Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life (Q37413968)

20 August 2017

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title

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life (English)

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20 August 2017

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Friedhelm Hildebrandt

series ordinal

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20 August 2017

Saskia F Heeringa

series ordinal

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20 August 2017

language of work or name

English

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publication date

1 April 2009

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20 August 2017

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20 August 2017

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20 August 2017

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20 August 2017

page(s)

669-671

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

20 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

Hereditary proteinuria syndromes and mechanisms of proteinuria

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

The spectrum of podocytopathies: a unifying view of glomerular diseases.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

A missense mutation in podocin leads to early and severe renal disease in mice

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https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

NPHS2 variation in sporadic focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

Broadening the spectrum of diseases related to podocin mutations

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.693

7 January 2021

Identifiers

DOI

10.1038/KI.2008.693

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20 August 2017

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