(Q28116208)

4 January 2017

title

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

1 reference

NPHS2 stomatin family member, podocin

4 January 2017

main subject

1 reference

GOA release 2020-03-11

excretion

1 reference

GOA release 2020-03-11

1 reference

K. Dahan

7

0 references

Marie-Claire Gubler

1 reference

ORCID Public Data File 2021

author name string

N. Boute

1

1 reference

4 January 2017

O. Gribouval

2

1 reference

4 January 2017

S. Roselli

3

1 reference

4 January 2017

F. Benessy

4

1 reference

4 January 2017

H. Lee

5

1 reference

4 January 2017

A. Fuchshuber

6

1 reference

4 January 2017

M. C. Gubler

8

1 reference

4 January 2017

P. Niaudet

9

1 reference

4 January 2017

C. Antignac

10

1 reference

4 January 2017

language of work or name

English

0 references

publication date

1 April 2000

1 reference

4 January 2017

1 reference

4 January 2017

volume

24

1 reference

4 January 2017

issue

4

1 reference

4 January 2017

page(s)

349–354

1 reference

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

4 January 2017

cites work

1 reference

7 January 2021

Nephrin is specifically located at the slit diaphragm of glomerular podocytes

1 reference

7 January 2021

Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney

1 reference

7 January 2021

Nephrin localizes to the slit pore of the glomerular epithelial cell

1 reference

7 January 2021

A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13

1 reference

7 January 2021

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

1 reference

7 January 2021

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

1 reference

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

7 January 2021

Interpreting cDNA sequences: some insights from studies on translation

1 reference

7 January 2021

Predicting Pol II promoter sequences using transcription factor binding sites

1 reference

7 January 2021

The PROSITE database, its status in 1995.

1 reference

7 January 2021

A knowledge base for predicting protein localization sites in eukaryotic cells

1 reference

7 January 2021

Cysteine 29 is the major palmitoylation site on stomatin

1 reference

7 January 2021

Early Homo and associated artefacts from Asia

1 reference

7 January 2021

Stomatin, a MEC-2 like protein, is expressed by mammalian sensory neurons

1 reference

7 January 2021

Identification of the phosphorylation site on human erythrocyte band 7 integral membrane protein: implications for a monotopic protein structure.

1 reference

7 January 2021

Oligomeric nature of the integral membrane protein stomatin

1 reference

7 January 2021

p42/44 MAP kinase-dependent and -independent signaling pathways regulate caveolin-1 gene expression. Activation of Ras-MAP kinase and protein kinase a signaling cascades transcriptionally down-regulates caveolin-1 promoter activity

1 reference

7 January 2021

Congenital nephrotic syndrome in mice lacking CD2-associated protein

1 reference

7 January 2021

CMS: an adapter molecule involved in cytoskeletal rearrangements

1 reference

7 January 2021

The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1

1 reference

7 January 2021

Prevalence and causes of albuminuria in non-insulin-dependent diabetic patients

1 reference

7 January 2021

Obesity-associated focal segmental glomerulosclerosis: pathological features of the lesion and relationship with cardiomegaly and hyperlipidemia

1 reference

7 January 2021

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

1 reference

7 January 2021

Characterization of somatic cell hybrids by bivariate flow karyotyping and fluorescence in situ hybridization

1 reference

7 January 2021

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

1 reference

7 January 2021

Human acyl-CoA:cholesterol acyltransferase-1 (ACAT-1) gene organization and evidence that the 4.3-kilobase ACAT-1 mRNA is produced from two different chromosomes

1 reference

7 January 2021

Basic local alignment search tool

1 reference

7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

7 January 2021

Presymptomatic diagnosis of familial steroid-resistant riephrotic syndrome

1 reference

7 January 2021

Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021