ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling (Q42163264)

17 October 2017

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling (English)

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17 October 2017

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28

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17 October 2017

29

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17 October 2017

Neveen A Soliman

18

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Olivier Gribouval

Olivier Gribouval

8

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Hanan M Fathy

Hanan M Fathy

19

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Roger C Wiggins

Roger C Wiggins

12

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Corinne Antignac

Corinne Antignac

27

0 references

Katrina A Diaz

Katrina A Diaz

10

0 references

Heon Yung Gee

Heon Yung Gee

1

0 references

Virginia Vega-Warner

5

Virginia Vega-Warner

1 reference

17 October 2017

4

Toby W Hurd

1 reference

Thillai Sivakumar Natarajan

17 October 2017

11

Sivakumar Natarajan

1 reference

17 October 2017

13

Svjetlana Lovric

1 reference

17 October 2017

14

Gil Chernin

1 reference

17 October 2017

3

Shazia Ashraf

1 reference

17 October 2017

15

Dominik S Schoeb

1 reference

17 October 2017

16

Bugsu Ovunc

1 reference

17 October 2017

6

Humphrey Fang

1 reference

17 October 2017

21

Julia Hoefele

1 reference

17 October 2017

7

Bodo B Beck

1 reference

17 October 2017

Pawaree Saisawat

2

1 reference

17 October 2017

Weibin Zhou

9

1 reference

17 October 2017

Yaacov Frishberg

17

1 reference

17 October 2017

Heike Goebel

20

1 reference

17 October 2017

Lutz T Weber

22

1 reference

17 October 2017

Jeffrey W Innis

23

1 reference

17 October 2017

Christian Faul

24

1 reference

17 October 2017

Zhe Han

25

1 reference

17 October 2017

Joseph Washburn

26

1 reference

17 October 2017

Friedhelm Hildebrandt

30

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17 October 2017

language of work or name

English

0 references

publication date

8 July 2013

1 reference

Journal of Clinical Investigation

17 October 2017

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17 October 2017

123

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17 October 2017

3243-3253

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17 October 2017

8

1 reference

An in vivo functional analysis system for renal gene discovery in Drosophila pericardial nephrocytes

17 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Podocyte GTPases regulate kidney filter dynamics

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Podocyte-specific loss of Cdc42 leads to congenital nephropathy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Integrin α3 mutations with kidney, lung, and skin disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Inducible podocyte injury and proteinuria in transgenic zebrafish

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Mechanisms of the proteinuria induced by Rho GTPases

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Activation of RhoA in podocytes induces focal segmental glomerulosclerosis

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

The 'invisible hand': regulation of RHO GTPases by RHOGDIs

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Disruption of PTPRO causes childhood-onset nephrotic syndrome

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Regulation of Rho GTPase crosstalk, degradation and activity by RhoGDI1

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Targeted capture and massively parallel sequencing of 12 human exomes

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

A systematic approach to mapping recessive disease genes in individuals from outbred populations

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Accurate whole human genome sequencing using reversible terminator chemistry

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Mammalian Rho GTPases: new insights into their functions from in vivo studies

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

EBV Immortalization of human B lymphocytes separated from small volumes of cryo-preserved whole blood

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

p53 activation by knockdown technologies

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

The spectrum of podocytopathies: a unifying view of glomerular diseases.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Hereditary proteinuria syndromes and mechanisms of proteinuria

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Knocking out podocyte rho GTPases: and the winner is...

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Rho GDP dissociation inhibitor alpha interacts with estrogen receptor alpha and influences estrogen responsiveness.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS).

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Molecular basis of steroid-resistant nephrotic syndrome.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Rapid dendritic remodeling in the developing retina: dependence on neurotransmission and reciprocal regulation by Rac and Rho.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Congenital nephrotic syndrome in mice lacking CD2-associated protein

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726174

Getting a foothold in nephrotic syndrome

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23867502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23867502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Progressive impairment of kidneys and reproductive organs in mice lacking Rho GDIalpha

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23867502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI69134

1 reference

17 October 2017

1 reference

17 October 2017

1 reference