Alternative Splicing and Disease

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 and Disease

Author: Philippe Jeanteur

Publisher: Springer Science & Business Media

ISBN: 3540344497

Page: 257

View: 837

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 Pre mRNA Splicing

This book was written for graduate and medical students, as well as clinicians and postdoctoral researchers.

Alternative Pre mRNA Splicing

Author: Stefan Stamm

Publisher: John Wiley & Sons

ISBN: 3527326065

Page: 622

View: 794

This book was written for graduate and medical students, as well as clinicians and postdoctoral researchers. It describes the theory of alternative pre-mRNA splicing in twelve introductory chapters and then introduces protocols and their theoretical background relevant for experimental research. These 43 practical chapters cover: Basic methods, Detection of splicing events, Analysis of alternative pre-mRNA splicing in vitro and in vivo, Manipulation of splicing events, and Bioinformatic analysis of alternative splicing. A theoretical introduction and practical guide for molecular biologists, geneticists,clinicians and every researcher interested in alternative splicing. Website: www.wiley-vch.de/home/splicing

Index Medicus

Circ Correlation between expression of CD44 splice variant v8 - v9 and
METABOLISM Res . 2004 Apr 2 ; 94 ( 6 ) ... Ross River virus disease in Australia ,
1886-1998 , with analysis of Alternative splicing in disease and therapy . Garcia -
Blanco ...

Index Medicus

Author:

Publisher:

ISBN:

Page:

View: 727

Encyclopedia of Endocrine Diseases A D

Thus , point mutations may cause disease by disrupting splicing regulatory
elements . The best described example of a disease caused by disruption of
alternative splicing is myotonic dystrophy ( DM1 ) and insulin resistance . DM1 is
caused ...

Encyclopedia of Endocrine Diseases  A D

Author: Luciano Martini

Publisher: Academic Press

ISBN: 9780124755710

Page: 2400

View: 279

The Encyclopedia of Endocrine Diseases is an authoritative reference developed by 16 international experts who recruited the world's top scientists for contributions. This stellar reference work focuses on nearly 500 endocrine diseases addressing everything from acromeglay, diabetes, hypertension, osteoporosis, thyroid disease, Von Hippel-Lindau Disease, unexplained weight loss, to androgen related disorders. This encyclopedia is an essential addition to any library collection written to be accessible for both the clinical and non-clinical reader. Associate Editors include: Eli Y. Adashi, John P. Bilezikian, George P. Chrousos, Junichi Fukata, Julianne Imperato-McGinley, Hiroo Imura, Antonio Liuzzi, Frank L. Moore, Daniel Porte, Jens F. Rehfeld, Ellis Samols, Gustav Schonfeld, Pierre C. Sizonenko, Wilmar M. Wiersinga. Also available online via ScienceDirect featuring extensive browsing, searching, and internal cross-referencing between articles in the work, plus dynamic linking to journal articles and abstract databases, making navigation flexible and easy. For more information, pricing options and availability visit www.info.sciencedirect.com. * Includes nearly 500 entries addressing all aspects of endocrine diseases * More than 800 eminent researchers contributed from 25 different countries around the world * More than 900 figures and 450 tables displayed * Comprehensive glossary comprising 1500 definitions * The Editor-in-Chief is former editor of the journal Frontiers in Neuroendocrinology and has contributed to over 40 books in the field of endocrinology.

Wiley Encyclopedia of Molecular Medicine Volume 1

There are also cases of “ alternativeSR protein family , several hnRNPs (
heterogeneous nuclear splicing disorders ” where misregulation of alternative
splicing riboneucleoproteins ) play important roles as positive and causes
disease .

Wiley Encyclopedia of Molecular Medicine  Volume 1

Author: Wiley

Publisher: Wiley-Interscience

ISBN: 9780471374978

Page: 3699

View: 864

RNA Diseases in Humans From Fundamental Research to Therapeutic Applications

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 Diseases in Humans     From Fundamental Research to Therapeutic Applications

Author: Naoyuki Kataoka

Publisher: Frontiers Media SA

ISBN: 2889630978

Page:

View: 784

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.

Pacific Symposium on Biocomputing

Additionally , alternative splicing of a single gene sometimes produces
functionally distinct proteins within the same tissue and , in some cases , gene
isoforms have been associated with human diseases . Alternative splicing is an
important ...

Pacific Symposium on Biocomputing

Author:

Publisher:

ISBN:

Page:

View: 493

Methods and Techniques in Drug Discovery

Implications in Disease and Drug Response In a cell ' s normal state , there is an
appropriate balance between differentiation , proliferation , and apoptosis
modulated by transcription and RNA splicing . If a cell ' s alternative - splicing ...

Methods and Techniques in Drug Discovery

Author: John Sterling

Publisher:

ISBN:

Page: 266

View: 490

Discovery and Detection of Alternative Splicing

Separating the cDNAs that are the result of mis - splicing , disease , and
experimental noise from those that are biologically functional is a difficult problem
( see Chapter 1 for further discussion ) . Recently , researchers have begun to
use ...

