Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. (Q54101556)

24 May 2018

title

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. (English)

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24 May 2018

polycystic kidney disease

main subject

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polycystic kidney disease 1

inferred from title

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Sandro Rossetti

1

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24 May 2018

Dominique Chauveau

2

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24 May 2018

Vickie Kubly

3

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24 May 2018

Jeffrey M Slezak

4

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24 May 2018

Anand K Saggar-Malik

5

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24 May 2018

York Pei

6

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Albert C M Ong

7

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Fiona Stewart

8

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Michael L Watson

9

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Erik J Bergstralh

10

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24 May 2018

Christopher G Winearls

11

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24 May 2018

Vicente E Torres

12

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24 May 2018

Peter C Harris

13

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24 May 2018

language of work or name

English

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publication date

1 June 2003

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24 May 2018

number of pages

6

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inferred from page(s)

published in

The Lancet

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24 May 2018

volume

361

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24 May 2018

issue

9376

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24 May 2018

page(s)

2196-2201

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24 May 2018

Intracranial aneurysms in autosomal dominant polycystic kidney disease

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Intracranial aneurysms in autosomal dominant polycystic kidney disease

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Spontaneous artery dissection: is it part of the spectrum of autosomal dominant polycystic kidney disease?

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Familial clustering of ruptured intracranial aneurysms in autosomal dominant polycystic kidney disease

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Familial intracranial aneurysms

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The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

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https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2913773-7

7 January 2021

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

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Genetics and pathogenesis of polycystic kidney disease.

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Polycystin 1 is required for the structural integrity of blood vessels

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Cardiac defects and renal failure in mice with targeted mutations in Pkd2

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Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease

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7 January 2021

The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease

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Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

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7 January 2021

A complete mutation screen of the ADPKD genes by DHPLC

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7 January 2021

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

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The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

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Somatic inactivation of Pkd2 results in polycystic kidney disease

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7 January 2021

Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1

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7 January 2021

A latrophilin/CL-1-like GPS domain in polycystin-1

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7 January 2021

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

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7 January 2021

10.1016/S0140-6736(03)13773-7

Identifiers

DOI

1 reference

24 May 2018

PubMed ID

12842373

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24 May 2018