(Q34390736)

1 August 2017

title

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. (English)

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autosomal dominant polycystic kidney disease

1 August 2017

main subject

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autosomal dominant polycystic kidney

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R Thomas

1

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1 August 2017

R McConnell

2

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1 August 2017

J Whittacker

3

1 reference

1 August 2017

P Kirkpatrick

4

1 reference

1 August 2017

J Bradley

5

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1 August 2017

R Sandford

6

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1 August 2017

language of work or name

English

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publication date

1 July 1999

1 reference

American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

65

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1 August 2017

issue

1

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1 August 2017

page(s)

39-49

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

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

Is there a third gene for autosomal dominant polycystic kidney disease?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

Gene conversion is a likely cause of mutation in PKD1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

Mutation detection in the repeated part of the PKD1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

Sequence and transcriptional analysis of a DNA region involved in the production of capsular polysaccharide in Streptococcus pneumoniae type 3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

Autosomal dominant polycystic kidney disease: molecular analysis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

The immunoglobulin fold. Structural classification, sequence patterns and common core

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378073

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

27 October 2018

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

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

Detection of translation terminating mutations in the PKD1 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene

1 reference

12 December 2020

Proof of "disease causing" mutation

1 reference

12 December 2020

The Immunoglobulin Fold

1 reference

12 December 2020

Identifiers

DOI

10.1086/302460

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1 August 2017

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1 August 2017

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