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

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focal segmental glomerulosclerosis

7 March 2020

main subject

1 reference

3

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7 March 2020

author name string

Louis-Philippe Laurin

1

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7 March 2020

Mei Lu

2

1 reference

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7 March 2020

Elizabeth R Blyth

4

1 reference

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7 March 2020

Caroline J Poulton

5

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7 March 2020

Karen E Weck

6

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7 March 2020

language of work or name

English

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publication date

4 February 2014

1 reference

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Nephrology Dialysis Transplantation

7 March 2020

published in

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7 March 2020

volume

29

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7 March 2020

issue

11

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7 March 2020

page(s)

2062-2069

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Pathobiology of focal segmental glomerulosclerosis: new developments

7 March 2020

cites work

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

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Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

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

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

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

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

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

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

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

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

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

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