NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms (Q34409698)

2 August 2017

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title

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms (English)

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2 August 2017

1

Gianluca Caridi

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2 August 2017

Francesco Perfumo

2

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2 August 2017

Gian Marco Ghiggeri

series ordinal

3

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2 August 2017

language of work or name

English

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publication date

6 April 2005

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2 August 2017

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2 August 2017

57

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2 August 2017

5 Pt 2

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2 August 2017

54R-61R

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https://scigraph.springernature.com/pub.10.1203/01.pdr.0000160446.01907.b1

2 August 2017

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Steroid responsive nephrotic syndrome is more common in Asians

21 January 2018

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Distinguishing minimal-change disease from mesangial disorders

21 January 2018

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IgM nephropathy: clinical picture and long-term prognosis.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Nephrin is specifically located at the slit diaphragm of glomerular podocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000160446.01907.B1

Interaction with podocin facilitates nephrin signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000160446.01907.B1

Podocin localizes in the kidney to the slit diaphragm area

21 January 2018

1 reference

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

21 January 2018

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Broadening the spectrum of diseases related to podocin mutations

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Cloning of rat homologue of podocin: expression in proteinuric states and in developing glomeruli

21 January 2018

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Nephrin redistribution on podocytes is a potential mechanism for proteinuria in patients with primary acquired nephrotic syndrome

21 January 2018

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Nephrin expression is reduced in human diabetic nephropathy: evidence for a distinct role for glycated albumin and angiotensin II.

21 January 2018

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Expression of podocyte-associated molecules in acquired human kidney diseases

21 January 2018

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Gene Expression Profiles of Podocyte-Associated Molecules as Diagnostic Markers in Acquired Proteinuric Diseases

21 January 2018

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

21 January 2018

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Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin

21 January 2018

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CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

21 January 2018

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Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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Two gene fragments that direct podocyte-specific expression in transgenic mice.

21 January 2018

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The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

21 January 2018

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Recurrent focal glomerulosclerosis: natural history and response to therapy

21 January 2018

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Plasmapheresis reduces proteinuria and serum capacity to injure glomeruli in patients with recurrent focal glomerulosclerosis

21 January 2018

1 reference

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Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

21 January 2018

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NPHS2 mutation associated with recurrence of proteinuria after transplantation

21 January 2018

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Podocyte-associated molecules in puromycin aminonucleoside nephrosis of the rat.

21 January 2018

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In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation

21 January 2018

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Podocyte-specific expression of cre recombinase in transgenic mice

21 January 2018

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Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

21 January 2018

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Depletion of clusterin in renal diseases causing nephrotic syndrome

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000160446.01907.B1

Permeability plasma factors in nephrotic syndrome: more than one factor, more than one inhibitor

21 January 2018

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Prediction and treatment of recurrent focal segmental glomerulosclerosis after renal transplantation in children

21 January 2018

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10.1203/01.PDR.0000160446.01907.B1

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

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1 reference