Translational research in genetics and genomics:
Saved in:
| Main Author: | |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Oxford [u.a.]
Oxford Univ. Press
2008
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| Subjects: | |
| Online Access: | Klappentext Inhaltsverzeichnis |
| Physical Description: | XIV, 220 S. |
| ISBN: | 9780195313765 0195313763 |
Staff View
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Record in the Search Index
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| adam_text | This book is driven by the substantial
gap that exists between discoveries in
medical genetics and genomics at basic
science levels and translation of these
discoveries to clinical practice.
Translational Research in Genetics
and Genomics reviews all the recent
information on progress in the
translation of research in genetics
and genomics to the diagnosis and
treatment of single gene disorders and
genetically complex disorders.
Availability of
DNA
sequence
information and extensive resources
for the analysis of individual variation
have led to successes in association
studies. Several chapters are devoted
to review of studies that have led to
identification of genes and pathways
that play a role in susceptibility to a
number of complex common diseases,
including
macular
degeneration,
inflammatory bowel disease, and
specific
neurodegenerative
diseases.
Also reviewed are aspects of
progress in analysis of gene structure
that have revealed that large scale
structural variations also contribute to
individual genetic variation and may
play a role in disease susceptibility.
Therapeutic advances in treatment
of single gene disorders that are
presented include identification
of agents that impact mutations
responsible for aberrant gene splicing
and introduction of premature
termination
codons.
Dramatic progress
has been made in identification of
agents that serve to stabilize unstable
or incorrectly folded proteins. These
agents include molecular chaperones,
which are discussed in the context of
single gene disorders and cancer. Gene
environment interactions, including
conditions conducive to generation of
reactive oxygen species, and to
DNA
damage, are discussed. In a chapter
on cancer, progress in analysis of gene
expression, gene mutation, and gene
rearrangements and their relevance to
development of specific therapies are
presented. The final chapter is devoted
to aspects of analysis of the phenotype
and the provision of clinical services in
various countries.
Moyra Smith, MD, is Professor
Emeritus of Human Genetics at the
University of California, Irvine. She
is also author of the book. Mental
Retardation and Detvlopmental Delay,
Oxford University Press,
2005.
CONTENTS
1. Isolation of Disease Genes Through Genomics, 3
2. Advances in Genome Analysis: Discovery of Structural Variation
and Genomic Dosage Differences in Health and Disease, 21
3. Significance of DNA Sequence Changes for Diagnosis
and Therapy, 36
4. Epigenetics, 56
5. Complex Diseases: Molecular Genetic Contributions
to Elucidation of Etiopathogenesis of Late-Onset
Neurodegenerative Diseases, 63
6. Advances in Treatment of Single Gene Disorders Through
Translational Science: Treatment With Small Molecules
(Chaperones) and Gene-Based Therapies, 95
7. From Gene Discovery in Genetic Syndromes to Identification
of Therapeutic Agents, 108
8. Impact of the Environment on the Genome, 118
9. Molecular Defects in Cancer: Application to Therapy, 127
xiii
i
I
xiv Contents
10. Pharmacogenetics and Pharmacogenomics, 154
11. Phenomes, Phenotypes, and Clinical Genetic Services, 166
References, 179
Index, 207
|
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| dewey-ones | 616 - Diseases |
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| dewey-sort | 3616 242 |
| dewey-tens | 610 - Medicine and health |
| discipline | Biologie Medizin |
| format | Book |
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| id | DE-604.BV035304971 |
| illustrated | Not Illustrated |
| indexdate | 2024-07-09T21:30:52Z |
| institution | BVB |
| isbn | 9780195313765 0195313763 |
| language | English |
| lccn | 2007037252 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-017109780 |
| oclc_num | 171258242 |
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| owner_facet | DE-355 DE-BY-UBR |
| physical | XIV, 220 S. |
| publishDate | 2008 |
| publishDateSearch | 2008 |
| publishDateSort | 2008 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| spelling | Smith, Moyra 1939- Verfasser (DE-588)136104649 aut Translational research in genetics and genomics Moyra Smith Oxford [u.a.] Oxford Univ. Press 2008 XIV, 220 S. txt rdacontent n rdamedia nc rdacarrier Medical genetics Genomics Genetics, Medical Genetic Diseases, Inborn Medizin (DE-588)4038243-6 gnd rswk-swf Humangenetik (DE-588)4072653-8 gnd rswk-swf Anwendung (DE-588)4196864-5 gnd rswk-swf Humangenetik (DE-588)4072653-8 s Anwendung (DE-588)4196864-5 s Medizin (DE-588)4038243-6 s b DE-604 Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017109780&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Klappentext HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017109780&sequence=000006&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Smith, Moyra 1939- Translational research in genetics and genomics Medical genetics Genomics Genetics, Medical Genetic Diseases, Inborn Medizin (DE-588)4038243-6 gnd Humangenetik (DE-588)4072653-8 gnd Anwendung (DE-588)4196864-5 gnd |
| subject_GND | (DE-588)4038243-6 (DE-588)4072653-8 (DE-588)4196864-5 |
| title | Translational research in genetics and genomics |
| title_auth | Translational research in genetics and genomics |
| title_exact_search | Translational research in genetics and genomics |
| title_full | Translational research in genetics and genomics Moyra Smith |
| title_fullStr | Translational research in genetics and genomics Moyra Smith |
| title_full_unstemmed | Translational research in genetics and genomics Moyra Smith |
| title_short | Translational research in genetics and genomics |
| title_sort | translational research in genetics and genomics |
| topic | Medical genetics Genomics Genetics, Medical Genetic Diseases, Inborn Medizin (DE-588)4038243-6 gnd Humangenetik (DE-588)4072653-8 gnd Anwendung (DE-588)4196864-5 gnd |
| topic_facet | Medical genetics Genomics Genetics, Medical Genetic Diseases, Inborn Medizin Humangenetik Anwendung |
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| work_keys_str_mv | AT smithmoyra translationalresearchingeneticsandgenomics |