(Q41822498)

12 October 2017

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis (English)

1 reference

focal segmental glomerulosclerosis

12 October 2017

1 reference

based on heuristic

inferred from title

author

Brigitte Gilbert-Dussardier

7

Brigitte Gilbert-Dussardier

0 references

Géraldine Mollet

Géraldine Mollet

20

0 references

Olivier Gribouval

Olivier Gribouval

3

0 references

Olivia Boyer

Olivia Boyer

1

0 references

Marie-Claire Gubler

Marie-Claire Gubler

18

0 references

Corinne Antignac

Corinne Antignac

21

0 references

Jean-Pierre Grünfeld

11

Jean-Pierre Grunfeld

1 reference

12 October 2017

Geneviève Benoit

2

1 reference

12 October 2017

Fabien Nevo

4

1 reference

12 October 2017

Marie-Josèphe Tête

5

1 reference

12 October 2017

Jacques Dantal

6

1 reference

12 October 2017

Guy Touchard

8

1 reference

12 October 2017

Alexandre Karras

9

1 reference

12 October 2017

Claire Presne

10

1 reference

12 October 2017

Christophe Legendre

12

1 reference

12 October 2017

Dominique Joly

13

1 reference

12 October 2017

Philippe Rieu

14

1 reference

12 October 2017

Nabil Mohsin

15

1 reference

12 October 2017

Thierry Hannedouche

16

1 reference

12 October 2017

Valérie Moal

17

1 reference

12 October 2017

Isabelle Broutin

19

1 reference

12 October 2017

21 January 2011

1 reference

Journal of the American Society of Nephrology

12 October 2017

1 reference

12 October 2017

22

1 reference

12 October 2017

2

1 reference

12 October 2017

239-245

1 reference

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

A novel TRPC6 mutation that causes childhood FSGS.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

INF2 is an endoplasmic reticulum-associated formin protein.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

Dia1 and IQGAP1 interact in cell migration and phagocytic cup formation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

Mechanism and function of formins in the control of actin assembly

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

Cell junction-associated proteins IQGAP1, MAGI-2, CASK, spectrins, and alpha-actinin are components of the nephrin multiprotein complex

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

IQGAP1, a Rac- and Cdc42-binding protein, directly binds and cross-links microfilaments

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

The regulation of mDia1 by autoinhibition and its release by Rho*GTP.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029896

Mutagenic deamination of cytosine residues in DNA

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21258034

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Long-term outcome in children and adults with classic focal segmental glomerulosclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21258034

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2010050518

1 reference

12 October 2017

1 reference

12 October 2017

1 reference