The Human Genome : (Record no. 61141)
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| fixed length control field | 09525nam a22005173i 4500 |
| 001 - CONTROL NUMBER | |
| control field | EBC3020955 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | MiAaPQ |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240729124146.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS | |
| fixed length control field | m o d | |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr cnu|||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 240724s2009 xx o ||||0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781617285936 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 9781607416951 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (MiAaPQ)EBC3020955 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (Au-PeEL)EBL3020955 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (CaPaEBR)ebr10681093 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (OCoLC)841169023 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | MiAaPQ |
| Language of cataloging | eng |
| Description conventions | rda |
| -- | pn |
| Transcribing agency | MiAaPQ |
| Modifying agency | MiAaPQ |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RB155 -- .H8475 2009eb |
| 082 0# - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616/.042 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Matsumoto, Akio. |
| 245 14 - TITLE STATEMENT | |
| Title | The Human Genome : |
| Remainder of title | Features, Variations and Genetic Disorders. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Hauppauge : |
| Name of producer, publisher, distributor, manufacturer | Nova Science Publishers, Incorporated, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2009. |
| 264 #4 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | ©2009. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (343 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 |
| 490 1# - SERIES STATEMENT | |
| Series statement | Genetics - Research and Issues |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Intro -- THE HUMAN GENOME: FEATURES,VARIATIONS AND GENETIC DISORDERS -- Contents -- Preface -- CpG Islands in the Human Genome:Identification, Features, Mutationsand Diseases -- Abstract -- Introduction -- Identification of CGIs and Methylation -- Computational Algorithms for Identification of CGIs -- Mapping and Prediction of Methylation Status Using CGIs -- Features, Mutation Patterns and Evolution of CGIs -- Distribution and Features of CGIs in the Human Genome -- Recombination Rate and CGIs -- Gene Expression and CGIs -- Isochores and Mutation Patterns in CGIs -- Molecular Evolution of CGIs -- Methylation Status of CGIs and Diseases -- Conclusions -- Acknowledgements -- References -- The Sex Chromosomes: Sequence,Evolution and Human Diseases -- Abstract -- Introduction -- The Sequences of the Human Sex Chromosomes -- The X chromosome sequence -- The Y chromosome sequence -- Origin and Evolution of Human Sex Chromosomes -- Sex-determination system -- Human sex chromosomes -- Evolution of human sex chromosomes -- Pseudoautosomal regions of sex chromosomes -- The X chromosome inactivation -- Sex Chromosomes and Disease -- Sex chromosome aneuploidy -- Turner syndrome and partial monosomies -- X-linked premature ovarian failure: a complex disease -- X-linked mental retardation: many genes for a complex disorder -- NEMO and incontinentia pigmenti disease -- X-linked Eye Disorders -- Color blindness -- X-linked retinitis pigmentosa (XLRP) -- X-linked retinoschisis (XLRS) -- Choroideremia -- Conclusion -- References -- Role of Extrachromosomal Elements inHL-60 Human Leukemia Cells -- Abstract -- Introduction -- Large Extrachromosomal Elements (LEEs) -- Structure of LEEs and DMINs -- Genes Encoded on the Amplicon -- Stability of LEEs -- Application of LEEs as Vectors forCancer Gene Therapy -- Conclusions -- References. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Molecular Basis ofHuman Coagulopathies -- Abstract -- Introduction -- Historical aspects of blood coagulation -- Recent technological advances in biotechnology -- Molecular basis of bleeding disorders -- Scope of review -- X-Linked Coagulopathies - The CommonHemorrhagic Disorders -- Hemophilia A -- Hemophilia B -- von Willebrand Disease -- Autosomal Recessive Coagulopathies - The RareCoagulation Disorders -- Prothrombin -- Tissue Factor -- Factor V -- Factor VII -- Factor X -- Factor XI -- Factor XIII -- Fibrinogen -- Multiple Deficiencies -- Combined FV/VIII deficiency -- Vitamin K dependant coagulation factor deficiencies -- Advances in DNA Sequence Analysis - TowardsPersonalized Medicine -- Diagnosis and Treatment of Coagulopathiesin the Post-Genomic Era -- Conclusion -- References -- Itinerant Genome -- Abstract -- 1. Introduction -- 2. Mammalian Genomes -- 3. Classification of Mutational Changes -- 4. Information Content of the Human Genome -- 5. Molecular Evolution as the Information Channel -- 6. Analyses of the Genomic changes through theAnalyses of the Dinucleotide Replacements -- Acknowledgement -- References -- Wobble Splicing: Subtle AlternativeSplicing at Tandem Splice Sites inHuman Genome -- Abstract -- Overview -- Splicing and Traditional Alternative Splicing -- Wobble Splicing -- Wobble Splicing Increase Protein Diversity -- Mechanism of Wobble Splicing -- Wobble Splicing Indiscriminately Selects at Tandem Motif -- Wobble Splicing Occurred Frequently at short-distance Tandem SpliceSites -- Concluding Remarks -- References -- Alternative Splicing TranscriptsAffected by Junction Tandem Repeatsin the Human Genome -- Abstract -- Introdcution -- Alternative Splicing in Transcription -- Wobble Splicing at Tandem Splice Site Sequences -- Results -- Tandem Repeats in Wobble Splicing Generation. