Alternative Splicing and Disease

Alternative Splicing and Disease PDF Author: Philippe Jeanteur
Publisher: Springer Science & Business Media
ISBN: 3540344497
Category : Science
Languages : en
Pages : 265

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Book Description
Splicing of primary RNA transcript is a quasi-systematic step of gene expression in higher organisms. This is the first book to highlight the medical implications, i.e. diseases, caused by alternative splicing. Alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences. The book also outlines possible targets for therapy.

Alternative Splicing and Disease

Alternative Splicing and Disease PDF Author: Philippe Jeanteur
Publisher: Springer Science & Business Media
ISBN: 3540344497
Category : Science
Languages : en
Pages : 265

Get Book Here

Book Description
Splicing of primary RNA transcript is a quasi-systematic step of gene expression in higher organisms. This is the first book to highlight the medical implications, i.e. diseases, caused by alternative splicing. Alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences. The book also outlines possible targets for therapy.

Alternative Splicing and Cancer

Alternative Splicing and Cancer PDF Author: Muzafar A. Macha
Publisher: CRC Press
ISBN: 1040030688
Category : Science
Languages : en
Pages : 264

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Book Description
This book Alternative Splicing and Cancer explores the crucial role alternative splicing, a post-transcriptional process, plays in human health and diseases, particularly cancer. Diving deep into the complexities of gene expression and protein diversity, the book illuminates how abnormal splicing contributes to aggressive tumor formation, affecting cellular functions such as proliferation, survival, and immune evasion. With a focus on understanding molecular mechanisms, this book unravels potential diagnostic and prognostic targets, opening doors for enhanced anti-cancer treatment efficacy. An indispensable resource for anyone intrigued by the interplay between gene splicing and cancer biology, it paves the way towards innovative therapeutic strategies.

Alzheimer’s and Parkinson’s Diseases

Alzheimer’s and Parkinson’s Diseases PDF Author: Israel Hanin
Publisher: Springer Science & Business Media
ISBN: 1475791453
Category : Medical
Languages : en
Pages : 690

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Book Description
This book represents the third in a series of International Conferences related to Alzheimer's (AD) and Parkinson's (PD) diseases. The first one took place in Eilat, Israel, in 1985; and the second one in Kyoto, Japan, in 1989. This book contains the full text of oral and poster presentations from the Third International Conference on Alzheimer's and Parkinson's Diseases: Recent Developments, held in Chicago, Illinois, U.S.A. on November 1-6, 1993. The Chicago Conference was attended by 270 participants. The Scientific Program was divided into nine oral sessions, a keynote presentation, and a poster session. The conference culminated in a Round Table Discussion involving all of the participants in the conference. The four and one-half day meeting served as an excellent medium for surveying the current status of clinical and preclinical developments in AD and PD. There were 59 oral presentations and 93 posters. This book incorporates a majority of both.

RNA Splicing and Backsplicing: Disease and Therapy

RNA Splicing and Backsplicing: Disease and Therapy PDF Author: Rosanna Asselta
Publisher: Frontiers Media SA
ISBN: 2889662357
Category : Science
Languages : en
Pages : 197

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Book Description
This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

Alternative Splicing in Brain Function

Alternative Splicing in Brain Function PDF Author: Kif Liakath-Ali
Publisher: Frontiers Media SA
ISBN: 2832540732
Category : Science
Languages : en
Pages : 171

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Book Description
Functional and structural intricacies of biological systems emerge from the complex nature of the genome. A key aspect of genome complexity can be attributed to the process of alternative splicing of precursor mRNA (or pre-mRNA), during which introns are removed and exons are selectively spliced together. This highly regulated process generates different mature mRNA transcripts from a single gene and is widespread throughout the eukaryotic evolution. The majority of the genes expressed in the mammalian central nervous system undergo extensive alternative splicing. Some genes can generate more than a thousand isoforms resulting in diverse proteoforms that can differ in their function, binding preference, catalytic activity, and localization. Perturbation in alternative splicing has been linked to many neurological disorders. Despite its significance, we still lack a comprehensive understanding of its role in neuronal function. Recent studies suggest that alternative splicing is a regulator of tissue identity and development. This is particularly relevant to the brain where developmental regulation and heterogenous cell population play a crucial role in shaping its function. For a long time, technological limitations in detecting and measuring alternatively spliced transcripts hindered the progress in understanding the biology of alternative splicing. Recent advances in long-read and native mRNA sequencing and robust computational tools allow us to capture and quantify in their full-length form. Public transcriptomics datasets can be utilized for the meta-analysis of alternative splicing landscapes of various experimental conditions and disease samples. In addition, protein isoform detection complements mRNA isoform levels. Given its biological significance and recent advances, the objective of this Research Topic is to assemble current knowledge, views, and challenges in the studies of alternative splicing in brain function.

