Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome (Q57203706)

11

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Olivier Gribouval

object named as

Olivier Gribouval

5

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Corinne Antignac

object named as

Corinne Antignac

13

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author name string

Kálmán Tory

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Dóra K Menyhárd

2

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Stéphanie Woerner

3

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Fabien Nevo

4

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Andrea Kerti

6

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Pál Stráner

7

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Evelyne Huynh Cong

9

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Tivadar Tulassay

10

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András Perczel

https://scigraph.springernature.com/pub.10.1038/ng.2898

12

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language of work or name

English

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publication date

9 February 2014

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published in

Nature Genetics

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volume

46

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issue

3

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page(s)

299-304

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exact match

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cites work

Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study

1 reference

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

21 January 2018

1 reference

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

21 January 2018

1 reference

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Interaction with podocin facilitates nephrin signaling

21 January 2018

1 reference

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

21 January 2018

1 reference

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations

21 January 2018

1 reference

Oligomeric nature of the integral membrane protein stomatin

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

NPHS2 variation in focal and segmental glomerulosclerosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome

21 January 2018

1 reference

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

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

21 January 2018

1 reference

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

Nephrin and podocin dissociate at the onset of proteinuria in experimental membranous nephropathy.

21 January 2018

1 reference

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.

21 January 2018

1 reference

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

21 January 2018

1 reference

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children

21 January 2018

1 reference

Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation

21 January 2018

1 reference

Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane

21 January 2018

1 reference

Crystal structure of a core domain of stomatin from Pyrococcus horikoshii Illustrates a novel trimeric and coiled-coil fold

21 January 2018

1 reference

CC+: a relational database of coiled-coil structures.

21 January 2018

1 reference

GROMACS 4: Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation

21 January 2018

1 reference

Extending the treatment of backbone energetics in protein force fields: limitations of gas-phase quantum mechanics in reproducing protein conformational distributions in molecular dynamics simulations

21 January 2018

1 reference

Implementation of the CHARMM Force Field in GROMACS: Analysis of Protein Stability Effects from Correction Maps, Virtual Interaction Sites, and Water Models.

21 January 2018

1 reference

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

21 January 2018

1 reference

Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome

21 January 2018

1 reference

12 December 2020

Treatment of the idiopathic nephrotic syndrome: regimens and outcomes in children and adults

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

A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression.

1 reference

12 December 2020

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Steroid-resistant nephrotic syndrome

1 reference

12 December 2020

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation

1 reference

12 December 2020

A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome

1 reference

12 December 2020

NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis

1 reference

12 December 2020

Genetic forms of nephrotic syndrome: a single-center experience in Brussels

1 reference

12 December 2020

Intracellular mislocalization of mutant podocin and correction by chemical chaperones

1 reference

12 December 2020