(Q44625753)

4 December 2017

title

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis (English)

1 reference

focal segmental glomerulosclerosis

4 December 2017

main subject

1 reference

1 reference

1 reference

Andrea Kerti

1

1 reference

4 December 2017

Rózsa Csohány

2

1 reference

4 December 2017

László Wagner

3

1 reference

4 December 2017

Eszter Jávorszky

4

1 reference

4 December 2017

Erika Maka

5

1 reference

4 December 2017

Kálmán Tory

6

1 reference

4 December 2017

publication date

26 June 2013

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4 December 2017

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4 December 2017

volume

28

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4 December 2017

issue

10

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4 December 2017

page(s)

2061-2064

1 reference

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

4 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

LOVD v.2.0: the next generation in gene variant databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

Genetic testing in renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-013-2542-4

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23800802

12 December 2020

inferred from PubMed ID database lookup

The blind kidney: disorders affecting kidneys and eyes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23800802

12 December 2020

inferred from PubMed ID database lookup

Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23800802

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00467-013-2542-4

1 reference

release_uysdcnexqvd77jokn4zxw2non4

4 December 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/uysdcnexqvd77jokn4zxw2non4

24 November 2022

mapped directly with Wikidata item

1 reference