A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. (Q33868896)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant polycystic kidney disease

10 December 2019

main subject

0 references

autosomal dominant polycystic kidney

1 reference

Xavier Estivill i Pallejà

inferred from title

author

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Roser Torra

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Celia Badenas

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

author name string

San Millán JL

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Pérez-Oller L

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Darnell A

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 August 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

345-352

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

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

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

PKD1 interacts with PKD2 through a probable coiled-coil domain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Identification and localization of polycystin, the PKD1 gene product

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Hereditary polycystic kidney disease (adult form): a microdissection study of two cases at an early stage of the disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377933

Somatic inactivation of Pkd2 results in polycystic kidney disease

29 October 2018

1 reference

12 December 2020

A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds

1 reference

12 December 2020

Somatic mutations are frequent and increase with age in human kidney epithelial cells

1 reference

12 December 2020

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

1 reference

12 December 2020

The diagnosis and prognosis of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

12 December 2020

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease with minimal clinical expression unlinked to the PKD1 locus

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

1 reference

12 December 2020

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

1 reference

12 December 2020

Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium)

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/302501

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417277%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference