Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. (Q35153173)

6 August 2017

title

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. (English)

1 reference

6 August 2017

Mihailo Vujic

1

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6 August 2017

Christina M Heyer

2

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6 August 2017

Elisabet Ars

3

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6 August 2017

Katharina Hopp

4

1 reference

6 August 2017

Arseni Markoff

5

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6 August 2017

Charlotte Orndal

6

1 reference

6 August 2017

Bengt Rudenhed

7

1 reference

6 August 2017

Samih H Nasr

8

1 reference

6 August 2017

Vicente E Torres

9

1 reference

6 August 2017

Roser Torra

10

1 reference

6 August 2017

Nadja Bogdanova

11

1 reference

6 August 2017

Peter C Harris

12

1 reference

6 August 2017

publication date

17 June 2010

1 reference

Journal of the American Society of Nephrology

6 August 2017

published in

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6 August 2017

volume

21

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6 August 2017

issue

7

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6 August 2017

page(s)

1097-1102

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

6 August 2017

1 reference

Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like 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=3152226

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Characterization of PKD protein-positive exosome-like vesicles

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Autosomal dominant polycystic kidney disease in the fetus.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152226

Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease

27 September 2018

1 reference

12 December 2020

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

1 reference

12 December 2020

Morphological and immunohistochemical analysis of ductal plate malformation: correlation with fetal liver

1 reference

12 December 2020

Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe

1 reference

12 December 2020

Polycystic kidney disease in the fetus

1 reference

12 December 2020

The spectrum of autosomal dominant polycystic kidney disease in children

1 reference

12 December 2020

Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes

1 reference

12 December 2020

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

1 reference

12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Identifiers

DOI

10.1681/ASN.2009101070

1 reference

6 August 2017

1 reference

6 August 2017

1 reference