splicing events in both wild-type and DM1 myoblast cell lines. As Stau1 is known to be aberrantly upregulated in DM1 skeletal muscle, our findings suggest that Stau1 acts as a disease modifier in this disorder. The second manuscript (Sanchez, Bondy-Chorney et al., 2015), describes a novel role of the protein methyltransferase Coactivator-Associated Methyltransferase-1 (CARM1), a protein found to be overexpressed in Spinal Muscular Atrophy (SMA). We found that CARM1 can act as a mediator in the nonsense-mediated decay pathway (NMD) and associated UPF1 to promoted its occupancy on PTC-containing transcripts. We identified a subset of natural non-PTC containing NMD targets that were dependent on CARM1, a number of which were misregulated in SMA. This work uncovered a novel role for CARM1 in the NMD pathway and revealed that defective targeting of PTC-containing mRNAs should be included in the complex array of molecular defects associated with SMA. Finally, the third manuscript (Bondy-Chorney et al., - in prep) examines the alternative iv splicing regulation of the Protein Arginine Methyltransferase PRMT1 exon 2, an event shown to alter the growth, survival, and invasion of breast cancer cells. Here, we used an RNA interference (RNAi) RT-PCR screen to uncover several splicing proteins that regulate the inclusion of exon 2, several of which we found to be misregulated in a panel of breast cancer cell lines and patient tumours. These findings confirmed that the inclusion of PRMT1 exon 2 was regulated by alternative splicing via splicing factors that are altered in breast cancer. Moreover, depletion of one of these splicing factors, RALY, resulted in a decrease in the motility and invasive potential of an aggressive breast cancer cell line. These three manuscripts represent a collection of work focused on elucidating the mechanisms involved in post-transcriptional misregulation of RNA in three diverse human diseases. Taken together, the data presented here highlight the broad impact that proteins, such as Stau1 and CARM1, can have in neuromuscular disorders. Moreover, we also uncovered novel misregulation of splicing proteins that alter alternative splicing patterns in breast cancer. Elucidating these mechanisms is of the highest importance in order to identify potential new and effective treatment avenues.

Transcription Regulation Models and Their Application to Human Disease Research

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Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (782 download)

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Book Synopsis Transcription Regulation Models and Their Application to Human Disease Research by : Noa Novershtern

Download or read book Transcription Regulation Models and Their Application to Human Disease Research written by Noa Novershtern and published by . This book was released on 2011 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Transcriptional Control of Neural Crest Development

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Publisher : Morgan & Claypool Publishers
ISBN 13 : 161504048X
Total Pages : 227 pages
Book Rating : 4.6/5 (15 download)

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Book Synopsis Transcriptional Control of Neural Crest Development by : Brian L. Nelms

Download or read book Transcriptional Control of Neural Crest Development written by Brian L. Nelms and published by Morgan & Claypool Publishers. This book was released on 2010 with total page 227 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neural crest is a remarkable embryonic population of cells found only in vertebrates and has the potential to give rise to many different cell types contributing throughout the body. These derivatives range from the mesenchymal bone and cartilage comprising the facial skeleton, to neuronal derivatives of the peripheral sensory and autonomic nervous systems, to melanocytes throughout the body, and to smooth muscle of the great arteries of the heart. For these cells to correctly progress from an unspecifi ed, nonmigratory population to a wide array of dynamic, differentiated cell types-some of which retain stem cell characteristics presumably to replenish these derivatives-requires a complex network of molecular switches to control the gene programs giving these cells their defi ning structural, enzymatic, migratory, and signaling capacities. This review will bring together current knowledge of neural crest-specifi c transcription factors governing these progressions throughout the course of development. A more thorough understanding of the mechanisms of transcriptional control in differentiation will aid in strategies designed to push undifferentiated cells toward a particular lineage, and unraveling these processes will help toward reprogramming cells from a differentiated to a more naive state. Table of Contents: Introduction / AP Genes / bHLH Genes / ETS Genes / Fox Genes / Homeobox Genes / Hox Genes / Lim Genes / Pax Genes / POU Domain Genes / RAR/RXR Genes / Smad Genes / Sox Genes / Zinc Finger Genes / Other Miscellaneous Genes / References / Author Biographies

