Genotyping Fanconi Anemia: From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing -
Saved in:
| Main Author: | |
|---|---|
| Format: | Thesis Book |
| Language: | English |
| Published: |
2012
|
| Subjects: | |
| Online Access: | Volltext Inhaltsverzeichnis |
| Item Description: | Zsfassung in dt. und engl. Sprache. - Online erschienen: 2014 |
| Physical Description: | 206, XIX Bl. Ill., graph. Darst. |
Staff View
MARC
| LEADER | 00000nam a2200000 c 4500 | ||
|---|---|---|---|
| 001 | BV041618120 | ||
| 003 | DE-604 | ||
| 005 | 20140224 | ||
| 007 | t | ||
| 008 | 140203s2012 ad|| m||| 00||| eng d | ||
| 035 | |a (OCoLC)873425891 | ||
| 035 | |a (DE-599)BVBBV041618120 | ||
| 040 | |a DE-604 |b ger |e rakwb | ||
| 041 | 0 | |a eng | |
| 049 | |a DE-384 |a DE-473 |a DE-703 |a DE-1051 |a DE-824 |a DE-29 |a DE-12 |a DE-91 |a DE-19 |a DE-1049 |a DE-92 |a DE-739 |a DE-898 |a DE-355 |a DE-706 |a DE-20 |a DE-1102 | ||
| 084 | |a WG 7000 |0 (DE-625)148612: |2 rvk | ||
| 100 | 1 | |a Schuster, Beatrice |d 1983- |e Verfasser |0 (DE-588)1047064316 |4 aut | |
| 245 | 1 | 0 | |a Genotyping Fanconi Anemia |b From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - |c von Beatrice Schuster |
| 246 | 1 | 3 | |a Genotypisierung der Fanconi Anämie |
| 264 | 1 | |c 2012 | |
| 300 | |a 206, XIX Bl. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Zsfassung in dt. und engl. Sprache. - Online erschienen: 2014 | ||
| 502 | |a Würzburg, Univ., Diss., 2012 | ||
| 650 | 0 | 7 | |a Fanconi-Anämie |0 (DE-588)4211202-3 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a DNS-Sequenz |0 (DE-588)4150352-1 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a DNS-Reparatur |0 (DE-588)4150347-8 |2 gnd |9 rswk-swf |
| 655 | 7 | |0 (DE-588)4113937-9 |a Hochschulschrift |2 gnd-content | |
| 689 | 0 | 0 | |a DNS-Reparatur |0 (DE-588)4150347-8 |D s |
| 689 | 0 | 1 | |a Fanconi-Anämie |0 (DE-588)4211202-3 |D s |
| 689 | 0 | 2 | |a DNS-Sequenz |0 (DE-588)4150352-1 |D s |
| 689 | 0 | |5 DE-604 | |
| 776 | 0 | 8 | |i Erscheint auch als |n Online-Ausgabe |o urn:nbn:de:bvb:20-opus-85515 |
| 856 | 4 | 1 | |u https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-85515 |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 2 | |m DNB Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027059208&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 912 | |a ebook | ||
| 999 | |a oai:aleph.bib-bvb.de:BVB01-027059208 | ||
Record in the Search Index
| _version_ | 1804151827154862080 |
|---|---|
| adam_text | INDEX
ZUSAMMENFASSUNG 6
SUMMARY 8
1. INTRODUCTION 10
1.1 FANCONI ANEMIA 10
1.1.1 FIRST DESCRIPTION
AND CLINICAL
PHENOTYPE 10
1.1.2 CELLULAR PHENOTYPE
AND DIAGNOSTICS 12
1.2 GENETIC AND
MOLECULAR
BACKGROUND OF FA 13
1.2.1 THE FA GENES 13
1.2.2 THE FA PROTEINS IN DNA REPAIR 14
L.S GENOTYPING FA 16
1.3. L CLASSICAL GENETIC
APPROACHES -
A HISTORICAL OVERVIEW 16
1.3.2 NEXT GENERATION
SEQUENCING-A NOVEL APPROACH 17
1.4 AIM OF THE STUDY 19
2. MATERIALS AND
METHODS 20
3. RESULTS 22
5.1 FA CANDIDATE
GENES 22
3.1.1 A HISTONE-FOLD COMPLEX
AND
FANCM FORM A CONSERVED
DNA-REMODELING COMPLEX
TO MAINTAIN
GENOME
STABILITY 23
3.1.2 ON THE ROLE
OF FAN
1 IN FANCONI
ANEMIA 60
3.2 IDENTIFICATION OF NOVEL FA GENES 65
3.2.1 MUTATION OF THE
RAD5 LC GENE
IN A FANCONI
ANEMIA-LIKE DISORDER 66
3.2.2 SLX4, A COORDINATOR
OF STRUCTURE-SPECIFIC ENDONUCLEASES,
IS MUTATED
IN A
NEW
FANCONI ANEMIA
SUBTYPE 79
HTTP://D-NB.INFO/1048540111
3.2.3 XPF MUTATIONS SEVERELY DISRUPTING
DNA INTERSTRAND
CROSSLINK
REPAIR
CAUSE FANCONI
ANEMIA 99
3.3
GENOTYPING
FANCONI ANEMIA
BY NEXT GENERATION SEQUENCING I46
3.3.1 WHOLE EXOME SEQUENCING
REVEALS
NOVEL MUTATIONS
IN THE RECENTLY
IDENTIFIED FANCONI
ANEMIA GENE SLX4-/FANCP 147
3.3.2 GENOTYPING FANCONI
ANEMIA
BY WHOLE EXOME SEQUENCING:
A
DVANTAGES AND
C
HALLENGES 164
4. DISCUSSION 189
4.1 F
ROM
K
NOWN
TO
N
OVEL
G
ENES
189
4.2 F
ROM
C
LASSICAL
G
ENETIC
A
PPROACHES TO
N
EXT
G
ENERATION
S
EQUENCING
195
5. REFERENCES 198
APPENDIX
FIGURE REFERENCES AND
COPY RIGHTS I
INDEX OF ABBREVIATIONS III
PERSONAL CONTRIBUTIONS TO THE
ENCLOSED
PUBLICATIONS V
OWN PUBLICATIONS XIV
