(Q34500168)

2 August 2017

title

Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease (English)

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2 August 2017

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Manoe J Janssen

1

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2 August 2017

Jody Salomon

series ordinal

2

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2 August 2017

René H M Te Morsche

series ordinal

3

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2 August 2017

Joost P H Drenth

series ordinal

4

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2 August 2017

language of work or name

English

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publication date

28 November 2012

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2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

11

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2 August 2017

page(s)

e50324

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

28 November 2012

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

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Somatic deletions of genes regulating MSH2 protein stability cause DNA mismatch repair deficiency and drug resistance in human leukemia cells

7 July 2018

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Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease.

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

7 July 2018

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A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

7 July 2018

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SDHA is a tumor suppressor gene causing paraganglioma

7 July 2018

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Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Somatic LKB1 mutations promote cervical cancer progression

7 July 2018

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Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Polycystic liver disease is a disorder of cotranslational protein processing.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Mutations in SEC63 cause autosomal dominant polycystic liver disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Improved resolution by mounting of tissue sections for laser microdissection

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

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

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Two-sided confidence intervals for the single proportion: comparison of seven methods

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.

7 July 2018

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Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050324

Disrupted cell adhesion but not proliferation mediates cyst formation in polycystic liver disease.

21 January 2018

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Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050324

Laparoscopic fenestration of liver cysts in polycystic liver disease results in a median volume reduction of 12.5%.

21 January 2018

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Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050324

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

21 January 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3508994

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

27 October 2018

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12 December 2020

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant 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

Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease

1 reference

12 December 2020

Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0050324

Identifiers

DOI

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2 August 2017

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2 August 2017

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