Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant (Q43501079)

24 November 2017

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

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24 November 2017

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Véronique Baudouin

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Corinne Antignac

object named as

Corinne Antignac

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Jean-Pierre Grünfeld

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object named as

Jean-Pierre Grünfeld

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24 November 2017

Eduardo Machuca

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24 November 2017

Aurélie Hummel

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24 November 2017

Fabien Nevo

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24 November 2017

Jacques Dantal

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Frank Martinez

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Essam Al-Sabban

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Véronique Baudouin

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24 November 2017

language of work or name

English

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publication date

14 January 2009

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24 November 2017

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75

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7

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727-735

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https://scigraph.springernature.com/pub.10.1038/ki.2008.650

24 November 2017

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cites work

Changing incidence of glomerular diseases in adults

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Focal and segmental glomerulosclerosis: definition and relevance of a partial remission

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

High incidence of initial and late steroid resistance in childhood nephrotic syndrome

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Focal segmental glomerulosclerosis

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Circulating factor associated with increased glomerular permeability to albumin in recurrent focal segmental glomerulosclerosis

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7 January 2021

Genetic models: clues for understanding the pathogenesis of idiopathic nephrotic syndrome

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Basic science meets clinical medicine: identification of a CD2AP-deficient patient

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

NEPH1 defines a novel family of podocin interacting proteins

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Podocin and MEC-2 bind cholesterol to regulate the activity of associated ion channels

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Podocin organizes ion channel-lipid supercomplexes: implications for mechanosensation at the slit diaphragm.

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

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).

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Broadening the spectrum of diseases related to podocin mutations

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Early glomerular filtration defect and severe renal disease in podocin-deficient mice

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome

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https://api.crossref.org/works/10.1038%2FKI.2008.650

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.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

NPHS2 variation in sporadic focal segmental glomerulosclerosis

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Clinical course and NPHS2 analysis in patients with late steroid-resistant nephrotic syndrome

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

A simple estimate of glomerular filtration rate in full-term infants during the first year of life

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Prediction of deleterious human alleles

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Accounting for human polymorphisms predicted to affect protein function

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https://api.crossref.org/works/10.1038%2FKI.2008.650

7 January 2021

Identifiers

DOI

10.1038/KI.2008.650

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Dimensions Publication ID

24 November 2017

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