Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. (Q38255110)

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20 February 2020

review article

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title

Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on (English)

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autosomal dominant polycystic kidney disease

20 February 2020

main subject

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autosomal dominant polycystic kidney

inferred from title

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3

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20 February 2020

author name string

Emilie Cornec-Le Gall

1

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20 February 2020

Marie-Pierre Audrézet

2

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20 February 2020

Jian-Min Chen

4

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20 February 2020

Claude Férec

5

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20 February 2020

publication date

1 December 2014

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20 February 2020

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20 February 2020

volume

35

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20 February 2020

issue

12

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20 February 2020

page(s)

1393-1406

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PKD1 haploinsufficiency causes a syndrome of inappropriate antidiuresis in mice

20 February 2020

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Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways

21 January 2018

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Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease

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Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group

21 January 2018

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Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

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Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin

21 January 2018

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Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease

21 January 2018

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Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

21 January 2018

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Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease

21 January 2018

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Genetic variation of DKK3 may modify renal disease severity in ADPKD.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

21 January 2018

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7 January 2021

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7 January 2021

Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease

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7 January 2021

What is the role of somatic mutation in autosomal dominant polycystic kidney disease?

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7 January 2021

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease

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Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

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7 January 2021

Modifier effect of the Glu298Asp polymorphism of endothelial nitric oxide synthase gene in autosomal-dominant polycystic kidney disease

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7 January 2021

Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1

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7 January 2021

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

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Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients

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An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

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7 January 2021

Two novel mutations affecting the same splice site of PKD1 correlate with different phenotypes in ADPKD

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Identifiers

DOI

10.1002/HUMU.22708

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25263802%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference