(Q33926310)

30 July 2017

title

A missense mutation in PKD1 attenuates the severity of renal disease (English)

1 reference

30 July 2017

1 reference

Gregory Germino

8

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author name string

York Pei

1

1 reference

30 July 2017

Zheng Lan

2

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30 July 2017

Kairong Wang

3

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30 July 2017

Miguel Garcia-Gonzalez

4

1 reference

30 July 2017

Ning He

5

1 reference

30 July 2017

Elizabeth Dicks

6

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30 July 2017

Patrick Parfrey

7

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30 July 2017

Terry Watnick

9

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30 July 2017

language of work or name

English

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publication date

26 October 2011

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30 July 2017

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30 July 2017

volume

81

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30 July 2017

issue

4

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30 July 2017

page(s)

412-417

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Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Diagnosis and screening of autosomal dominant polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Molecular diagnostics for autosomal dominant polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Assessing kidney function--measured and estimated glomerular filtration rate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Defining a link with autosomal-dominant polycystic kidney disease in mice with congenitally low expression of Pkd1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Modifier genes play a significant role in the phenotypic expression of PKD1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Molecular pathogenesis of ADPKD: the polycystin complex gets complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Genetics and pathogenesis of polycystic kidney disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Prediction of deleterious human alleles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105019

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=4105019

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

29 October 2018

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

12 December 2020

Somatic inactivation of Pkd2 results in polycystic kidney disease

1 reference

12 December 2020

Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

1 reference

12 December 2020

Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples

1 reference

12 December 2020

A complete mutation screen of the ADPKD genes by DHPLC

1 reference

12 December 2020

Identifiers

DOI

10.1038/KI.2011.370

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Dimensions Publication ID

30 July 2017

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30 July 2017

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