DNA repair and human disease:
Gespeichert in:
| Format: | Elektronisch E-Book |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Georgetown, Tex.
Landes Bioscience/Eurekah.com
2006
New York, NY Springer Science+Business Media |
| Schriftenreihe: | Medical intelligence unit
|
| Schlagworte: | |
| Online-Zugang: | DE-355 Volltext Inhaltsverzeichnis |
| Beschreibung: | 1 Online-Ressource |
| ISBN: | 0387341951 9780387341958 9780387368023 |
| DOI: | 10.1007/0-387-36802-7 |
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Datensatz im Suchindex
| _version_ | 1807322116446486528 |
|---|---|
| adam_text |
I CONTENTS j|
Preface xi
1. Human Premature Aging Disorders and Dysfunction
of DNA Repair 1
Byungchan Ahn and Vilhelm A. Bohr
Werner Syndrome 2
Cockayne's Syndrome 10
2. DNA Repair Aspects for RecQ Helicase Disorders 20
Takehisa Matsumoto
Bloom Syndrome Gene (BLM) 21
Werner Syndrome Gene (WRN) 23
Rothmund Thomson Syndrome Gene (RT) 24
3. Trichothiodystrophy: A Disorder Highlighting the Crosstalk
between DNA Repair and Transcription 30
Miria Stefanini
Clinical Features 31
Clinical Photosensitivity Is Usually Associated
with an Altered Cellular Response to UV 32
Heterogeneity of the Repair Defect in TTD 34
The Genes Mutated in TTD Are All Related
to the Transcription Factor TFIIH 34
Mutational Analysis in Repair Defective TTD Patients 36
The Cellular Amount of TFIIH Is Reduced
in All Repair Defective TTD Patients 38
Consequences oiXPD Mutations on the Activities of TFIIH 40
TTD Symptoms Reflect Subde Defects in Transcription 40
XPD Mutations May Interfere with the Regulation
of Gene Expression by TFIIH 41
TFIIH Defects and Clinical Outcome 42
4. Roles oftheBRCAl and BRCA2 Breast Cancer
Susceptibility Proteins in DNA Repair 47
Katrin Gudmundsdottir, Emily Witt and Alan Ashworth
The BRCA Genes 47
BRCA Genes as Caretakers of the Genome 48
Double Strand Break Repair 49
Role of BRCA1 in DNA Repair 51
Role of BRCA2 in DNA Repair 52
BRCA1 and BRCA2 and Links to Other DNA
Repair Syndromes 54
Clinical and Therapeutic Implications 56
5. Radiosensitivity of Cells Derived from Down Syndrome Patients:
Is Defective DNA Repair Involved? 61
Adayapalam T. Natarajan
Chromosome Aberrations in DS Cells 61
Sister Chromatid Exchanges (SCEs) in DS Cells 62
Mutations in Cultured DS Cells 62
Repair of DNA Damage in DS Cells 62
Repair of DNA Single Strand Breaks in DS Cells 63
Unscheduled DNA Synthesis 63
Radio Resistant DNA Syndiesis 63
Repair of Mitochondrial DNA Damage 64
Mouse Models of DS 64
6. The Fanconi Anemia/BRCA Pathway: FANCD2 at the Crossroad
between Repair and Checkpoint Responses to DNA Damage 67
Massimo Bogliolo andjordi SurralUs
The Genetics of Fanconi Anemia 69
FANCD2 as a Key Player in Fanconi Anemia 70
DNA Repair and Cell Cycle Regulation Downstream FANCD2 72
Mouse Models of FA 76
The FA Pathway in Meiosis and Chromatin Remodeling 77
7. Is Ataxia Telangiectasia a Result of Impaired Coordination
between DNA Repair and Cell Cycle Checkpoint Regulators? 82
Adayabalam S. Balajee and Charles R. Geard
Phenotypic Features and Incidence of AT in Human Population 83
Cellular Characteristics of AT Patients 84
ATM Gene and Its Alterations in Cancer Patients 85
ATM Protein 86
Role of ATM Kinase in Cell Cycle Check Point Regulation 87
Role of ATM Kinase in DNA Repair 89
Ataxia Telangiectasia: Cell Cycle versus DNA Repair Defects 90
Genotype and Phenotype Correlation of AT Patients 93
8. Mechanisms of DNA Damage and Repair in Alzheimer Disease 98
V. Prakash Reddy, George Perry, Marcus S. Cooke,
Lawrence M. Sayre and Mark A. Smith
Free Radical Formation and Biomolecular Damage 99
Markers of DNA Damage in AD 104
8 Hydroxyguanosine (8OHG) 106
