NPHS2 variation in focal and segmental glomerulosclerosis (Q33372592)

26 July 2017

NPHS2 variation in focal and segmental glomerulosclerosis (English)

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26 July 2017

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Judy Savige

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author name string

Stephen J Tonna

1

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26 July 2017

Alexander Needham

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26 July 2017

Krishna Polu

3

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26 July 2017

Andrea Uscinski

4

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26 July 2017

Gerald B Appel

5

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26 July 2017

Ronald J Falk

6

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26 July 2017

Avi Katz

7

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26 July 2017

Salah Al-Waheeb

8

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26 July 2017

Bernard S Kaplan

9

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26 July 2017

George Jerums

10

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26 July 2017

Jennifer Harmon

12

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26 July 2017

Kang Zhang

13

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26 July 2017

Gary C Curhan

14

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26 July 2017

Martin R Pollak

15

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26 July 2017

language of work or name

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29 September 2008

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26 July 2017

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26 July 2017

9

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https://scigraph.springernature.com/pub.10.1186/1471-2369-9-13

26 July 2017

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cites work

NPHS2 variation in sporadic focal segmental glomerulosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

Twenty-one-year trend in ESRD due to focal segmental glomerulosclerosis in the United States

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

Broadening the spectrum of diseases related to podocin mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

21 June 2018

The Nurses' Health Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2569023

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

Clinical features and outcome of childhood minimal change nephrotic syndrome: is genetics involved?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

The diabetes prevention program and its global implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2369-9-13

Controlling the epidemic of cardiovascular disease in chronic renal disease: what do we know? What do we need to learn? Where do we go from here? National Kidney Foundation Task Force on Cardiovascular Disease

21 January 2018

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

NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2369-9-13

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Dimensions Publication ID

26 July 2017

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26 July 2017

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