Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. (Q34639646)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Roser Torra

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Elisabet Ars

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

Sheila Santín

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Bárbara Tazón-Vega

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

María Ángeles Cobo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Isabel Giménez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Patricia Ruíz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Rafael García-Maset

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

José Ballarín

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

FSGS Spanish Study Group

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

publication date

14 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

Clinical Journal of the American Society of Nephrology

15 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

344-354

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

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

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

NPHS2 variation in focal and segmental glomerulosclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

NPHS2 variation in sporadic focal segmental glomerulosclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Clustal W and Clustal X version 2.0

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Focal and segmental glomerulosclerosis: definition and relevance of a partial remission

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Broadening the spectrum of diseases related to podocin mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Human non-synonymous SNPs: server and survey

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Improved splice site detection in Genie

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Amino acid difference formula to help explain protein evolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Podocin organizes ion channel-lipid supercomplexes: implications for mechanosensation at the slit diaphragm.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

SNPStats: a web tool for the analysis of association studies.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052225

NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis

9 December 2018

1 reference

12 December 2020

NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome

1 reference

12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Focal segmental glomerulosclerosis

1 reference

12 December 2020

Molecular Analysis of NPHS2 and ACTN4 Genes in a Series of 33 Italian Patients Affected by Adult-Onset Nonfamilial Focal Segmental Glomerulosclerosis

1 reference

12 December 2020

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.03770410

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

release_z4vo2y46vzephme6ywzg3jruzm

15 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/z4vo2y46vzephme6ywzg3jruzm

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20947785%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference