Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis (Q34577537)

3 August 2017

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis (English)

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focal segmental glomerulosclerosis

3 August 2017

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Matthew A Sparks

10

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Adebowale A. Adeyemo

object named as

Adebowale A Adeyemo

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author name string

Andrew F Malone

1

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3 August 2017

Paul J Phelan

2

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3 August 2017

Gentzon Hall

3

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3 August 2017

Umran Cetincelik

4

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3 August 2017

Alison Homstad

5

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3 August 2017

Andrea S Alonso

6

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3 August 2017

Ruiji Jiang

7

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3 August 2017

Thomas B Lindsey

8

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3 August 2017

Guanghong Wu

9

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3 August 2017

Stephen R Smith

11

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3 August 2017

Nicholas J A Webb

12

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3 August 2017

Philip A Kalra

13

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3 August 2017

Andrey S Shaw

15

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3 August 2017

Peter J Conlon

16

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3 August 2017

J Charles Jennette

17

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3 August 2017

David N Howell

18

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3 August 2017

Michelle P Winn

19

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3 August 2017

Rasheed A Gbadegesin

20

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3 August 2017

language of work or name

English

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publication date

17 September 2014

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3 August 2017

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3 August 2017

86

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3 August 2017

1253-1259

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3 August 2017

6

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https://scigraph.springernature.com/pub.10.1038/ki.2014.305

3 August 2017

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cites work

A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers

1 reference

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COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Current and emerging treatments for idiopathic focal and segmental glomerulosclerosis in adults

7 July 2018

1 reference

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Treatment of primary FSGS in adults

7 July 2018

1 reference

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SVA: software for annotating and visualizing sequenced human genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

A new locus for familial FSGS on chromosome 2p

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome

7 July 2018

1 reference

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Human podocytes adhere to the KRGDS motif of the alpha3alpha4alpha5 collagen IV network

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

7 July 2018

1 reference

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WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Clinical features of thin basement membrane disease and associated glomerulopathies.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4245465

Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation

27 October 2018

1 reference

12 December 2020

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

1 reference

12 December 2020

Signs and symptoms of thin basement membrane nephropathy: a prospective regional study on primary glomerular disease-The Limburg Renal Registry

1 reference

12 December 2020

Thin glomerular basement membrane nephropathy: incidence in 3471 consecutive renal biopsies examined by electron microscopy

1 reference

12 December 2020

Identifiers

DOI

10.1038/KI.2014.305

1 reference

Dimensions Publication ID

3 August 2017

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1 reference

3 August 2017

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