No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. (Q53886868)

22 May 2018

title

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

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22 May 2018

author

Roger C Wiggins

4

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22 May 2018

Bettina Mucha

object named as

Bettina E Mucha

3

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author name string

Michael Schultheiss

1

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22 May 2018

Rainer G Ruf

2

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22 May 2018

Arno Fuchshuber

5

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22 May 2018

Anne Lichtenberger

6

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22 May 2018

Friedhelm Hildebrandt

7

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22 May 2018

publication date

1 December 2004

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22 May 2018

published in

Pediatric Nephrology

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22 May 2018

volume

19

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22 May 2018

issue

12

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22 May 2018

page(s)

1340-1348

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22 May 2018

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

cites work

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Renal pathology of fetuses with congenital nephrotic syndrome of the Finnish type. A qualitative and quantitative light microscopic study

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12 December 2020

Interaction with podocin facilitates nephrin signaling

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12 December 2020

Spontaneous remission of congenital nephrotic syndrome: a case report and review of the literature

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12 December 2020

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

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12 December 2020

Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population

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12 December 2020

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

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12 December 2020

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients

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12 December 2020

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

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12 December 2020

Renal pathology in congenital nephrotic syndrome of Finnish type: a quantitative light microscopic study on 50 patients

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12 December 2020

Getting a foothold in nephrotic syndrome

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12 December 2020

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

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12 December 2020

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Congenital nephrotic syndrome of Finnish type. Study of 75 patients

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12 December 2020

Caught flat-footed: podocyte damage and the molecular bases of focal glomerulosclerosis

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12 December 2020

Main features of the congenital nephrotic syndrome.

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12 December 2020

Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach

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12 December 2020

Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Arbeitsgemeinschaft für Pädiatrische Nephrologie

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12 December 2020

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

1 reference

12 December 2020

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

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12 December 2020

Broadening the spectrum of diseases related to podocin mutations

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12 December 2020

Intracellular mislocalization of mutant podocin and correction by chemical chaperones

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12 December 2020

10.1007/S00467-004-1629-3

Identifiers

DOI

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22 May 2018

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22 May 2018