Alternative Splicing in the Postgenomic Era

Alternative Splicing in the Postgenomic Era PDF Author: Benjamin J. Blencowe
Publisher: Springer Science & Business Media
ISBN: 9780387773735
Category : Medical
Languages : en
Pages : 260

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Book Description
Yet again Springer has reached the market before everyone. This is the first book that is solely dedicated to the topic of alternative splicing. The book contains chapters by experts in the field that cover nearly all aspects of this hugely important subject. The purpose of the text is to provide a single, authoritative source of information on alternative splicing that is accessible to researchers in diverse fields. It is suitable for beginners and experts alike.

Tropomyosin

Tropomyosin PDF Author: Peter Gunning
Publisher: Springer Science & Business Media
ISBN: 0387857664
Category : Medical
Languages : en
Pages : 323

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Book Description
A recent review of one of my grant applications commented on the ‘rediscovery of tropomyosin’. I was tempted to write back in my rebuttal to the reviewer that I didn’t realise it had been lost. Uncharacteristic maturity prevailed and I resisted the temptation, but I was struck by the underlying observation that research on the str- ture and function of tropomyosin has been somewhat invisible, particularly in terms of the cytoskeleton isoforms. So, how can it be that one of the two major components of the actin filament has been so thoroughly overlooked? I suspect that the answer is disappointingly pedestrian. Whereas the biochemistry of the 1980s revealed the potential of tropomyosin isoforms to diversify the function of actin filaments, the subsequent disenchantment with isoform biology in general in the 1990s inhibited growth of this field. With the development of more sophisticated experimental - proaches we are now seeing a growing realisation of the importance of tropomyosin in regulating actin filaments beyond its pivotal role in muscle contraction. The opportunity to edit this book came at a time when we had written several reviews on different aspects of tropomyosin function and I had just finished the background reading for a comprehensive review of tropomyosin biology. I realised that the field was simply beyond the capacity of any one person to do the field j- tice.

Molecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension

Molecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension PDF Author: Toshio Nakanishi
Publisher: Springer Nature
ISBN: 9811511853
Category : Medical
Languages : en
Pages : 374

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Book Description
This open access book focuses on the molecular mechanism of congenital heart disease and pulmonary hypertension, offering new insights into the development of pulmonary circulation and the ductus arteriosus. It describes in detail the molecular mechanisms involved in the development and morphogenesis of the heart, lungs and ductus arteriosus, covering a range of topics such as gene functions, growth factors, transcription factors and cellular interactions, as well as stem cell engineering technologies. The book also presents recent advances in our understanding of the molecular mechanism of lung development, pulmonary hypertension and molecular regulation of the ductus arteriosus. As such, it is an ideal resource for physicians, scientists and investigators interested in the latest findings on the origins of congenital heart disease and potential future therapies involving pulmonary circulation/hypertension and the ductus arteriosus.

Regulation of Alternative Splicing

Regulation of Alternative Splicing PDF Author: Philippe Jeanteur
Publisher: Springer Science & Business Media
ISBN: 9783540438335
Category : Science
Languages : en
Pages : 272

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Book Description
The discovery in 1977 that genes are split into exons and introns has done away with the one gene - one protein dogma. Indeed, the removal of introns from the primary RNA transcript is not necessarily straightforward since there may be optional pathways leading to different messenger RNAs and consequently to different proteins. Examples of such an alternative splicing mechanism cover all fields of biology. Moreover, there are plenty of occurrences where deviant splicing can have pathological effects. Despite the high number of specific cases of alternative splicing, it was not until recently that the generality and extent of this phenomenon was fully appreciated. A superficial reading of the preliminary sequence of the human genome published in 2001 led to the surprising, and even deceiving to many scientists, low number of genes (around 32,000) which contrasted with the much higher figure around 150,000 which was previously envisioned. Attempts to make a global assessment of the use of alternative splicing are recent and rely essentially on the comparison of genomic mRNA and EST sequences as reviewed by Thanaraj and Stamm in the first chapter of this volume. Most recent estimates suggest that 40-60% of human genes might be alternatively spliced, as opposed to about 22% for C. elegans.

Bioinformatics in the Era of Post Genomics and Big Data

Bioinformatics in the Era of Post Genomics and Big Data PDF Author: Ibrokhim Y. Abdurakhmonov
Publisher: BoD – Books on Demand
ISBN: 1789232686
Category : Medical
Languages : en
Pages : 190

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Book Description
Bioinformatics has evolved significantly in the era of post genomics and big data. Huge advancements were made toward storing, handling, mining, comparing, extracting, clustering and analysis as well as visualization of big macromolecular data using novel computational approaches, machine and deep learning methods, and web-based server tools. There are extensively ongoing world-wide efforts to build the resources for regional hosting, organized and structured access and improving the pre-existing bioinformatics tools to efficiently and meaningfully analyze day-to-day increasing big data. This book intends to provide the reader with updates and progress on genomic data analysis, data modeling and network-based system tools.