KOBV Portal

Online Resource

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Pattaro, Cristian ; Teumer, Alexander ; Gorski, Mathias ; [et al.]

Springer Science and Business Media LLC ; 2016

In: Nature Communications Vol. 7, No. 1 ( 2016-01-21)

add to watchlist on the watchlist

Details

In: Nature Communications, Springer Science and Business Media LLC, Vol. 7, No. 1 ( 2016-01-21)

Abstract: Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/ncomms10023

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2016

detail.hit.zdb_id: 2553671-0

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Online Resource

Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection

Adlam, David ; Olson, Timothy M. ; Combaret, Nicolas ; [et al.]

Elsevier BV ; 2019

In: Journal of the American College of Cardiology Vol. 73, No. 1 ( 2019-01), p. 58-66

add to watchlist on the watchlist

Details

In: Journal of the American College of Cardiology, Elsevier BV, Vol. 73, No. 1 ( 2019-01), p. 58-66

Type of Medium: Online Resource

ISSN: 0735-1097

URL: Article

DOI: 10.1016/j.jacc.2018.09.085

RVK:

XA 17760

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1468327-1

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Online Resource

Genetic studies of body mass index yield new insights for obesity biology

Locke, Adam E. ; The LifeLines Cohort Study ; Kahali, Bratati ; [et al.]

Springer Science and Business Media LLC ; 2015

In: Nature Vol. 518, No. 7538 ( 2015-02-12), p. 197-206

add to watchlist on the watchlist

Details

In: Nature, Springer Science and Business Media LLC, Vol. 518, No. 7538 ( 2015-02-12), p. 197-206

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/nature14177

RVK:

TA 1000

RVK:

UA 1000

RVK:

WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2015

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Online Resource

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

Horikoshi, Momoko ; Mӓgi, Reedik ; van de Bunt, Martijn ; [et al.]

Public Library of Science (PLoS) ; 2015

In: PLOS Genetics Vol. 11, No. 7 ( 2015-7-1), p. e1005230-

add to watchlist on the watchlist

Details

In: PLOS Genetics, Public Library of Science (PLoS), Vol. 11, No. 7 ( 2015-7-1), p. e1005230-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1005230

DOI: 10.1371/journal.pgen.1005230.g001

DOI: 10.1371/journal.pgen.1005230.g002

DOI: 10.1371/journal.pgen.1005230.t001

DOI: 10.1371/journal.pgen.1005230.t002

DOI: 10.1371/journal.pgen.1005230.t003

DOI: 10.1371/journal.pgen.1005230.s001

DOI: 10.1371/journal.pgen.1005230.s002

DOI: 10.1371/journal.pgen.1005230.s003

DOI: 10.1371/journal.pgen.1005230.s004

DOI: 10.1371/journal.pgen.1005230.s005

DOI: 10.1371/journal.pgen.1005230.s006

DOI: 10.1371/journal.pgen.1005230.s007

DOI: 10.1371/journal.pgen.1005230.s008

DOI: 10.1371/journal.pgen.1005230.s009

DOI: 10.1371/journal.pgen.1005230.s010

DOI: 10.1371/journal.pgen.1005230.s011

DOI: 10.1371/journal.pgen.1005230.s012

DOI: 10.1371/journal.pgen.1005230.s013

DOI: 10.1371/journal.pgen.1005230.s014

DOI: 10.1371/journal.pgen.1005230.s015

DOI: 10.1371/journal.pgen.1005230.s016

DOI: 10.1371/journal.pgen.1005230.s017

DOI: 10.1371/journal.pgen.1005230.s018

DOI: 10.1371/journal.pgen.1005230.s019

DOI: 10.1371/journal.pgen.1005230.s020

DOI: 10.1371/journal.pgen.1005230.s021

DOI: 10.1371/journal.pgen.1005230.s022

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2015

detail.hit.zdb_id: 2186725-2

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Online Resource

Defining the role of common variation in the genomic and biological architecture of adult human height

Wood, Andrew R ; The Electronic Medical Records and Genomics (eMERGE) Consortium ; Esko, Tonu ; [et al.]

