(Q63434594)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

focal segmental glomerulosclerosis

9 February 2020

main subject

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Elisabet Ars

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Roser Torra

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Sheila Santín

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Rafael García-Maset

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Patricia Ruíz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Isabel Giménez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Isabel Zamora

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Antonia Peña

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Gloria Fraga

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Ana Sánchez-Moreno

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Carmen Bernis

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Augusto Luque de Pablos

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Guillem Pintos

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Maria Luisa Justa

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Emilia Hidalgo-Barquero

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Patricia Fernández-Llama

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

José Ballarín

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Juan A Camacho

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Maria Angeles Cobo

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Alberto Ortiz

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

FSGS Spanish Study Group

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

7 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

1268-1276

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812541%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ki.2009.381

9 February 2020

exact match

0 references

cites work

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Management of congenital nephrotic syndrome of the Finnish type

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Nephrin promotes cell-cell adhesion through homophilic interactions

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Molecular basis of the glomerular filtration: nephrin and the emerging protein complex at the podocyte slit diaphragm

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

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).

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

NPHS2 variation in focal and segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Interaction with podocin facilitates nephrin signaling

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Pathologic classification of focal segmental glomerulosclerosis: a working proposal

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Amino acid difference formula to help explain protein evolution

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Clustal W and Clustal X version 2.0

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.381

7 January 2021