(Q53879309)

English

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

scientific article published in June 2000

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. (English)

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Peter Henry St George-Hyslop

7

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

author name string

Watnick T

1

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

He N

2

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

Wang K

3

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

Liang Y

4

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

Parfrey P

5

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

Hefferton D

6

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

Germino G

8

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

Pei Y

9

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

language of work or name

0 references

publication date

1 June 2000

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

Nature Genetics

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

25

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

143-144

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

2

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

https://scigraph.springernature.com/pub.10.1038/75981

0 references

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

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic inactivation of Pkd2 results in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and localization of polycystin, the PKD1 gene product

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of renal cyst formation--one hit or two?

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

PKD1 interacts with PKD2 through a probable coiled-coil domain

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F75981

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

1 reference

Europe PubMed Central

22 May 2018

http://europepmc.org/abstract/MED/10835625

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q53879309&oldid=2042891398"