(Q51163489)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

focal segmental glomerulosclerosis

7 March 2020

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

Louis-Philippe Laurin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Mei Lu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Elizabeth R Blyth

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Caroline J Poulton

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Karen E Weck

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

language of work or name

English

0 references

publication date

4 February 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

Nephrology Dialysis Transplantation

7 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

2062-2069

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500309%20AND%20SRC:MED&resulttype=core&format=json

Pathobiology of focal segmental glomerulosclerosis: new developments

7 March 2020

cites work

1 reference

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Pathologic classification of focal segmental glomerulosclerosis

21 January 2018

1 reference

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Clinical and pathologic characteristics of focal segmental glomerulosclerosis pathologic variants

21 January 2018

1 reference

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The changing face of childhood nephrotic syndrome

21 January 2018

1 reference

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Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice

21 January 2018

1 reference

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A new equation to estimate glomerular filtration rate

21 January 2018

1 reference

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New equations to estimate GFR in children with CKD

21 January 2018

1 reference

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

21 January 2018

1 reference

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Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome

21 January 2018

1 reference

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Broadening the spectrum of diseases related to podocin mutations

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome

21 January 2018

1 reference

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Genetic screening in adolescents with steroid-resistant nephrotic syndrome

21 January 2018

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TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

21 January 2018

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TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

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ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.

21 January 2018

1 reference

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Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

21 January 2018

1 reference

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Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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/10.1093%2FNDT%2FGFT532

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

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

21 January 2018

1 reference

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Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

21 January 2018

1 reference

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Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

APOL1 variants associate with increased risk of CKD among African Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

The MYH9/APOL1 region and chronic kidney disease in European-Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

Association of trypanolytic ApoL1 variants with kidney disease in African Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

APOL1 variants increase risk for FSGS and HIVAN but not IgA nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

APOL1 localization in normal kidney and nondiabetic kidney disease

21 January 2018

1 reference

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Apolipoprotein L1 risk variants associate with systemic lupus erythematosus-associated collapsing glomerulopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFT532

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

21 January 2018

1 reference

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Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

21 January 2018

1 reference

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