(Q42428361)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23291369%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23291369%20AND%20SRC:MED&resulttype=core&format=json

Transient receptor potential cation channel subfamily C member 6

21 February 2020

main subject

1 reference

protein homodimerization activity

GOA release 2020-03-11

1 reference

focal segmental glomerulosclerosis

GOA release 2020-03-11

1 reference

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23291369%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Tom Nijenhuis

13

1 reference

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21 February 2020

author name string

Julia M Hofstra

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23291369%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Sergio Lainez

2

1 reference

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21 February 2020

Willie H M van Kuijk

3

1 reference

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21 February 2020

Jeroen Schoots

4

1 reference

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21 February 2020

Marijke P A Baltissen

5

1 reference

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21 February 2020

Lies H Hoefsloot

6

1 reference

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21 February 2020

Nine V A M Knoers

7

1 reference

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21 February 2020

Jo H M Berden

8

1 reference

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21 February 2020

René J M Bindels

9

1 reference

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21 February 2020

Joost G J Hoenderop

11

1 reference

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21 February 2020

Jack F M Wetzels

12

1 reference

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21 February 2020

language of work or name

English

0 references

publication date

4 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23291369%20AND%20SRC:MED&resulttype=core&format=json

Nephrology Dialysis Transplantation

21 February 2020

published in

1 reference

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21 February 2020

volume

28

1 reference

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21 February 2020

page(s)

1830-1838

1 reference

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21 February 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23291369%20AND%20SRC:MED&resulttype=core&format=json

Focal segmental glomerulosclerosis

21 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Actin up: regulation of podocyte structure and function by components of the actin cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Podocyte-specific overexpression of wild type or mutant trpc6 in mice is sufficient to cause glomerular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Angiotensin II contributes to podocyte injury by increasing TRPC6 expression via an NFAT-mediated positive feedback signaling pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

TRPC6 channels and their binding partners in podocytes: role in glomerular filtration and pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

TRPC6 up-regulation in Ang II-induced podocyte apoptosis might result from ERK activation and NF-kappaB translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

TRPC6 enhances angiotensin II-induced albuminuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Human TRPC6 expressed in HEK 293 cells forms non-selective cation channels with limited Ca2+ permeability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

A novel TRPC6 mutation that causes childhood FSGS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Increased vascular smooth muscle contractility in TRPC6-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Activation of NFAT signaling in podocytes causes glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Synaptopodin orchestrates actin organization and cell motility via regulation of RhoA signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS572

21 January 2018

Identifiers

DOI

10.1093/NDT/GFS572

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23291369%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23291369%20AND%20SRC:MED&resulttype=core&format=json