MARC details
| 000 -LEADER |
|---|
| fixed length control field |
06556cam a2200745Ii 4500 |
| 001 - CONTROL NUMBER |
|---|
| control field |
ocn942588150 |
| 003 - CONTROL NUMBER IDENTIFIER |
|---|
| control field |
US-DLC |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
|---|
| control field |
20171205143752.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS--GENERAL INFORMATION |
|---|
| fixed length control field |
m d |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
|---|
| fixed length control field |
cr cnu|||unuuu |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
160302s2016 enk ob 001 0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| Cancelled/invalid ISBN |
9780128044698 |
| Qualifying information |
electronic bk. |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| Cancelled/invalid ISBN |
0128044691 |
| Qualifying information |
electronic bk. |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| International Standard Book Number |
9780128044681 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| Cancelled/invalid ISBN |
0128044683 |
| 029 1# - (OCLC) |
|---|
| OCLC library identifier |
GBVCP |
| System control number |
856077038 |
| 035 ## - SYSTEM CONTROL NUMBER |
|---|
| System control number |
(OCoLC)942588150 |
| Canceled/invalid control number |
(OCoLC)944382070 |
| -- |
(OCoLC)945612153 |
| -- |
(OCoLC)957679837 |
| -- |
(OCoLC)957953962 |
| -- |
(OCoLC)958097141 |
| -- |
(OCoLC)958392020 |
| 040 ## - CATALOGING SOURCE |
|---|
| Original cataloging agency |
N$T |
| Language of cataloging |
eng |
| Description conventions |
rda |
| -- |
pn |
| Transcribing agency |
N$T |
| Modifying agency |
IDEBK |
| -- |
N$T |
| -- |
OPELS |
| -- |
OCLCF |
| -- |
YDX |
| -- |
YDXCP |
| -- |
EBLCP |
| -- |
D6H |
| 049 ## - LOCAL HOLDINGS (OCLC) |
|---|
| Holding library |
Alfaisal Main Library |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
|---|
| Classification number |
RB155.5 |
| Item number |
.B45 2016 |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Benhabiles, Hana, |
| Relator term |
author. |
| 245 10 - TITLE STATEMENT |
|---|
| Title |
Nonsense mutation correction in human diseases : |
| Remainder of title |
an approach for targeted medicine / |
| Statement of responsibility, etc |
Hana Benhabiles, Jieshuang Jia, Fabrice Jejeune. |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) |
|---|
| Date of publication, distribution, etc |
2016. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE STATEMENTS |
|---|
| Place of production, publication, distribution, manufacture |
London : |
| Name of producer, publisher, distributor, manufacturer |
Acedemic Press is an imprint of Elsevier, |
| Date of production, publication, distribution, manufacture |
[2016] |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
(ix, 180 pages) |
| 336 ## - CONTENT TYPE |
|---|
| Content Type Term |
text |
| Content Type Code |
txt |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
|---|
| Media Type Term |
computer |
| Media Type Code |
c |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
|---|
| Carrier Type Term |
online resource |
| Carrier Type Code |
cr |
| Source |
rdacarrier |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE |
|---|
| Bibliography, etc |
Includes bibliographical references and index. |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
Cover; Title Page; Copyright Page; Contents; About the Authors; Acknowledgments; Chapter 1 -- General Aspects Related to Nonsense Mutations; 1 -- Premature termination codon, nonsense mutation, and consequences on gene expression; 2 -- Pre-mRNA splicing mechanism; 2.1 -- Generalities; 2.2 -- Categories of Alternative Splicing; 2.3 -- Regulation of Splicing; 2.4 -- Pathologies Associated with Splicing Defaults; 3 -- Nonsense-mediated mRNA decay (NMD) mechanism; 3.1 -- Generalities; 3.2 -- Main proteins involved in NMD; 3.2.1 -- UPF1/RENT1/SMG2; 3.2.2 -- UPF2/RENT2/SMG3; 3.2.3 -- UPF3/UPF3a/Rent3A |
| 505 8# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
3.2.4 -- UPF3X/UPF3b/Rent3B3.2.5 -- Suppressor of Morphogenesis in Genitalia 1 (SMG1)/ATX/Lambda-Iota Protein Kinase C-Interacting Protein (LIP); 3.2.6 -- SMG5/EST1B; 3.2.7 -- SMG6/EST1A/hSmg5/7a; 3.2.8 -- SMG7/EST1C; 3.2.9 -- SMG8/Amplified in Breast Cancer Gene 2 and SMG9; 3.3 -- EJC-Dependent Model; 3.4 -- Model Involving the Distance Between the Stop Codon and the Position of the poly(A) Binding Protein C1; 3.5 -- Natural Substrates of NMD; 3.6 -- Regulation; 3.6.1 -- Autoregulation; 3.6.2 -- Tissue Specificity; 3.6.3 -- Inhibition During Apoptosis; 3.6.4 -- miRNA; 3.6.5 -- Phosphorylation |
