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Article: Genes and podocytes - new insights into mechanisms of podocytopathy.

Bierzynska, Agnieszka / Soderquest, Katrina / Koziell, Ania

2015 Volume 5, Page(s) 226

Abstract: After decades of primarily morphological study, positional cloning of the NPHS1 gene was the landmark event that established aberrant podocyte genetics as a pivotal cause of malfunction of the glomerular filter. This ended any uncertainty whether genetic ...

Abstract	After decades of primarily morphological study, positional cloning of the NPHS1 gene was the landmark event that established aberrant podocyte genetics as a pivotal cause of malfunction of the glomerular filter. This ended any uncertainty whether genetic mutation plays a significant role in hereditary nephrotic syndromes (NS) and confirmed podocytes as critical players in regulating glomerular protein filtration. Although subsequent sequencing of candidate genes chosen on the basis of podocyte biology had less success, unbiased analysis of genetically informative kindreds and syndromic disease has led to further gene discovery. However, the 45 genes currently associated with human NS explain not more than 20-30% of hereditary and only 10-20% of sporadic cases. It is becoming increasingly clear both from genetic analysis and phenotypic data - including occasional response to immunosuppressive agents and post-transplant disease recurrence in Mendelian disease - that monogenic inheritance of abnormalities in podocyte-specific genes disrupting filter function is only part of the story. Recent advances in genetic screening technology combined with increasingly robust bioinformatics are set to allow identification and characterization of novel disease causing variants and more importantly, disease modifying genes. Emerging data also support a significant but incompletely characterized immunoregulatory component.
Language	English
Publishing date	2015-01-23
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2014.00226
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Strategies for translational research in the United Kingdom.

Soderquest, Katrina / Lord, Graham M

Science translational medicine

2010 Volume 2, Issue 53, Page(s) 53cm28

Abstract: In the United Kingdom, many foundations and institutions and the government have made substantial investments in translational research. We examine the structures that surround this support and consider some of the results of this prodigious push toward ... ...

Abstract	In the United Kingdom, many foundations and institutions and the government have made substantial investments in translational research. We examine the structures that surround this support and consider some of the results of this prodigious push toward enhancing translational research pursuits and thus improved clinical medicine.
MeSH term(s)	Translational Medical Research/economics ; Translational Medical Research/methods ; Translational Medical Research/organization & administration ; United Kingdom
Language	English
Publishing date	2010-10-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2518854-9
ISSN	1946-6242 ; 1946-6234
ISSN (online)	1946-6242
ISSN	1946-6234
DOI	10.1126/scitranslmed.3001129
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Article ; Online: Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease.

Soderquest, Katrina / Hertweck, Arnulf / Giambartolomei, Claudia / Henderson, Stephen / Mohamed, Rami / Goldberg, Rimma / Perucha, Esperanza / Franke, Lude / Herrero, Javier / Plagnol, Vincent / Jenner, Richard G / Lord, Graham M

PLoS genetics

2017 Volume 13, Issue 2, Page(s) e1006587

Abstract: The polarization of CD4+ T cells into distinct T helper cell lineages is essential for protective immunity against infection, but aberrant T cell polarization can cause autoimmunity. The transcription factor T-bet (TBX21) specifies the Th1 lineage and ... ...

