(Q37289211)

19 August 2017

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome (English)

1 reference

19 August 2017

0 references

Saskia F Heeringa

1

1 reference

19 August 2017

Christopher N Vlangos

2

1 reference

19 August 2017

Gil Chernin

3

1 reference

19 August 2017

Bernward Hinkes

4

1 reference

19 August 2017

Rasheed Gbadegesin

5

1 reference

19 August 2017

Jinhong Liu

6

1 reference

19 August 2017

Bethan E Hoskins

7

1 reference

19 August 2017

Fatih Ozaltin

8

1 reference

19 August 2017

Friedhelm Hildebrandt

9

1 reference

19 August 2017

Members of the APN Study Group

10

1 reference

19 August 2017

language of work or name

English

0 references

publication date

23 May 2008

1 reference

Nephrology Dialysis Transplantation

19 August 2017

1 reference

19 August 2017

23

1 reference

19 August 2017

11

1 reference

19 August 2017

3527-3533

1 reference

Molecular basis of the glomerular filtration: nephrin and the emerging protein complex at the podocyte slit diaphragm

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

Nephrin promotes cell-cell adhesion through homophilic interactions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

Nephrin is specifically located at the slit diaphragm of glomerular podocytes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

Congenital nephrotic syndrome of Finnish type. Study of 75 patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

Heredity in the congenital nephrotic syndrome. A genetic study of 57 finnish FAMILIES WITH A REVIEW OF REPORTED CASES

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2720813

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients

3 September 2018

1 reference

12 December 2020

A familial childhood-onset relapsing nephrotic syndrome

1 reference

12 December 2020

Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Arbeitsgemeinschaft für Pädiatrische Nephrologie

1 reference

12 December 2020

Graft function 5-7 years after renal transplantation in early childhood

1 reference

12 December 2020

Glomerular sclerosis in kidneys with congenital nephrotic syndrome (NPHS1)

1 reference

12 December 2020

Identifiers

DOI

10.1093/NDT/GFN271

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

18503012

1 reference