CONTRIBUTIONS TO CONFERENCES AND SYMPOSIA XVI
CURRICULUM VITAE (GERMAN
LANGUAGE) XVII
ACKNOWLEDGEMENTS (GERMAN
LANGUAGE) XIX
|
| any_adam_object | 1 |
| author | Schuster, Beatrice 1983- |
| author_GND | (DE-588)1047064316 |
| author_facet | Schuster, Beatrice 1983- |
| author_role | aut |
| author_sort | Schuster, Beatrice 1983- |
| author_variant | b s bs |
| building | Verbundindex |
| bvnumber | BV041618120 |
| classification_rvk | WG 7000 |
| collection | ebook |
| ctrlnum | (OCoLC)873425891 (DE-599)BVBBV041618120 |
| discipline | Biologie |
| format | Thesis Book |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>02010nam a2200433 c 4500</leader><controlfield tag="001">BV041618120</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20140224 </controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">140203s2012 ad|| m||| 00||| eng d</controlfield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)873425891</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV041618120</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-384</subfield><subfield code="a">DE-473</subfield><subfield code="a">DE-703</subfield><subfield code="a">DE-1051</subfield><subfield code="a">DE-824</subfield><subfield code="a">DE-29</subfield><subfield code="a">DE-12</subfield><subfield code="a">DE-91</subfield><subfield code="a">DE-19</subfield><subfield code="a">DE-1049</subfield><subfield code="a">DE-92</subfield><subfield code="a">DE-739</subfield><subfield code="a">DE-898</subfield><subfield code="a">DE-355</subfield><subfield code="a">DE-706</subfield><subfield code="a">DE-20</subfield><subfield code="a">DE-1102</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">WG 7000</subfield><subfield code="0">(DE-625)148612:</subfield><subfield code="2">rvk</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Schuster, Beatrice</subfield><subfield code="d">1983-</subfield><subfield code="e">Verfasser</subfield><subfield code="0">(DE-588)1047064316</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Genotyping Fanconi Anemia</subfield><subfield code="b">From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing -</subfield><subfield code="c">von Beatrice Schuster</subfield></datafield><datafield tag="246" ind1="1" ind2="3"><subfield code="a">Genotypisierung der Fanconi Anämie</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2012</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">206, XIX Bl.</subfield><subfield code="b">Ill., graph. Darst.</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Zsfassung in dt. und engl. Sprache. - Online erschienen: 2014</subfield></datafield><datafield tag="502" ind1=" " ind2=" "><subfield code="a">Würzburg, Univ., Diss., 2012</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Fanconi-Anämie</subfield><subfield code="0">(DE-588)4211202-3</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">DNS-Sequenz</subfield><subfield code="0">(DE-588)4150352-1</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">DNS-Reparatur</subfield><subfield code="0">(DE-588)4150347-8</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="655" ind1=" " ind2="7"><subfield code="0">(DE-588)4113937-9</subfield><subfield code="a">Hochschulschrift</subfield><subfield code="2">gnd-content</subfield></datafield><datafield tag="689" ind1="0" ind2="0"><subfield code="a">DNS-Reparatur</subfield><subfield code="0">(DE-588)4150347-8</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="1"><subfield code="a">Fanconi-Anämie</subfield><subfield code="0">(DE-588)4211202-3</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="2"><subfield code="a">DNS-Sequenz</subfield><subfield code="0">(DE-588)4150352-1</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2=" "><subfield code="5">DE-604</subfield></datafield><datafield tag="776" ind1="0" ind2="8"><subfield code="i">Erscheint auch als</subfield><subfield code="n">Online-Ausgabe</subfield><subfield code="o">urn:nbn:de:bvb:20-opus-85515</subfield></datafield><datafield tag="856" ind1="4" ind2="1"><subfield code="u">https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-85515</subfield><subfield code="x">Resolving-System</subfield><subfield code="z">kostenfrei</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">DNB Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027059208&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ebook</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-027059208</subfield></datafield></record></collection> |