Abstract	The polarization of CD4+ T cells into distinct T helper cell lineages is essential for protective immunity against infection, but aberrant T cell polarization can cause autoimmunity. The transcription factor T-bet (TBX21) specifies the Th1 lineage and represses alternative T cell fates. Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) that may be causative for autoimmune diseases. The majority of these polymorphisms are located within non-coding distal regulatory elements. It is considered that these genetic variants contribute to disease by altering the binding of regulatory proteins and thus gene expression, but whether these variants alter the binding of lineage-specifying transcription factors has not been determined. Here, we show that SNPs associated with the mucosal inflammatory diseases Crohn's disease, ulcerative colitis (UC) and celiac disease, but not rheumatoid arthritis or psoriasis, are enriched at T-bet binding sites. Furthermore, we identify disease-associated variants that alter T-bet binding in vitro and in vivo. ChIP-seq for T-bet in individuals heterozygous for the celiac disease-associated SNPs rs1465321 and rs2058622 and the IBD-associated SNPs rs1551398 and rs1551399, reveals decreased binding to the minor disease-associated alleles. Furthermore, we show that rs1465321 is an expression quantitative trait locus (eQTL) for the neighboring gene IL18RAP, with decreased T-bet binding associated with decreased expression of this gene. These results suggest that genetic polymorphisms may predispose individuals to mucosal autoimmune disease through alterations in T-bet binding. Other disease-associated variants may similarly act by modulating the binding of lineage-specifying transcription factors in a tissue-selective and disease-specific manner.
MeSH term(s)	Animals ; Binding Sites/genetics ; Blotting, Western ; CD4-Positive T-Lymphocytes/metabolism ; Celiac Disease/genetics ; Celiac Disease/metabolism ; Cells, Cultured ; Colitis, Ulcerative/genetics ; Colitis, Ulcerative/metabolism ; Crohn Disease/genetics ; Crohn Disease/metabolism ; Gene Expression ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study/methods ; Humans ; Interleukin-18 Receptor beta Subunit/genetics ; Interleukin-18 Receptor beta Subunit/metabolism ; Mice, Knockout ; Polymorphism, Single Nucleotide ; Protein Binding/genetics ; Regulatory Sequences, Nucleic Acid/genetics ; T-Box Domain Proteins/genetics ; T-Box Domain Proteins/metabolism ; Th1 Cells/metabolism
Chemical Substances	IL18RAP protein, human ; Interleukin-18 Receptor beta Subunit ; T-Box Domain Proteins ; T-box transcription factor TBX21
Language	English
Publishing date	2017-02-10
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2186725-2
ISSN	1553-7404 ; 1553-7390
ISSN (online)	1553-7404
ISSN	1553-7390
DOI	10.1371/journal.pgen.1006587
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Article ; Online: Cutting edge: CD8+ T cell priming in the absence of NK cells leads to enhanced memory responses.

Soderquest, Katrina / Walzer, Thierry / Zafirova, Biljana / Klavinskis, Linda S / Polić, Bojan / Vivier, Eric / Lord, Graham M / Martín-Fontecha, Alfonso

Journal of immunology (Baltimore, Md. : 1950)

2011 Volume 186, Issue 6, Page(s) 3304–3308

Abstract: It is uncertain whether NK cells modulate T cell memory differentiation. By using a genetic model that allows the selective depletion of NK cells, we show in this study that NK cells shape CD8(+) T cell fate by killing recently activated CD8(+) T cells ... ...

Abstract	It is uncertain whether NK cells modulate T cell memory differentiation. By using a genetic model that allows the selective depletion of NK cells, we show in this study that NK cells shape CD8(+) T cell fate by killing recently activated CD8(+) T cells in an NKG2D- and perforin-dependent manner. In the absence of NK cells, the differentiation of CD8(+) T cells is strongly biased toward a central memory T cell phenotype. Although, on a per-cell basis, memory CD8(+) T cells generated in the presence or the absence of NK cells have similar functional features and recall capabilities, NK cell deletion resulted in a significantly higher number of memory Ag-specific CD8(+) T cells, leading to more effective control of tumors carrying model Ags. The enhanced memory responses induced by the transient deletion of NK cells may provide a rational basis for the design of new vaccination strategies.
MeSH term(s)	Animals ; CD8-Positive T-Lymphocytes/cytology ; CD8-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/metabolism ; Cells, Cultured ; Coculture Techniques ; Female ; Humans ; Immunologic Memory/genetics ; Killer Cells, Natural/immunology ; Killer Cells, Natural/metabolism ; Killer Cells, Natural/pathology ; Lymphocyte Activation/genetics ; Lymphocyte Activation/immunology ; Lymphocyte Depletion/methods ; Melanoma, Experimental/immunology ; Melanoma, Experimental/metabolism ; Melanoma, Experimental/pathology ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, Transgenic ; NK Cell Lectin-Like Receptor Subfamily K/deficiency ; NK Cell Lectin-Like Receptor Subfamily K/metabolism ; NK Cell Lectin-Like Receptor Subfamily K/physiology ; Perforin ; Pore Forming Cytotoxic Proteins/biosynthesis ; Pore Forming Cytotoxic Proteins/genetics ; Pore Forming Cytotoxic Proteins/physiology ; Up-Regulation/genetics ; Up-Regulation/immunology
Chemical Substances	Klrk1 protein, mouse ; NK Cell Lectin-Like Receptor Subfamily K ; PRF1 protein, human ; Pore Forming Cytotoxic Proteins ; Perforin (126465-35-8)
Language	English
Publishing date	2011-02-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3056-9
ISSN	1550-6606 ; 0022-1767 ; 1048-3233 ; 1047-7381
ISSN (online)	1550-6606
ISSN	0022-1767 ; 1048-3233 ; 1047-7381
DOI	10.4049/jimmunol.1004122
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Ud II Zs.37: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MG 28: Show issues