Gene Regulation in Eukaryotes

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Publisher : Wiley-Blackwell
ISBN 13 :
Total Pages : 452 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Gene Regulation in Eukaryotes by : Edgar Wingender

Download or read book Gene Regulation in Eukaryotes written by Edgar Wingender and published by Wiley-Blackwell. This book was released on 1993 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: A much-needed guide through the overwhelming amount of literature in the field. Comprehensive and detailed, this book combines background information with the most recentinsights. It introduces current concepts, emphasizing the transcriptional control of genetic information. Moreover, it links data on the structure of regulatory proteins with basic cellular processes. Both advanced students and experts will find answers to such intriguing questions as: - How are programs of specific gene repertoires activated and controlled? - Which genes drive and control morphogenesis? - Which genes govern tissue-specific tasks? - How do hormones control gene expression in coordinating the activities of different tissues? An abundant number of clearly presented glossary terms facilitates understanding of the biological background. Speacial feature: over 2200 (!) literature references.

Transcriptional Regulation in Cancers and Metabolic Diseases

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Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (136 download)

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Book Synopsis Transcriptional Regulation in Cancers and Metabolic Diseases by :

Download or read book Transcriptional Regulation in Cancers and Metabolic Diseases written by and published by . This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The transcription factor (TF) mediated regulation of gene expression is a process fundamental to all biological and physiological processes. Genetic changes and epigenetic modifications of TFs affect target gene expression during the formation of malignant cells. Extensive work has been done on the critical TFs in various disease models. Despite the success of numerous TF-targeted therapies, there remain significant hurdles understanding the mechanisms, transcriptional targets and networks of physiologic pathways that govern TF action. This effort is now beginning to produce exciting new avenues of research. A clinically relevant topic for genetic change of TF is the mutant isoforms of p53, the most famous tumor suppressor. The p53 mutations either results in loss of function, or acting as dominant negative for wild-type protein, or 'gain of function' specifically promoting cancer survival. The gain of function is achieved by shifting p53 binding partner proteins, or changed genomic binding landscape leading to a cancer-promoting transcriptome. Another example of genetic change of TF causing malignancy is the AML-ETO fusion protein in the human t(8;21)-leukemia. The fusion protein is an active TF, and more interestingly, new studies link the disease causing role of AML-ETO to the unique transcriptome in the hematopoietic stem cells. Nuclear receptors (NR) are a group of ligand-dependent TFs governing the expression of genes involved in a broad range of reproductive, developmental and metabolic programs. Genetic changes and epigenetic modifications of NRs lead to cancers and metabolic diseases. Androgen receptor (AR), estrogen receptor (ER) and progesterone receptor (PR) are well studied NRs in prostate, breast and endometrial cancers. The development in sequencing technology and computational genomics enable us to investigate the transcription programs of these master TFs in an unprecedented level. This Research Topic aims to present the most up-to-date progress in the field of transcription regulation in cancers and metabolic diseases.

Gene Network Inference

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Publisher : Springer Science & Business Media
ISBN 13 : 3642451616
Total Pages : 135 pages
Book Rating : 4.6/5 (424 download)

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Book Synopsis Gene Network Inference by : Alberto Fuente

Download or read book Gene Network Inference written by Alberto Fuente and published by Springer Science & Business Media. This book was released on 2014-01-03 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents recent methods for Systems Genetics (SG) data analysis, applying them to a suite of simulated SG benchmark datasets. Each of the chapter authors received the same datasets to evaluate the performance of their method to better understand which algorithms are most useful for obtaining reliable models from SG datasets. The knowledge gained from this benchmarking study will ultimately allow these algorithms to be used with confidence for SG studies e.g. of complex human diseases or food crop improvement. The book is primarily intended for researchers with a background in the life sciences, not for computer scientists or statisticians.