COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy (Q24297952)

glomerular basement membrane development

GOA release 2020-03-11

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focal segmental glomerulosclerosis

GOA release 2020-03-11

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13

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Konstantinos Voskarides

Konstantinos Voskarides

1

1 reference

ORCID Public Data File 2021

Ioanna Zouvani

4

Ioanna Zouvani

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Yiannis Athanasiou

8

Yiannis Athanasiou

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Alkis Pierides

11

Alkis Pierides

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Kyriacos Kyriacou

12

Kyriacos Kyriacou

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author name string

Loukas Damianou

2

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Vassos Neocleous

3

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Stalo Christodoulidou

5

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Valsamakis Hadjiconstantinou

6

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Kyriacos Ioannou

7

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Charalampos Patsias

9

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Efstathios Alexopoulos

Journal of the American Society of Nephrology

10

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language of work or name

English

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publication date

November 2007

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published in

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volume

18

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issue

11

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page(s)

3004-16

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cites work

Familial hematurias: what we know and what we don't

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Benign familial hematuria associated with a novel COL4A4 mutation

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Autosomal recessive Alport’s syndrome and benign familial hematuria are collagen type IV diseases

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

The epidemiology of thin basement membrane nephropathy

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

The clinical features of thin basement membrane nephropathy

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

The genetics of thin basement membrane nephropathy

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Thin basement membrane nephropathy associated with other glomerular diseases

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Filtrin is a novel member of nephrin-like proteins

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Thin basement membrane nephropathy

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Mutations in the COL4A4 gene in thin basement membrane disease

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

A WT1 co-regulator controls podocyte phenotype by shuttling between adhesion structures and nucleus

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Thin glomerular basement membranes in patients with hematuria and minimal change disease

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Mutation detection using a novel plant endonuclease

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Novel COL4A4 splice defect and in‐frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Clinical features of thin basement membrane disease and associated glomerulopathies.

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Thin basement membrane nephropathy

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy

1 reference

https://api.crossref.org/works/10.1681%2FASN.2007040444

7 January 2021

Identifiers

DOI

10.1681/ASN.2007040444

1 reference

Consolidated OpenCitations Corpus – April 2017

1557464

1557464

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference