Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency:
Gespeichert in:
| 1. Verfasser: | |
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| Format: | Abschlussarbeit Buch |
| Sprache: | English |
| Veröffentlicht: |
Freiburg im Breisgau
March 2019
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis Inhaltsverzeichnis |
| Beschreibung: | 119 Seiten Illustrationen, Diagramme 30 cm |
Internformat
MARC
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| 100 | 1 | |a Eskandarian, Zoya |e Verfasser |0 (DE-588)1182721397 |4 aut | |
| 245 | 1 | 0 | |a Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency |c presented by Zoya Eskandarian |
| 264 | 1 | |a Freiburg im Breisgau |c March 2019 | |
| 300 | |a 119 Seiten |b Illustrationen, Diagramme |c 30 cm | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 502 | |b Dissertation |c Albert-Ludwigs-University Freiburg, Germany |d 2019 | ||
| 653 | |a CVID | ||
| 653 | |a Monogenic defects | ||
| 653 | |a IKAROS | ||
| 653 | |a TRAIL DNA binding | ||
| 653 | |a Nuclear localization | ||
| 653 | |a article | ||
| 655 | 7 | |0 (DE-588)4113937-9 |a Hochschulschrift |2 gnd-content | |
| 856 | 4 | 2 | |m B:DE-101 |q application/pdf |u http://d-nb.info/1194472222/04 |3 Inhaltsverzeichnis |
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| 999 | |a oai:aleph.bib-bvb.de:BVB01-031593081 | ||
Datensatz im Suchindex
| _version_ | 1804180610325938176 |
|---|---|
| adam_text | TABLE
OF
CONTENTS
1.
SUMMARY
...........................................................................................................................................................................
7
2.
INTRODUCTION
......................................................................................................................................................................
9
2.1
PRIMARY
IMMUNODEFICIENCIES,
A
GROUP
OF
HETEROGENEOUS
GENETIC
DISORDERS
........................................................
9
2.2
PRIMARY
ANTIBODY
DEFICIENCIES
(PADS),
THE
MOST
COMMON
TYPES
OF
PIDS
...........................................................
11
2.3
COMMON
VARIABLE
IMMUNODEFICIENCY
(CVID)
......................................................................................................
13
2.4
THE
IKAROS
FAMILY
OF
TRANSCRIPTION
FACTORS
.........................................................................................................
18
2.4.1
ROLE
OF
THE
IKAROS
FAMILY
IN
HEMATOPOIESIS
...............................................................................................
19
2.4.2
MECHANISMS
OF
ACTION
IN
IKAROS
FAMILY
.....................................................................................................
22
2.4.3
GENES
TARGETED
BY
THE
IKAROS
FAMILY
OF
PROTEINS
.......................................................................................
22
2.5
THE
TUMOR
NECROSIS
FACTOR
(TNF)
SUPERFAMILY
......................................................................................................
23
2.5.1
STRUCTURE
OF
TNF
SUPERFAMILY
LIGANDS
AND
RECEPTORS
.....................................................................................
24
2.5.2
SIGNALING
PATHWAY
ACTIVATED
BY
TNF
SUPERFAMILY
MEMBERS
........................................................................
25
2.5.3
BIOLOGICAL
ROLES
OF
TNF
SUPERFAMILY
MEMBERS
..............................................................................................
26
3.
OBJECTIVES
.....................................................................................................................................................................
29
4.
CHAPTER
I:
ASSESSING
THE
FUNCTIONAL
RELEVANCE
OF
VARIANTS
IN
THE
IKAROS
FAMILY
ZINC
FINGER
PROTEIN
1
(.
IKZF1
)
IN
A
COHORT
OF
PATIENTS
WITH
PRIMARY
IMMUNODEFICIENCY
........................................................................................................
31
4.1.
ZKZF7ENCODES
IKAROS,
THE
MASTER
REGULATOR
OF
HEMATOPOIESIS
......................................................................
31
4.2
THE
PROTEIN
STRUCTURE
OF
IKAROS
..........................................................................................................................
31
4.3
TRANSCRIPTIONAL
REGULATION
OF
THE
ADAPTIVE
IMMUNE
SYSTEM
BY
IKAROS
...........................................................
32
4.3.1
THE
ROLE
OF
IKAROS
IN
T
CELL
DEVELOPMENT
..................................................................................................
32
4.3.2
THE
ROLE
OF
IKAROS
IN
B
CELL
DEVELOPMENT
AND
FUNCTION
............................................................................
33
4.4
IKAROS
MUTATIONS
IN
PRIMARY
IMMUNODEFICIENCIES
AND
MALIGNANCIES
.............................................................
37
5.
MATERIALS
AND
METHODS
..................................................................................................................................................
39
6.
RESULTS
............................................................................................................................................................................
45
6.1
HETEROZYGOUS
VARIANTS
IN
IKZF1
IN
A
COHORT
OF
PRIMARY
IMMUNODEFICIENCY
PATIENTS
WITH
VARIABLE
CLINICAL
MANIFESTATIONS
................................................................................................................................................................
45
6.2
IKZFL
MISSENSE
VARIANTS
HAVE
EXPRESSION
LEVELS
SIMILAR
TO
THE
WILDTYPE
PROTEIN
IN
TRANSFECTED
CELLS
................46
6.4
VARIANTS
AFFECTING
THE
DNA
BINDING
DOMAIN
OF
IKAROS
IMPAIRED
ITS
BINDING
ABILITY
TO
THE
TARGET
SEQUENCE
50
6.5
THE
DNA
BINDING
ABILITY
OF
WILDTYPE
IKAROS
REMAINS
UNAFFECTED
IN
THE
PRESENCE
OF
MUTANT VARIANTS
WITH
DNA
BINDING
DEFECTS
....................................................................................................................................................
