(Q36960139)

17 August 2017

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis (English)

1 reference

17 August 2017

Rasheed A Gbadegesin

1

1 reference

17 August 2017

Peter J Lavin

2

1 reference

17 August 2017

Gentzon Hall

3

1 reference

17 August 2017

Bartlomiej Bartkowiak

4

1 reference

17 August 2017

Alison Homstad

5

1 reference

17 August 2017

Ruiji Jiang

6

1 reference

17 August 2017

Guanghong Wu

7

1 reference

17 August 2017

Alison Byrd

8

1 reference

17 August 2017

Kelvin Lynn

9

1 reference

17 August 2017

Norman Wolfish

10

1 reference

17 August 2017

Carolina Ottati

11

1 reference

17 August 2017

Paul Stevens

12

1 reference

17 August 2017

David Howell

13

1 reference

17 August 2017

Peter Conlon

14

1 reference

17 August 2017

Michelle P Winn

15

1 reference

17 August 2017

language of work or name

English

0 references

publication date

24 August 2011

1 reference

17 August 2017

1 reference

17 August 2017

81

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17 August 2017

1

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17 August 2017

94-99

1 reference

https://scigraph.springernature.com/pub.10.1038/ki.2011.297

17 August 2017

0 references

cites work

Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Variable renal phenotype in a family with an INF2 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

A new locus for familial FSGS on chromosome 2p

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Mutations in the formin gene INF2 cause 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=3694501

INF2 is an endoplasmic reticulum-associated formin 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=3694501

Protein structure prediction on the Web: a case study using the Phyre server

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Dia1 and IQGAP1 interact in cell migration and phagocytic cup formation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

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=3694501

INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Staying in shape with formins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

A mutation in the TRPC6 cation channel causes 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=3694501

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Prediction of deleterious human alleles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Mutations in ACTN4, encoding alpha-actinin-4, cause 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=3694501

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Mutations in INF2 are a major cause of autosomal dominant 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=3694501

Pathology of the nephrotic syndrome in children: a report for the International Study of Kidney Disease in Children.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Structural basis of Rho GTPase-mediated activation of the formin mDia1.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3694501

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21866090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/KI.2011.297

1 reference

17 August 2017

1 reference

17 August 2017

1 reference