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Alternative Wobble Splice Site Selection in J-TRs -- References -- Genetic Susceptibility to ComplexTraits: Moving Towards InformedAnalysis of Whole-Genome Screens -- Abstract -- Introduction -- Evolution of Genome-Wide Approaches forDetermining Susceptibility -- Genetic Susceptibility to Non-Hodgkin'sLymphoma -- Variants within DNA Repair Genes -- Variants within Folate Related Genes -- Immune Related Gene Variants -- Inconsistencies in Previous Associations -- Informed Analysis of Genome-Wide SNPMicroarray Data -- Methodology for Informed Analysis ofGenome-Wide Susceptibility Screens -- Results of Pilot Study into NHL Susceptibility -- Conclusion -- References -- The Personal Genome: Science andBeyond -- Abstract -- Introduction -- Science and Technology -- Array-Based Technology -- Next-Generation Sequencing -- Third Generation Sequencing -- Systems Biology -- Structural Variants and CNVs -- The International 1000 Genomes Project -- Applications -- Personal Ancestry -- Personal Disease Risk Estimation -- Translational Preventive Medicine -- Pharmacogenomics -- Concerns -- Data Storage -- Toward Personal Genome Sequencing -- Conclusion -- References -- Unstable Repeat Expansion andHuman Disease -- Abstract -- Introduction -- Mechanisms of Repeat Expansion -- Human Diseases Linked to MicrosatelliteExpansion -- Dentatorubropallidoluysian Atrophy (DRPLA) -- Progressive Myoclonus Epilepsy of Unverricht-Lundborg type 1 (EPM1) -- Fragile X Syndrome (FXS) -- Friedreich ataxia (FA) -- Huntington's Disease (HD) -- Myotonic Dystrophy (DM) -- Spinal Bulbar Muscular Atrophy (SBMA) -- Spinocerebellar Ataxias (SCAs) -- Microsatellite Instability as a Hallmark of Cancer -- Potential Therapies in Diseases of UnstableRepeat Expansion -- Conclusion -- Acknowledgements -- References -- SNPs and CNVs in Human Disorders -- Abstract -- Introduction. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | SNPs in Gene Discovery -- Genomic Variation and Drug Metabolizing Genes -- Properties of CNVs -- Conclusion -- Acknowledgement -- References -- An Outlook on Uterine Neoplasms:From Hormonal and DNA Damaging toCervical and Endometrial CancerDevelopment and Minimally InvasiveManagement -- Abstract -- Introduction -- Endometrial Cancer and Hormonal Carcinogenesis -- Endometrial Hyperplasia: A Possible Pre-Cancer -- Minimally Invasive Surgical Treatment of Endometrial Hyperplasia -- Minimally Invasive Surgical Treatment of Endometrial Cancer -- Cervical Tumors and HPV Correlation -- Genomic Detection of HPV by DNA Chips: A New Frontier -- Mechanisms of Pathogenesis of Cervical Tumors by HPV -- Minimally Invasive Surgical Treatment of Benign Cervical Pathologies -- Cervical Cancer and Endoscopic Surgical Treatments -- Cervical Cancer and Vaccine -- Conclusions -- References -- The Perception of an InformationSociety and the Emergence of the FirstComputerized Biological Databases,1948-1992 -- Abstract -- 1. Introduction -- 2. The Early Information Society and the FirstDatabase Efforts in Biology -- 2.1. The Systems Men and Their Utopia -- 2.2. Information enters Biology -- 2.3. Official Skepticism -- 3. Genomics, A New Information Discourseand DNA Databases -- 3.1. Global Markets, Information Technologies and Policies -- 3.2. The Development of the European Database -- 3.3. Genomics and the Rise of Data Gathering -- 4. Conclusion -- Acknowledgements -- References -- Lessons Learned in Human TissueBanking for Acquiring High QualityBiospecimens for TranslationalGenomic Research: A Perspectiveof the IU Simon CancerCenter Tissue/Fluid BioBank -- Abstract -- Bioethics, Biohazard and Safety -- IRB Review -- HIPAA Compliance -- Collection -- Tissue Procurement -- Informed Consent -- Patient Confidentiality -- Banking -- Histology. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | RNA Evaluation on Frozen Tissues -- DNA and RNA Evaluation on Formalin Fixed Paraffin Embedded Tissues -- Conclusions -- References -- The Future of the Human GenomicsResearch: Three UnansweredQuestions -- Abstract -- Acknowledgements -- References -- Index. |
| 588 ## - SOURCE OF DESCRIPTION NOTE | |
| Source of description note | Description based on publisher supplied metadata and other sources. |
| 590 ## - LOCAL NOTE (RLIN) | |
| Local note | Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Medical genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Human genome. |
| 655 #4 - INDEX TERM--GENRE/FORM | |
| Genre/form data or focus term | Electronic books. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nakano, Mai. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Print version: |
| Main entry heading | Matsumoto, Akio |
| Title | The Human Genome: Features, Variations and Genetic Disorders |
| Place, publisher, and date of publication | Hauppauge : Nova Science Publishers, Incorporated,c2009 |
| International Standard Book Number | 9781607416951 |
| 797 2# - LOCAL ADDED ENTRY--CORPORATE NAME (RLIN) | |
| Corporate name or jurisdiction name as entry element | ProQuest (Firm) |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE | |
| Uniform title | Genetics - Research and Issues |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=3020955">https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=3020955</a> |
| Public note | Click to View |
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