(Q36906056)

17 August 2017

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome (English)

1 reference

17 August 2017

Olivier Gribouval

5

0 references

Corinne Antignac

object named as

Corinne Antignac

16

0 references

Thomas Benzing

13

object named as

Thomas Benzing

1 reference

17 August 2017

15

Patrick Niaudet

1 reference

17 August 2017

Aurélie Philippe

1

1 reference

17 August 2017

Fabien Nevo

2

1 reference

17 August 2017

Ernie L Esquivel

3

1 reference

17 August 2017

Dalia Reklaityte

4

1 reference

17 August 2017

Marie-Josèphe Tête

6

1 reference

17 August 2017

Chantal Loirat

7

1 reference

17 August 2017

Jacques Dantal

8

1 reference

17 August 2017

Michel Fischbach

9

1 reference

17 August 2017

Claire Pouteil-Noble

10

1 reference

17 August 2017

Stéphane Decramer

11

1 reference

17 August 2017

Martin Hoehne

12

1 reference

17 August 2017

Marina Charbit

14

1 reference

17 August 2017

9 July 2008

1 reference

Journal of the American Society of Nephrology

17 August 2017

1 reference

17 August 2017

19

1 reference

17 August 2017

10

1 reference

17 August 2017

1871-1878

1 reference

Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Hereditary proteinuria syndromes and mechanisms of proteinuria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Defective trafficking of nephrin missense mutants rescued by a chemical chaperone

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Signaling at the slit diaphragm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Podocin localizes in the kidney to the slit diaphragm area

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of 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=2551572

Interaction with podocin facilitates nephrin signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Predicting deleterious amino acid substitutions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Mutation spectrum in the nephrin gene (NPHS1) 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=2551572

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=2551572

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=2551572

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of 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=2551572

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=2551572

Improved splice site detection in Genie

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Prediction of human mRNA donor and acceptor sites from the DNA sequence

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2551572

Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18614772

12 December 2020

inferred from PubMed ID database lookup

Renal pathology in congenital nephrotic syndrome of Finnish type: a quantitative light microscopic study on 50 patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18614772

12 December 2020

inferred from PubMed ID database lookup

Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18614772

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1681/ASN.2008010059

1 reference

release_my2x7xr4y5ebbedj5ve4gze3mq

17 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/my2x7xr4y5ebbedj5ve4gze3mq

24 November 2022

mapped directly with Wikidata item

1 reference

17 August 2017

PubMed publication ID

18614772

1 reference