51
6.6
VARIANTS
AFFECTING
THE
DNA
BINDING
REGION
OF
IKAROS
CAUSE
DIFFUSE
NUCLEAR
LOCALIZATION
............................
52
6.7
THE
DNA
BINDING
ABILITY
OF
WILDTYPE
IKAROS
REMAINS
UNAFFECTED
UPON
CO-EXPRESSION
OF
MUTANT
VARIANTS..
53
7.
CHAPTER
II:
THE
POSSIBLE
CONTRIBUTION
OF
TNFSF10
VARIANTS
TO
THE
CVID
PHENOTYPE
..............................................
58
7.1
TNF-RELATED
APOPTOSIS-INDUCING
LIGAND
(TRAIL)
..................................................................................................
58
7.2
THE
PROTEIN
STRUCTURE
OF
TRAIL
RECEPTORS
.............................................................................................................
58
7.3
TRAIL-RECEPTORS
SIGNALING
.....................................................................................................................................
59
7.3.1
APOPTOSIS-INDUCING
PATHWAYS
..........................................................................................................................
59
7.3.2
NON-APOPTOTIC
TRAIL
SIGNALING
.....................................................................................................................
61
7.4
THE
ROLE
OF
TRAIL
IN
THE
IMMUNE
SYSTEM
.............................................................................................................
62
8.
MATERIALS
AND
METHODS
...................................................................................................................................................
66
9.
RESULTS
.............................................................................................................................................................................
72
9.1
DIFFERENT
CLINICAL
MANIFESTATIONS
IN
CVID
PATIENTS
CARRYING
TNFSFS10
VARIANTS
..............................................
72
9.2
GLYCOSYLATION
AND
CLEAVAGE
OF
TRAIL
WERE
AFFECTED
BY
THE
MISSENSE
VARIANT
AFFECTING
THE
TRANSMEMBRANE
DOMAIN
OF
THE
LIGAND
.....................................................................................................................................................
73
9.3
THE
MISSENSE
MUTATION
AFFECTING
THE
TRANSMEMBRANE
REGION
OF
THE
PROTEIN
REDUCED
THE
SURFACE
EXPRESSION
OF
TRAIL
............................................................................................................................................................................
74
9.6
TRAIL-INDUCED
APOPTOSIS
WAS
DELAYED
IN
CELLS,
CO-CULTURED
WITH
HEK293T
CELLS
EXPRESSING P.GLN27LYS
FORM
................................................................................................................................................................................
81
10.
DISCUSSION
AND
OUTLOOK
................................................................................................................................................
84
11.
ACKNOWLEDGMENTS
.......................................................................................................................................................
92
12.
LIST
OF
PUBLICATIONS
......................................................................................................................................................
93
13.
APPENDIX
.......................................................................................................................................................................
94
14.
LIST
OF
ABBREVIATION
......................................................................................................................................................
95
15.
REFERENCES
..................................................................................................................................................................
100
|
| any_adam_object | 1 |
| author | Eskandarian, Zoya |
| author_GND | (DE-588)1182721397 |
| author_facet | Eskandarian, Zoya |
| author_role | aut |
| author_sort | Eskandarian, Zoya |
| author_variant | z e ze |
| building | Verbundindex |
| bvnumber | BV046214258 |
| ctrlnum | (OCoLC)1125194354 (DE-599)DNB1194472222 |
| discipline | Biologie Medizin |
| format | Thesis Book |
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| id | DE-604.BV046214258 |
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| indexdate | 2024-07-10T08:38:29Z |
| institution | BVB |
| language | English |
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| oclc_num | 1125194354 |
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| physical | 119 Seiten Illustrationen, Diagramme 30 cm |
| publishDate | 2019 |
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| spelling | Eskandarian, Zoya Verfasser (DE-588)1182721397 aut Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency presented by Zoya Eskandarian Freiburg im Breisgau March 2019 119 Seiten Illustrationen, Diagramme 30 cm txt rdacontent n rdamedia nc rdacarrier Dissertation Albert-Ludwigs-University Freiburg, Germany 2019 CVID Monogenic defects IKAROS TRAIL DNA binding Nuclear localization article (DE-588)4113937-9 Hochschulschrift gnd-content B:DE-101 application/pdf http://d-nb.info/1194472222/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031593081&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Eskandarian, Zoya Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency |
| subject_GND | (DE-588)4113937-9 |
| title | Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency |
| title_auth | Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency |
| title_exact_search | Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency |
| title_full | Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency presented by Zoya Eskandarian |
| title_fullStr | Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency presented by Zoya Eskandarian |
| title_full_unstemmed | Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency presented by Zoya Eskandarian |
| title_short | Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) and the Tumor necrosis factor super family 10 (TNFSF10) in a cohort of patients with primary immunodeficiency |
| title_sort | assessing the functional relevance of variants in the ikaros family zinc finger protein 1 ikzf1 and the tumor necrosis factor super family 10 tnfsf10 in a cohort of patients with primary immunodeficiency |
| topic_facet | Hochschulschrift |
| url | http://d-nb.info/1194472222/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031593081&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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