(Q34787771)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Aldesia Provenzano

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Benedetta Mazzinghi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Francesca Becherucci

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Mario Rotondi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Luisa Murer

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Elena Lazzeri

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Laura Lasagni

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Paola Romagnani

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

5

Laura Giunti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

6

Giulia Sansavini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

7

Fiammetta Ravaglia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

8

Rosa Maria Roperto

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

10

Elisa Benetti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

15

Marco Materassi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Silvia Farsetti

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

publication date

24 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

Journal of the American Society of Nephrology

10 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

230-236

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

10 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Recent progress in the pathophysiology and treatment of FSGS recurrence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Circulating suPAR in two cohorts of primary FSGS.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

New developments in steroid-resistant nephrotic syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Characterization of renal progenitors committed toward tubular lineage and their regenerative potential in renal tubular injury

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Recurrent focal segmental glomerulosclerosis: a discrete clinical entity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Nephrotic syndrome in children: from bench to treatment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Genetics of proteinuria: an overview of gene mutations associated with nonsyndromic proteinuric glomerulopathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Carrier testing for severe childhood recessive diseases by next-generation sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Exome sequencing: the sweet spot before whole genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

8 July 2018

Genetic kidney diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Properties of the glomerular barrier and mechanisms of proteinuria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Expression profile of nephrin, podocin, and CD2AP in Chinese children with MCNS and IgA nephropathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Hereditary proteinuria syndromes and mechanisms of proteinuria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Nail patella syndrome: a review of the phenotype aided by developmental biology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Next-generation sequencing for clinical diagnostics

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 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=4279734

Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279734

Rare functional variants of podocin (NPHS2) promoter in patients with 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=4279734

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=4279734

The spectrum of FSGS: does pathology matter?

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25060053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25060053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25060053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2013111155

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25060053%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference