(Q81826543)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

author name string

Stephen Tonna

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Yan Yan Wang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Diane Wilson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Lin Rigby

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Tania Tabone

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Richard Cotton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

publication date

26 August 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

page(s)

2201-2207

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18726620%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00467-008-0934-7

12 January 2020

exact match

0 references

cites work

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

1 reference

12 December 2020

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

1 reference

12 December 2020

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene

1 reference

12 December 2020

Association of thin glomerular basement membrane with other glomerulopathies

1 reference

12 December 2020

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

1 reference

12 December 2020

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

1 reference

12 December 2020

The association of IgA glomerulonephritis and thin glomerular basement membrane disease in a hematuric patient: light and electron microscopic and immunofluorescence investigation

1 reference

12 December 2020

Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure

1 reference

12 December 2020

Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.

1 reference

12 December 2020

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

1 reference

12 December 2020

Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.

1 reference

12 December 2020

Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy

1 reference

12 December 2020

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

1 reference

12 December 2020

Mutations in the COL4A4 gene in thin basement membrane disease

1 reference

12 December 2020

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical, histopathologic, and genetic studies in nine families with focal segmental glomerulosclerosis.

1 reference

12 December 2020

Involvement of lipid rafts in nephrin phosphorylation and organization of the glomerular slit diaphragm

1 reference

12 December 2020

Red cell traverse through thin glomerular basement membranes

1 reference

12 December 2020

NPHS2 R229Q functional variant is associated with microalbuminuria in the general population

1 reference

12 December 2020

Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome

1 reference

12 December 2020

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

12 December 2020

Signs and symptoms of thin basement membrane nephropathy: a prospective regional study on primary glomerular disease-The Limburg Renal Registry

1 reference

12 December 2020

Hematuria: a simple method for identifying glomerular bleeding.

1 reference

12 December 2020

Thin basement membrane nephropathy

1 reference

12 December 2020

COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).

1 reference

12 December 2020

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

1 reference

12 December 2020