(Q24678335)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant polycystic kidney disease

6 November 2019

main subject

0 references

autosomal dominant polycystic kidney

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

B Veldhuisen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

S de Haij

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

T Hayashi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

D M Reynolds

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

T Mochizuki

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

R Elles

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

R Fossdal

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

N Bogdanova

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M A van Dijk

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

E Coto

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

D Ravine

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

S Nørby

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

C Verellen-Dumoulin

14

1 reference

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6 November 2019

M H Breuning

15

1 reference

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6 November 2019

S Somlo

16

1 reference

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6 November 2019

D J Peters

17

1 reference

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6 November 2019

language of work or name

English

0 references

publication date

1 September 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

6 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

61

1 reference

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6 November 2019

page(s)

547-555

1 reference

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6 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

PKD1 interacts with PKD2 through a probable coiled-coil domain

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Exon recognition in vertebrate splicing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Splicing of messenger RNA precursors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

The long walk toward the PKD1 gene. The European PKD1 Consortium

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Autosomal dominant polycystic kidney disease--more than a renal disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

A second-generation linkage map of the human genome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Defects in RNA splicing and the consequence of shortened translational reading frames

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Genetic heterogeneity of polycystic kidney disease in Bulgaria.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Possible locus for polycystic kidney disease on chromosome 2.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Autosomal dominant polycystic kidney disease: new information for genetic counselling

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Multilocus polycystic disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715954

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

28 November 2018

1 reference

12 December 2020

Intracranial aneurysms in polycystic kidney disease linked to chromosome 4

1 reference

12 December 2020

Liver cysts in patients with autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

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

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

1 reference

12 December 2020

Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene

1 reference

12 December 2020

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family

1 reference

12 December 2020

Intracranial aneurysms in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Analysis of a large family with the second type of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

The diagnosis and prognosis of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

12 December 2020

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

1 reference

7 January 2021

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

7 January 2021

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

7 January 2021

Autosomal-dominant polycystic kidney disease and hypertension: a review

1 reference

7 January 2021

Identifiers

DOI

10.1086/515497

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326320%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference