Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. (Q30384755)

14 October 2017

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

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14 October 2017

polycystic liver disease

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E Waanders

1

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14 October 2017

H Venselaar

2

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14 October 2017

R H M te Morsche

3

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14 October 2017

D B de Koning

4

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14 October 2017

P S Kamath

5

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14 October 2017

V E Torres

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14 October 2017

S Somlo

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14 October 2017

J P H Drenth

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14 October 2017

language of work or name

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20 January 2010

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14 October 2017

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78

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1

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14 October 2017

47-56

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PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Clustal W and Clustal X version 2.0

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Polycystic liver disease is a disorder of cotranslational protein processing.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Mutations in SEC63 cause autosomal dominant polycystic liver disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

SIFT: Predicting amino acid changes that affect protein function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Clinical profile of autosomal dominant polycystic liver disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Human non-synonymous SNPs: server and survey

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Proteins of the endoplasmic-reticulum-associated degradation pathway: domain detection and function prediction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

The PSIPRED protein structure prediction server

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Mammalian Sec61 is associated with Sec62 and Sec63

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Protein secondary structure prediction based on position-specific scoring matrices

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Improved Splice Site Detection in Genie

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

The rate of hydrolytic deamination of 5-methylcytosine in double-stranded DNA

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation"

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Intragenic DNA methylation alters chromatin structure and elongation efficiency in mammalian cells

20 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Standardizing mutation nomenclature: why bother?

26 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Susceptibility of nonpromoter CpG islands to de novo methylation in normal and neoplastic cells

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127811

Quaternary and domain structure of glycoprotein processing glucosidase II

26 November 2018

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12 December 2020

Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families

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12 December 2020

Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2

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12 December 2020

Proof of “disease causing” mutation

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12 December 2020

Sequence-based prediction of pathological mutations

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12 December 2020

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

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12 December 2020

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

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12 December 2020

10.1111/J.1399-0004.2009.01353.X

Identifiers

DOI

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14 October 2017

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14 October 2017

PubMed publication ID

20095989

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