Springer Science and Business Media LLC ; 2014

In: Nature Genetics Vol. 46, No. 11 ( 2014-11), p. 1173-1186

add to watchlist on the watchlist

Details

In: Nature Genetics, Springer Science and Business Media LLC, Vol. 46, No. 11 ( 2014-11), p. 1173-1186

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.3097

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2014

detail.hit.zdb_id: 1494946-5

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Online Resource

Differential expression of stem cell markers in proliferating cells in glioma

Rehfeld, Marten ; Matschke, Jakob ; Hagel, Christian ; [et al.]

Springer Science and Business Media LLC ; 2021

In: Journal of Cancer Research and Clinical Oncology Vol. 147, No. 10 ( 2021-10), p. 2969-2982

add to watchlist on the watchlist

Details

In: Journal of Cancer Research and Clinical Oncology, Springer Science and Business Media LLC, Vol. 147, No. 10 ( 2021-10), p. 2969-2982

Abstract: The identification of prognostically and therapeutically relevant molecular markers is fundamental to the further development of personalised therapies in brain tumours. Current therapeutic options for the treatment of gliomas rely mainly on surgical resection and the inhibition of tumour cell proliferation by irradiation and chemotherapy. Glioma stem cells are a subpopulation of proliferating tumour cells that have self-renewal capacity and can give rise to heterogeneous cells that comprise the tumour and are thought to play a role in the resistance of gliomas to therapy. The aim of this study was to evaluate the expression of markers of glioma stem cells and differentiated glial cells in proliferating glioma cells in comparison to the overall expression of the respective markers in the tumour tissue. Methods Tissue microarrays were assembled from specimen of pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, glioblastoma, oligodendroglioma, anaplastic oligodendroglioma, ependymoma, and anaplastic ependymoma. These were immunohistochemically double stained with antibodies against the proliferation-associated antigen Ki67 and marker proteins for glioma stem cells (CD133, Nestin, Musashi, CD15, CD44), and differentiated glioma cells (GFAP, MAP2c). Results The expression of both glial and glioma stem cell markers differs between proliferating and non-proliferating glioma cells. Furthermore, the proliferating cells in the different glial tumour entities show a different expression profile. Conclusion Further analysis of marker expression in proliferating glioma cells and correlation with clinical outcome and susceptibility to irradiation and chemotherapy might help establish new biomarkers and therapies for glioma.

Type of Medium: Online Resource

ISSN: 0171-5216 , 1432-1335

URL: Article

DOI: 10.1007/s00432-021-03704-5

RVK:

XA 52301

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2021

detail.hit.zdb_id: 1459285-X

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Online Resource

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

Schunkert, Heribert ; Cardiogenics ; König, Inke R ; [et al.]

Springer Science and Business Media LLC ; 2011

In: Nature Genetics Vol. 43, No. 4 ( 2011-4), p. 333-338

add to watchlist on the watchlist

Details

In: Nature Genetics, Springer Science and Business Media LLC, Vol. 43, No. 4 ( 2011-4), p. 333-338

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.784

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2011

detail.hit.zdb_id: 1494946-5

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Online Resource

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Winkler, Thomas W. ; Justice, Anne E. ; Graff, Mariaelisa ; [et al.]

Public Library of Science (PLoS) ; 2015

In: PLOS Genetics Vol. 11, No. 10 ( 2015-10-1), p. e1005378-

add to watchlist on the watchlist

Details

In: PLOS Genetics, Public Library of Science (PLoS), Vol. 11, No. 10 ( 2015-10-1), p. e1005378-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1005378