| 505 8# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
3.6.6 -- Regulation by Availability of NMD Factors3.7 -- UPF2, UPF3X/UPF3b Independent Pathway; 3.8 -- Pathologies Associated with NMD Defaults; 4 -- Correction of nonsense mutations, a case of targeted therapy; References; Chapter 2 -- Pathologies Susceptible to be Targeted for Nonsense Mutation Therapies; 1 -- Rare diseases; 1.1 -- Duchenne Muscular Dystrophy (DMD); 1.2 -- Cystic Fibrosis (CF); 1.3 -- Spinal Muscular Atrophy; 2 -- Frequent diseases; 2.1 -- Cancers; 2.2 -- Metabolic Diseases; 2.3 -- Neurologic Disorders; References; Chapter 3 -- Strategies to Correct Nonsense Mutations |
| 505 8# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
1 -- The exon skipping1.1 -- Principle; 1.2 -- Examples; 1.3 -- Weaknesses; 2 -- Trans-splicing; 2.1 -- Principle; 2.2 -- An Example of Trans-Splicing Used as Therapeutic Approach for Duchenne Muscular Dystrophy; 2.3 -- Weaknesses; 3 -- PTC-readthrough; 3.1 -- Principle; 3.1.1 -- Aminoglycoside Molecules; 3.1.2 -- Nonaminoglycoside Molecules; 3.2 -- Weaknesses; 4 -- NMD inhibition; 4.1 -- Principle; 4.2 -- Examples; 4.3 -- Weaknesses; 5 -- Pseudouridylation at the PTC; 5.1 -- Principle; 5.2 -- Weaknesses; 6 -- Gene therapy; 6.1 -- Principle; 6.2 -- Weaknesses; 7 -- Cell therapy; 7.1 -- Principle; 7.2 -- Weaknesses |
| 505 8# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
8 -- Genome editing8.1 -- Zinc Finger Nucleases; 8.1.1 -- Weaknesses; 8.2 -- Transcription Activator-Like Effector Nucleases; 8.2.1 -- Weaknesses; 8.3 -- CRISPR/Cas9; 8.3.1 -- Illustration; 8.3.2 -- Weaknesses; 9 -- Combinatory approaches to improve nonsense mutation therapies; 9.1 -- Activation of Both Transcription and Readthrough; 9.2 -- Inhibition of NMD and Activation of Readthrough; 9.3 -- Gene Therapy/Genome Editing/Pseudouridylation at the PTC and Cell Therapy; References; Chapter 4 -- Conclusions; 1 -- Summary on the different strategies and their results |
| 505 8# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
2 -- Personalized/targeted medicine versus traditional medicine |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc |
Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD). It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine. |
| 590 ## - LOCAL NOTE (RLIN) |
|---|
| Local note |
Elsevier |
| Provenance (VM) [OBSOLETE] |
ScienceDirect All Books |
| 590 ## - LOCAL NOTE (RLIN) |
|---|
| Local note |
OCLC |
| Provenance (VM) [OBSOLETE] |
WorldCat Holdings |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Genetic disorders. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Mutation (Biology) |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
HEALTH & FITNESS / Diseases / General |
| Source of heading or term |
bisacsh |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
MEDICAL / Clinical Medicine |
| Source of heading or term |
bisacsh |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
MEDICAL / Diseases |
| Source of heading or term |
bisacsh |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
MEDICAL / Evidence-Based Medicine |
| Source of heading or term |
bisacsh |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
MEDICAL / Internal Medicine |
| Source of heading or term |
bisacsh |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Genetic disorders. |
| Source of heading or term |
fast |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Mutation (Biology) |
| Source of heading or term |
fast |
| 650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Genetic Diseases, Inborn. |
| 655 #0 - INDEX TERM--GENRE/FORM |
|---|
| Genre/form data or focus term |
Print books. |
| Source of term |
local |
| 9 (RLIN) |
4 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Jia, Jieshuang, |
| Relator term |
author. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Lejeune, Fabrice, |
| Relator term |
author. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Qualifying information |
Original |
| International Standard Book Number |
9780128044681 |
| -- |
0128044683 |
| Record control number |
(OCoLC)946815702 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
Library of Congress Classification |
| Koha item type |
BOOKS |
