A novel TRPC6 mutation that causes childhood FSGS. (Q30913201)

20 August 2017

A novel TRPC6 mutation that causes childhood FSGS. (English)

1 reference

Transient receptor potential cation channel subfamily C member 6

20 August 2017

1 reference

GOA release 2020-03-11

cation channel activity

1 reference

GOA release 2020-03-11

author name string

Saskia F Heeringa

1

1 reference

20 August 2017

Clemens C Möller

2

1 reference

20 August 2017

Jianyang Du

3

1 reference

20 August 2017

Lixia Yue

4

1 reference

20 August 2017

Bernward Hinkes

5

1 reference

20 August 2017

Gil Chernin

6

1 reference

20 August 2017

Christopher N Vlangos

7

1 reference

20 August 2017

Peter F Hoyer

8

1 reference

20 August 2017

Jochen Reiser

9

1 reference

20 August 2017

Friedhelm Hildebrandt

10

1 reference

20 August 2017

language of work or name

English

0 references

publication date

10 November 2009

1 reference

20 August 2017

1 reference

20 August 2017

4

1 reference

20 August 2017

e7771

1 reference

20 August 2017

11

1 reference

Creative Commons Attribution 4.0 International

20 August 2017

start time

10 November 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

TRP channels in kidney disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

TRPC6 in glomerular health and disease: what we know and what we believe

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Podocin and MEC-2 bind cholesterol to regulate the activity of associated ion channels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Hereditary proteinuria syndromes and mechanisms of proteinuria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Potentiation of TRPM7 inward currents by protons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

TRP channels in mechanosensation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

The cation selectivity filter of the bacterial sodium channel, NaChBac

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Subunit composition of mammalian transient receptor potential channels in living cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

The TRPM7 channel is inactivated by PIP(2) hydrolysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Sensitizing the Slit Diaphragm with TRPC6 ion channels.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Podocin organizes ion channel-lipid supercomplexes: implications for mechanosensation at the slit diaphragm.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Activation of M1 muscarinic acetylcholine receptors stimulates the formation of a multiprotein complex centered on TRPC6 channels

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Essential role of TRPC channels in the guidance of nerve growth cones by brain-derived neurotrophic factor.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777406

Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Arbeitsgemeinschaft für Pädiatrische Nephrologie

25 November 2018

1 reference

12 December 2020

Induction of TRPC6 channel in acquired forms of proteinuric kidney disease

1 reference

12 December 2020

Idiopathic membranous nephropathy: definition and relevance of a partial remission

1 reference

12 December 2020

Focal segmental glomerulosclerosis

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0007771

Identifiers

DOI

1 reference

20 August 2017

0 references

1 reference

20 August 2017

1 reference