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Article ; Online: MAGI2

Bierzynska, Agnieszka / Soderquest, Katrina / Dean, Philip / Colby, Elizabeth / Rollason, Ruth / Jones, Caroline / Inward, Carol D / McCarthy, Hugh J / Simpson, Michael A / Lord, Graham M / Williams, Maggie / Welsh, Gavin I / Koziell, Ania B / Saleem, Moin A

Journal of the American Society of Nephrology : JASN

2016 Volume 28, Issue 5, Page(s) 1614–1621

Abstract: Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of ... ...

Abstract	Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ≤30% of patients with hereditary cases and only 20% of patients with sporadic cases. The proteins encoded by these genes are expressed in podocytes, and malfunction of these proteins leads to a universal end point of podocyte injury, glomerular filtration barrier disruption, and SRNS. Here, we identified novel disease-causing mutations in
MeSH term(s)	Adaptor Proteins, Signal Transducing ; Carrier Proteins/genetics ; Female ; Guanylate Kinases ; Humans ; Infant ; Male ; Mutation ; Nephrotic Syndrome/congenital ; Nephrotic Syndrome/genetics
Chemical Substances	Adaptor Proteins, Signal Transducing ; Carrier Proteins ; Guanylate Kinases (EC 2.7.4.8) ; MAGI2 protein, human (EC 2.7.4.8)
Language	English
Publishing date	2016-12-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	1085942-1
ISSN	1533-3450 ; 1046-6673
ISSN (online)	1533-3450
ISSN	1046-6673
DOI	10.1681/ASN.2016040387
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Zs.A 3344: Show issues

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Article ; Online: Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Kidney international

2017 Volume 91, Issue 4, Page(s) 937–947

Abstract: Steroid Resistant Nephrotic Syndrome (SRNS) in children and young adults has differing etiologies with monogenic disease accounting for 2.9-30% in selected series. Using whole exome sequencing we sought to stratify a national population of children with ... ...

Abstract	Steroid Resistant Nephrotic Syndrome (SRNS) in children and young adults has differing etiologies with monogenic disease accounting for 2.9-30% in selected series. Using whole exome sequencing we sought to stratify a national population of children with SRNS into monogenic and non-monogenic forms, and further define those groups by detailed phenotypic analysis. Pediatric patients with SRNS were identified via a national United Kingdom Renal Registry. Whole exome sequencing was performed on 187 patients, of which 12% have a positive family history with a focus on the 53 genes currently known to be associated with nephrotic syndrome. Genetic findings were correlated with individual case disease characteristics. Disease causing variants were detected in 26.2% of patients. Most often this occurred in the three most common SRNS-associated genes: NPHS1, NPHS2, and WT1 but also in 14 other genes. The genotype did not always correlate with expected phenotype since mutations in OCRL, COL4A3, and DGKE associated with specific syndromes were detected in patients with isolated renal disease. Analysis by primary/presumed compared with secondary steroid resistance found 30.8% monogenic disease in primary compared with none in secondary SRNS permitting further mechanistic stratification. Genetic SRNS progressed faster to end stage renal failure, with no documented disease recurrence post-transplantation within this cohort. Primary steroid resistance in which no gene mutation was identified had a 47.8% risk of recurrence. In this unbiased pediatric population, whole exome sequencing allowed screening of all current candidate genes. Thus, deep phenotyping combined with whole exome sequencing is an effective tool for early identification of SRNS etiology, yielding an evidence-based algorithm for clinical management.
MeSH term(s)	Adolescent ; Age of Onset ; Child ; Child, Preschool ; Cohort Studies ; Disease Progression ; Exome ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genomics/methods ; Heredity ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Intracellular Signaling Peptides and Proteins/genetics ; Kaplan-Meier Estimate ; Kidney/pathology ; Kidney Failure, Chronic/diagnosis ; Kidney Failure, Chronic/genetics ; Kidney Failure, Chronic/therapy ; Male ; Membrane Proteins/genetics ; Mutation ; Nephrotic Syndrome/congenital ; Nephrotic Syndrome/diagnosis ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/therapy ; Pedigree ; Phenotype ; Precision Medicine ; Predictive Value of Tests ; Prognosis ; Registries ; Risk Factors ; United Kingdom ; WT1 Proteins/genetics ; Young Adult
Chemical Substances	Intracellular Signaling Peptides and Proteins ; Membrane Proteins ; NPHS2 protein ; WT1 Proteins ; WT1 protein, human ; nephrin
Language	English
Publishing date	2017-01-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1016/j.kint.2016.10.013
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Zs.A 797: Show issues

