Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease (Q42927109)

11 November 2017

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

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11 November 2017

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8

Lesley Rees

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11 November 2017

Sandro Rossetti

1

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11 November 2017

Vickie J Kubly

2

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11 November 2017

Mark B Consugar

3

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11 November 2017

Katharina Hopp

4

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11 November 2017

Sushmita Roy

5

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11 November 2017

Sharon W Horsley

6

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11 November 2017

Dominique Chauveau

7

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11 November 2017

T Martin Barratt

9

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11 November 2017

William G van't Hoff

10

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11 November 2017

Patrick Niaudet

11

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11 November 2017

Vicente E Torres

12

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11 November 2017

Peter C Harris

13

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11 November 2017

language of work or name

English

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publication date

21 January 2009

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11 November 2017

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11 November 2017

75

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11 November 2017

848-855

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11 November 2017

8

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https://scigraph.springernature.com/pub.10.1038/ki.2008.686

11 November 2017

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cites work

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

27 May 2018

1 reference

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A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Determinants of renal volume in autosomal-dominant polycystic kidney disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

The PLAT domain: a new piece in the PKD1 puzzle

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Anticipation of age at renal death in autosomal dominant polycystic kidney disease (ADPKD)?

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Autosomal dominant polycystic kidney disease in the fetus.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Amino acid difference formula to help explain protein evolution

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

Evidence of Oligogenic Inheritance in Nephronophthisis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2813773

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

1 December 2018

1 reference

12 December 2020

Somatic inactivation of Pkd2 results in polycystic kidney disease

1 reference

12 December 2020

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

1 reference

12 December 2020

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

1 reference

12 December 2020

Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?

1 reference

12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation

1 reference

12 December 2020

Identifiers

DOI

10.1038/KI.2008.686

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Dimensions Publication ID

11 November 2017

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11 November 2017

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