DOI: 10.1371/journal.pgen.1005378.g001

DOI: 10.1371/journal.pgen.1005378.g002

DOI: 10.1371/journal.pgen.1005378.g003

DOI: 10.1371/journal.pgen.1005378.g004

DOI: 10.1371/journal.pgen.1005378.t001

DOI: 10.1371/journal.pgen.1005378.t002

DOI: 10.1371/journal.pgen.1005378.t003

DOI: 10.1371/journal.pgen.1005378.s001

DOI: 10.1371/journal.pgen.1005378.s002

DOI: 10.1371/journal.pgen.1005378.s003

DOI: 10.1371/journal.pgen.1005378.s004

DOI: 10.1371/journal.pgen.1005378.s005

DOI: 10.1371/journal.pgen.1005378.s006

DOI: 10.1371/journal.pgen.1005378.s007

DOI: 10.1371/journal.pgen.1005378.s008

DOI: 10.1371/journal.pgen.1005378.s009

DOI: 10.1371/journal.pgen.1005378.s010

DOI: 10.1371/journal.pgen.1005378.s011

DOI: 10.1371/journal.pgen.1005378.s012

DOI: 10.1371/journal.pgen.1005378.s013

DOI: 10.1371/journal.pgen.1005378.s014

DOI: 10.1371/journal.pgen.1005378.s015

DOI: 10.1371/journal.pgen.1005378.s016

DOI: 10.1371/journal.pgen.1005378.s017

DOI: 10.1371/journal.pgen.1005378.s018

DOI: 10.1371/journal.pgen.1005378.s019

DOI: 10.1371/journal.pgen.1005378.s020

DOI: 10.1371/journal.pgen.1005378.s021

DOI: 10.1371/journal.pgen.1005378.s022

DOI: 10.1371/journal.pgen.1005378.s023

DOI: 10.1371/journal.pgen.1005378.s024

DOI: 10.1371/journal.pgen.1005378.s025

DOI: 10.1371/journal.pgen.1005378.s026

DOI: 10.1371/journal.pgen.1005378.s027

DOI: 10.1371/journal.pgen.1005378.s028

DOI: 10.1371/journal.pgen.1005378.s029

DOI: 10.1371/journal.pgen.1005378.s030

DOI: 10.1371/journal.pgen.1005378.s031

DOI: 10.1371/journal.pgen.1005378.s032

DOI: 10.1371/journal.pgen.1005378.s033

DOI: 10.1371/journal.pgen.1005378.s034

DOI: 10.1371/journal.pgen.1005378.s035

DOI: 10.1371/journal.pgen.1005378.s036

DOI: 10.1371/journal.pgen.1005378.s037

DOI: 10.1371/journal.pgen.1005378.s038

DOI: 10.1371/journal.pgen.1005378.s039

DOI: 10.1371/journal.pgen.1005378.s040

DOI: 10.1371/journal.pgen.1005378.s041

DOI: 10.1371/journal.pgen.1005378.s042

DOI: 10.1371/journal.pgen.1005378.s043

DOI: 10.1371/journal.pgen.1005378.s044

DOI: 10.1371/journal.pgen.1005378.s045

DOI: 10.1371/journal.pgen.1005378.s046

DOI: 10.1371/journal.pgen.1005378.s047

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2015

detail.hit.zdb_id: 2186725-2

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Online Resource

The impact of low-frequency and rare variants on lipid levels

Surakka, Ida ; ENGAGE Consortium ; Horikoshi, Momoko ; [et al.]

Springer Science and Business Media LLC ; 2015

In: Nature Genetics Vol. 47, No. 6 ( 2015-6), p. 589-597

add to watchlist on the watchlist

Details

In: Nature Genetics, Springer Science and Business Media LLC, Vol. 47, No. 6 ( 2015-6), p. 589-597

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.3300

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2015

detail.hit.zdb_id: 1494946-5

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Online Resource

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

Webb, Thomas R. ; Erdmann, Jeanette ; Stirrups, Kathleen E. ; [et al.]

Elsevier BV ; 2017

In: Journal of the American College of Cardiology Vol. 69, No. 7 ( 2017-02), p. 823-836

add to watchlist on the watchlist

Details

In: Journal of the American College of Cardiology, Elsevier BV, Vol. 69, No. 7 ( 2017-02), p. 823-836

Type of Medium: Online Resource

ISSN: 0735-1097

URL: Article

DOI: 10.1016/j.jacc.2016.11.056

RVK:

XA 17760

Language: English

Publisher: Elsevier BV

Publication Date: 2017

detail.hit.zdb_id: 1468327-1

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

hits 1 - 10 | 294 hits

Nothing or not found what you are looking for? Please check your search query or use the Interlibrary Loan Search.

Kooperativer Bibliotheksverbund

Berlin Brandenburg