Mitochondrial versus Nuclear DNA Damage 107
Neuronal DNA Damage by RNS 107
Diet Restriction and DNA Damage 107
DNA Repair and AD 108
9. Orchestration of Telomeres and DNA Repair Factors
in Mammalian Cells: Implications for Cancer and Ageing 114
M. Prakash Hande
Telomeres and Telomerase 114
Telomeres and Ageing 115
Telomeres and Cancer 115
Telomeres and DNA Repair Factors 116
SCID (Severe Combined Immunodeficiency) and Telomeres 116
Nonhomologous End Joining (NHEJ) Complex and Telomeres 117
PARP 1 and Telomeres 120
Ataxia Telangiectasia Mutated (ATM) and Telomeres 120
Concerted Roles of PARP 1 and p53 on Telomeres 122
Interplay between PARP and Ku80
on Telomere Chromosome Integrity 122
Homologous Recombination Proteins and Telomeres 123
10. Defective Solar Protection in Xeroderma Pigmentosum
and Cockayne Syndrome Patients 128
Colette apRbys and Daniel Judge
Clinical Presentation 128
Human DNA Repair 129
Genes 130
Mutations Underlying die Phenotype 130
The Cellular and Biochemical Phenotype of NER 130
Damage Recognition 132
Open Complex Formation 134
Incision 134
DNA Resynthesis 135
Translesion Synthesis 135
Multifunctional DNA Repair Proteins 137
Index 147 |
| adam_txt |
I CONTENTS j|
Preface xi
1. Human Premature Aging Disorders and Dysfunction
of DNA Repair 1
Byungchan Ahn and Vilhelm A. Bohr
Werner Syndrome 2
Cockayne's Syndrome 10
2. DNA Repair Aspects for RecQ Helicase Disorders 20
Takehisa Matsumoto
Bloom Syndrome Gene (BLM) 21
Werner Syndrome Gene (WRN) 23
Rothmund Thomson Syndrome Gene (RT) 24
3. Trichothiodystrophy: A Disorder Highlighting the Crosstalk
between DNA Repair and Transcription 30
Miria Stefanini
Clinical Features 31
Clinical Photosensitivity Is Usually Associated
with an Altered Cellular Response to UV 32
Heterogeneity of the Repair Defect in TTD 34
The Genes Mutated in TTD Are All Related
to the Transcription Factor TFIIH 34
Mutational Analysis in Repair Defective TTD Patients 36
The Cellular Amount of TFIIH Is Reduced
in All Repair Defective TTD Patients 38
Consequences oiXPD Mutations on the Activities of TFIIH 40
TTD Symptoms Reflect Subde Defects in Transcription 40
XPD Mutations May Interfere with the Regulation
of Gene Expression by TFIIH 41
TFIIH Defects and Clinical Outcome 42
4. Roles oftheBRCAl and BRCA2 Breast Cancer
Susceptibility Proteins in DNA Repair 47
Katrin Gudmundsdottir, Emily Witt and Alan Ashworth
The BRCA Genes 47
BRCA Genes as Caretakers of the Genome 48
Double Strand Break Repair 49
Role of BRCA1 in DNA Repair 51
Role of BRCA2 in DNA Repair 52
BRCA1 and BRCA2 and Links to Other DNA
Repair Syndromes 54
Clinical and Therapeutic Implications 56
5. Radiosensitivity of Cells Derived from Down Syndrome Patients:
Is Defective DNA Repair Involved? 61
Adayapalam T. Natarajan
Chromosome Aberrations in DS Cells 61
Sister Chromatid Exchanges (SCEs) in DS Cells 62
Mutations in Cultured DS Cells 62
Repair of DNA Damage in DS Cells 62
Repair of DNA Single Strand Breaks in DS Cells 63
Unscheduled DNA Synthesis 63
Radio Resistant DNA Syndiesis 63
Repair of Mitochondrial DNA Damage 64
Mouse Models of DS 64
6. The Fanconi Anemia/BRCA Pathway: FANCD2 at the Crossroad
between Repair and Checkpoint Responses to DNA Damage 67
Massimo Bogliolo andjordi SurralUs
The Genetics of Fanconi Anemia 69
FANCD2 as a Key Player in Fanconi Anemia 70
DNA Repair and Cell Cycle Regulation Downstream FANCD2 72
Mouse Models of FA 76
The FA Pathway in Meiosis and Chromatin Remodeling 77
7. Is Ataxia Telangiectasia a Result of Impaired Coordination
between DNA Repair and Cell Cycle Checkpoint Regulators? 82
Adayabalam S. Balajee and Charles R. Geard
Phenotypic Features and Incidence of AT in Human Population 83
Cellular Characteristics of AT Patients 84