| genre | (DE-588)4113937-9 Hochschulschrift gnd-content |
| genre_facet | Hochschulschrift |
| id | DE-604.BV041618120 |
| illustrated | Illustrated |
| indexdate | 2024-07-10T01:01:00Z |
| institution | BVB |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-027059208 |
| oclc_num | 873425891 |
| open_access_boolean | 1 |
| owner | DE-384 DE-473 DE-BY-UBG DE-703 DE-1051 DE-824 DE-29 DE-12 DE-91 DE-BY-TUM DE-19 DE-BY-UBM DE-1049 DE-92 DE-739 DE-898 DE-BY-UBR DE-355 DE-BY-UBR DE-706 DE-20 DE-1102 |
| owner_facet | DE-384 DE-473 DE-BY-UBG DE-703 DE-1051 DE-824 DE-29 DE-12 DE-91 DE-BY-TUM DE-19 DE-BY-UBM DE-1049 DE-92 DE-739 DE-898 DE-BY-UBR DE-355 DE-BY-UBR DE-706 DE-20 DE-1102 |
| physical | 206, XIX Bl. Ill., graph. Darst. |
| psigel | ebook |
| publishDate | 2012 |
| publishDateSearch | 2012 |
| publishDateSort | 2012 |
| record_format | marc |
| spelling | Schuster, Beatrice 1983- Verfasser (DE-588)1047064316 aut Genotyping Fanconi Anemia From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - von Beatrice Schuster Genotypisierung der Fanconi Anämie 2012 206, XIX Bl. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Zsfassung in dt. und engl. Sprache. - Online erschienen: 2014 Würzburg, Univ., Diss., 2012 Fanconi-Anämie (DE-588)4211202-3 gnd rswk-swf DNS-Sequenz (DE-588)4150352-1 gnd rswk-swf DNS-Reparatur (DE-588)4150347-8 gnd rswk-swf (DE-588)4113937-9 Hochschulschrift gnd-content DNS-Reparatur (DE-588)4150347-8 s Fanconi-Anämie (DE-588)4211202-3 s DNS-Sequenz (DE-588)4150352-1 s DE-604 Erscheint auch als Online-Ausgabe urn:nbn:de:bvb:20-opus-85515 https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-85515 Resolving-System kostenfrei Volltext DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027059208&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Schuster, Beatrice 1983- Genotyping Fanconi Anemia From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - Fanconi-Anämie (DE-588)4211202-3 gnd DNS-Sequenz (DE-588)4150352-1 gnd DNS-Reparatur (DE-588)4150347-8 gnd |
| subject_GND | (DE-588)4211202-3 (DE-588)4150352-1 (DE-588)4150347-8 (DE-588)4113937-9 |
| title | Genotyping Fanconi Anemia From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - |
| title_alt | Genotypisierung der Fanconi Anämie |
| title_auth | Genotyping Fanconi Anemia From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - |
| title_exact_search | Genotyping Fanconi Anemia From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - |
| title_full | Genotyping Fanconi Anemia From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - von Beatrice Schuster |
| title_fullStr | Genotyping Fanconi Anemia From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - von Beatrice Schuster |
| title_full_unstemmed | Genotyping Fanconi Anemia From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - von Beatrice Schuster |
| title_short | Genotyping Fanconi Anemia |
| title_sort | genotyping fanconi anemia from known to novel genes from classical genetic approaches to next generation sequencing |
| title_sub | From Known to Novel Genes - From Classical Genetic Approaches to Next Generation Sequencing - |
| topic | Fanconi-Anämie (DE-588)4211202-3 gnd DNS-Sequenz (DE-588)4150352-1 gnd DNS-Reparatur (DE-588)4150347-8 gnd |
| topic_facet | Fanconi-Anämie DNS-Sequenz DNS-Reparatur Hochschulschrift |
| url | https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-85515 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027059208&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT schusterbeatrice genotypingfanconianemiafromknowntonovelgenesfromclassicalgeneticapproachestonextgenerationsequencing AT schusterbeatrice genotypisierungderfanconianamie |