(Q36764175)

16 August 2017

ARHGDIA: a novel gene implicated in nephrotic syndrome (English)

1 reference

16 August 2017

1 reference

6

Somayyeh Fahiminiya

1 reference

16 August 2017

10

Steven A Narod

1 reference

16 August 2017

Indra Rani Gupta

1

1 reference

16 August 2017

Cindy Baldwin

2

1 reference

16 August 2017

David Auguste

3

1 reference

16 August 2017

Kevin C H Ha

4

1 reference

16 August 2017

Jasmine El Andalousi

5

1 reference

16 August 2017

Martin Bitzan

7

1 reference

16 August 2017

Chantal Bernard

8

1 reference

16 August 2017

Mohammad Reza Akbari

9

1 reference

16 August 2017

David S Rosenblatt

11

1 reference

16 August 2017

Jacek Majewski

12

1 reference

16 August 2017

Tomoko Takano

13

1 reference

16 August 2017

language of work or name

English

0 references

publication date

22 February 2013

1 reference

Journal of Medical Genetics

16 August 2017

1 reference

16 August 2017

50

1 reference

16 August 2017

330-338

1 reference

16 August 2017

5

1 reference

Podocyte-specific loss of Cdc42 leads to congenital nephropathy

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Mechanisms of the proteinuria induced by Rho GTPases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Circulating urokinase receptor as a cause of focal segmental glomerulosclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Activation of RhoA in podocytes induces focal segmental glomerulosclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

A RaDiCAL approach to gene discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Integrative genomics viewer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Inhibition of podocyte FAK protects against proteinuria and foot process effacement.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Regulation of Rho GTPase crosstalk, degradation and activity by RhoGDI1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Morphological and proliferative abnormalities in renal mesangial cells lacking RhoGDI.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

The Sequence Alignment/Map format and SAMtools

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

HIV-1 Nef disrupts the podocyte actin cytoskeleton by interacting with diaphanous interacting protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Podocytes in culture: past, present, and future

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

GDIs: central regulatory molecules in Rho GTPase activation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Podocyte migration during nephrotic syndrome requires a coordinated interplay between cathepsin L and alpha3 integrin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

A podocentric view of nephrology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Structure of the Rho family GTP-binding protein Cdc42 in complex with the multifunctional regulator RhoGDI

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Molecular cloning and characterization of a novel type of regulatory protein (GDI) for the rho proteins, ras p21-like small GTP-binding proteins.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Modification of kidney barrier function by the urokinase receptor.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625828

Congenital nephrotic syndrome

4 December 2018

1 reference

12 December 2020

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing

1 reference

12 December 2020

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

1 reference

12 December 2020

Role of Rho-GTPases in complement-mediated glomerular epithelial cell injury

1 reference

12 December 2020

Establishment and culture of human skin fibroblasts

1 reference

12 December 2020

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

1 reference

12 December 2020

10.1136/JMEDGENET-2012-101442

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

1 reference