ATM Gene and Its Alterations in Cancer Patients 85
ATM Protein 86
Role of ATM Kinase in Cell Cycle Check Point Regulation 87
Role of ATM Kinase in DNA Repair 89
Ataxia Telangiectasia: Cell Cycle versus DNA Repair Defects 90
Genotype and Phenotype Correlation of AT Patients 93
8. Mechanisms of DNA Damage and Repair in Alzheimer Disease 98
V. Prakash Reddy, George Perry, Marcus S. Cooke,
Lawrence M. Sayre and Mark A. Smith
Free Radical Formation and Biomolecular Damage 99
Markers of DNA Damage in AD 104
8 Hydroxyguanosine (8OHG) 106
Mitochondrial versus Nuclear DNA Damage 107
Neuronal DNA Damage by RNS 107
Diet Restriction and DNA Damage 107
DNA Repair and AD 108
9. Orchestration of Telomeres and DNA Repair Factors
in Mammalian Cells: Implications for Cancer and Ageing 114
M. Prakash Hande
Telomeres and Telomerase 114
Telomeres and Ageing 115
Telomeres and Cancer 115
Telomeres and DNA Repair Factors 116
SCID (Severe Combined Immunodeficiency) and Telomeres 116
Nonhomologous End Joining (NHEJ) Complex and Telomeres 117
PARP 1 and Telomeres 120
Ataxia Telangiectasia Mutated (ATM) and Telomeres 120
Concerted Roles of PARP 1 and p53 on Telomeres 122
Interplay between PARP and Ku80
on Telomere Chromosome Integrity 122
Homologous Recombination Proteins and Telomeres 123
10. Defective Solar Protection in Xeroderma Pigmentosum
and Cockayne Syndrome Patients 128
Colette apRbys and Daniel Judge
Clinical Presentation 128
Human DNA Repair 129
Genes 130
Mutations Underlying die Phenotype 130
The Cellular and Biochemical Phenotype of NER 130
Damage Recognition 132
Open Complex Formation 134
Incision 134
DNA Resynthesis 135
Translesion Synthesis 135
Multifunctional DNA Repair Proteins 137
Index 147 |
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| spelling | DNA repair and human disease Adayabalam S. Balajee Georgetown, Tex. Landes Bioscience/Eurekah.com 2006 New York, NY Springer Science+Business Media 1 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Medical intelligence unit DNA repair Medical genetics DNA Repair physiology Disease etiology Krankheit (DE-588)4032844-2 gnd rswk-swf DNS-Schädigung (DE-588)4150350-8 gnd rswk-swf DNS-Reparatur (DE-588)4150347-8 gnd rswk-swf DNS-Schädigung (DE-588)4150350-8 s DNS-Reparatur (DE-588)4150347-8 s Krankheit (DE-588)4032844-2 s b DE-604 Balajee, Adayabalam S. Sonstige oth https://doi.org/10.1007/0-387-36802-7 Verlag Volltext HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014969695&sequence=000006&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | DNA repair and human disease DNA repair Medical genetics DNA Repair physiology Disease etiology Krankheit (DE-588)4032844-2 gnd DNS-Schädigung (DE-588)4150350-8 gnd DNS-Reparatur (DE-588)4150347-8 gnd |
| subject_GND | (DE-588)4032844-2 (DE-588)4150350-8 (DE-588)4150347-8 |
| title | DNA repair and human disease |
| title_auth | DNA repair and human disease |
| title_exact_search | DNA repair and human disease |
| title_exact_search_txtP | DNA repair and human disease |
| title_full | DNA repair and human disease Adayabalam S. Balajee |
| title_fullStr | DNA repair and human disease Adayabalam S. Balajee |
| title_full_unstemmed | DNA repair and human disease Adayabalam S. Balajee |
| title_short | DNA repair and human disease |
| title_sort | dna repair and human disease |
| topic | DNA repair Medical genetics DNA Repair physiology Disease etiology Krankheit (DE-588)4032844-2 gnd DNS-Schädigung (DE-588)4150350-8 gnd DNS-Reparatur (DE-588)4150347-8 gnd |
| topic_facet | DNA repair Medical genetics DNA Repair physiology Disease etiology Krankheit DNS-Schädigung DNS-Reparatur |
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