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Article ; Online: Monocytes control natural killer cell differentiation to effector phenotypes.

Soderquest, Katrina / Powell, Nick / Luci, Carmelo / van Rooijen, Nico / Hidalgo, Andrés / Geissmann, Frederic / Walzer, Thierry / Lord, Graham M / Martín-Fontecha, Alfonso

Blood

2011 Volume 117, Issue 17, Page(s) 4511–4518

Abstract: Natural killer (NK) cells play a major role in immunologic surveillance of cancer. Whether NK-cell subsets have specific roles during antitumor responses and what the signals are that drive their terminal maturation remain unclear. Using an in vivo model ...

Abstract	Natural killer (NK) cells play a major role in immunologic surveillance of cancer. Whether NK-cell subsets have specific roles during antitumor responses and what the signals are that drive their terminal maturation remain unclear. Using an in vivo model of tumor immunity, we show here that CD11b(hi)CD27(low) NK cells migrate to the tumor site to reject major histocompatibility complex class I negative tumors, a response that is severely impaired in Txb21(-/-) mice. The phenotypical analysis of Txb21-deficient mice shows that, in the absence of Txb21, NK-cell differentiation is arrested specifically at the CD11b(hi)CD27(hi) stage, resulting in the complete absence of terminally differentiated CD11b(hi)CD27(low) NK cells. Adoptive transfer experiments and radiation bone marrow chimera reveal that a Txb21(+/+) environment rescues the CD11b(hi)CD27(hi) to CD11b(hi)CD27(low) transition of Txb21(-/-) NK cells. Furthermore, in vivo depletion of myeloid cells and in vitro coculture experiments demonstrate that spleen monocytes mediate the terminal differentiation of peripheral NK cells in a Txb21- and IL-15Rα-dependent manner. Together, these data reveal a novel, unrecognized role for Txb21 expression in monocytes in promoting NK-cell development and help appreciate how various NK-cell subsets are generated and participate in antitumor immunity.
MeSH term(s)	Animals ; CD11b Antigen/metabolism ; Cell Communication/immunology ; Cell Differentiation/immunology ; Cells, Cultured ; Histocompatibility Antigens Class I/metabolism ; Humans ; Immunophenotyping ; Killer Cells, Natural/cytology ; Killer Cells, Natural/immunology ; Killer Cells, Natural/metabolism ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Mice, Transgenic ; Monocytes/cytology ; Monocytes/immunology ; Neoplasm Transplantation ; Neoplasms/immunology ; Phenotype ; Spleen/cytology ; Spleen/immunology ; T-Box Domain Proteins/genetics ; T-Box Domain Proteins/metabolism ; Tumor Necrosis Factor Receptor Superfamily, Member 7/metabolism
Chemical Substances	CD11b Antigen ; Histocompatibility Antigens Class I ; T-Box Domain Proteins ; T-box transcription factor TBX21 ; Tumor Necrosis Factor Receptor Superfamily, Member 7
Language	English
Publishing date	2011-03-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood-2010-10-312264
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Article: Genes and podocytes - new insights into mechanisms of podocytopathy.

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Article ; Online: Strategies for translational research in the United Kingdom.

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Article ; Online: Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease.

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Article ; Online: Cutting edge: CD8+ T cell priming in the absence of NK cells leads to enhanced memory responses.

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Article ; Online: MAGI2

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Article ; Online: Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

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Article ; Online: Monocytes control natural killer cell differentiation to effector phenotypes.

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