Discovery and Detection of Alternative Splicing

Author: Charles W. Sugnet

Publisher:

ISBN:

Page: 264

View: 566

The Molecular Biology of Neurological Disease

The tropomyosins exist as distinct muscle and non - muscle isoforms which are
generated by distinct and separate genes , as well as by alternative splicing
mechanisms ( MacLeod et al . , 1985 ) . In addition to the differential expression
of ...

The Molecular Biology of Neurological Disease

Author: Roger N. Rosenberg

Publisher: Butterworth-Heinemann

ISBN:

Page: 263

View: 883

The Molecular Biology of Neurological Disease reviews advances that have been made in understanding the molecular mechanisms of neurological disorders as well as immediate and future applications of molecular biological techniques to clinical practice. This book explores the molecular genetics of neurological disease such as muscular dystrophy, Joseph disease, and Huntington's disease, along with the mitochondrial genes implicated in such conditions. This text is comprised of 18 chapters and begins by introducing the reader to the basic principles and methods of molecular genetic techniques us ...

Huntington s Disease

the brain , probably due to alternative splicing of the transcript ( Huntington ' s
Disease Collaborative Research Group , 1993 ; Strong et al . , 1993 ; Barnes et al
. , 1994 ; Lin et al . , 1994 ; Schmitt et al . , 1995 ) , and the Fugu gene is predicted
 ...

Huntington s Disease

Author: Peter S. Harper

Publisher: Bailliere Tindall

ISBN:

Page: 438

View: 778

Huntington's disease is a genetic disorder characterized by involuntary movements and mental deterioration resulting from widespread degenerative changes, particularly in the basal ganglia and cerebral cortex. Since the publication of the widely acclaimed First Edition of Peter Harper's book, the isolation of the gene has revolutionized our understanding of the disease. All the new work and its implications for management of the disorder are included in this state-of-the-art monograph. The strengths of the First Edition are retained, thus the book keeps its comprehensive multidisciplinary coverage of clinical neurology, molecular biology, neurobiology, psychiatric aspects and genetic counselling.

Telomerase Aging and Disease

Alternative splicing of TERT mRNA Adding to the complex regulation of hТERT
gene transcription , several alternative splicing variants of hТERT mRNA have
been shown in various tissues and cell lines [ 24 , 81 , 91 , 142 , 143 ] .

Telomerase  Aging and Disease

Author: M.P. Mattson

Publisher: Elsevier Science Limited

ISBN:

Page: 231

View: 772

This volume of Advances in Cell Aging and Gerontology critically reviews the rapidly advancing area of telomerase research with a focus at the molecular and cellular levels. The clearly established function of telomerase is to maintain chromosome ends during successive rounds of cell division by adding a six base DNA repeat on to the telomeric ends of chromosomes. As presented in the chapters of this volume, the mechanisms that regulate telomerase expression and activity are complex. Moreover, emerging data suggest additional roles for telomerase in the regulation of cell differentiation and survival. It is expected that this quite comprehensive volume will provide a valuable resource for graduate students and postdocs in the telomerase field and for established investigators in other fields who are beginning to study telomerase in their particular research program. With an increasing number of proteins being brought into the fold of telomerase research (e.g., DNA damage and repair response proteins, heat-shock proteins, and proteins in various signal transduction cascades) many new scientists are beginning to study this enzyme from novel vantage points.

Encyclopedia of Endocrine Diseases

... disease , 1 : 179 mechanism , 1 : 173 Splicing enhancers , alternative splicing ,
1 : 174 175 Splicing errors , in 17a - hydroxylase / 17 , 20lyase deficiency , 2 :
494 Splicing mutations , steroid 21 - hydroxylase deficiency , 2 : 487 - 488
Splicing ...

Encyclopedia of Endocrine Diseases

Author: Luciano Martini

Publisher: Academic Press

ISBN: 9780124755741

Page: 2400

View: 800

The Encyclopedia of Endocrine Diseases is an authoritative reference developed by 16 international experts who recruited the world's top scientists for contributions. This stellar reference work focuses on nearly 500 endocrine diseases addressing everything from acromeglay, diabetes, hypertension, osteoporosis, thyroid disease, Von Hippel-Lindau Disease, unexplained weight loss, to androgen related disorders. This encyclopedia is an essential addition to any library collection written to be accessible for both the clinical and non-clinical reader. Associate Editors include: Eli Y. Adashi, John P. Bilezikian, George P. Chrousos, Junichi Fukata, Julianne Imperato-McGinley, Hiroo Imura, Antonio Liuzzi, Frank L. Moore, Daniel Porte, Jens F. Rehfeld, Ellis Samols, Gustav Schonfeld, Pierre C. Sizonenko, Wilmar M. Wiersinga. Also available online via ScienceDirect featuring extensive browsing, searching, and internal cross-referencing between articles in the work, plus dynamic linking to journal articles and abstract databases, making navigation flexible and easy. For more information, pricing options and availability visit www.info.sciencedirect.com. * Includes nearly 500 entries addressing all aspects of endocrine diseases * More than 800 eminent researchers contributed from 25 different countries around the world * More than 900 figures and 450 tables displayed * Comprehensive glossary comprising 1500 definitions * The Editor-in-Chief is former editor of the journal Frontiers in Neuroendocrinology and has contributed to over 40 books in the field of endocrinology.