Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. (Q36677399)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18216321%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18216321%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18216321%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Bernward Hinkes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18216321%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Christopher Vlangos

1 reference

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1 January 2020

Saskia Heeringa

1 reference

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1 January 2020

Rasheed Gbadegesin

1 reference

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1 January 2020

Jinhong Liu

1 reference

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1 January 2020

Katrin Hasselbacher

1 reference

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1 January 2020

Fatih Ozaltin

1 reference

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1 January 2020

Friedhelm Hildebrandt

1 reference

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1 January 2020

APN Study Group

1 reference

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1 January 2020

publication date

23 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18216321%20AND%20SRC:MED&resulttype=core&format=json

Journal of the American Society of Nephrology

1 January 2020

published in

1 reference

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1 January 2020

volume

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1 January 2020

issue

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1 January 2020

page(s)

365-371

1 reference

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

1 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

Intracellular mislocalization of mutant podocin and correction by chemical chaperones

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2396749

Getting a foothold in nephrotic syndrome

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18216321

12 December 2020

inferred from PubMed ID database lookup

Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18216321

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18216321

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1681/ASN.2007040452

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18216321%20AND%20SRC:MED&resulttype=core&format=json

release_pgkeegvhfbhsbnycxdcwcpc2kq

1 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pgkeegvhfbhsbnycxdcwcpc2kq

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18216321%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

PubMed publication ID

18216321

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18216321%20AND%20SRC:MED&resulttype=core&format=json