(Q33770688)

29 July 2017

title

Mutations in TJP2 cause progressive cholestatic liver disease (English)

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29 July 2017

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7

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29 July 2017

Melissa Sambrotta

1

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Lucy J Newbury

Lucy J Newbury

8

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Tassos Grammatikopoulos

Tassos Grammatikopoulos

11

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David Parry

David A Parry

6

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Richard J. Thompson

Richard J Thompson

23

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Simon C Ling

Simon Ling

10

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Michael Simpson

Michael A Simpson

University of Washington Center for Mendelian Genomics

20

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16

University of Washington Center for Mendelian Genomics

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29 July 2017

19

Patricia McClean

1 reference

29 July 2017

Sandra Strautnieks

2

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29 July 2017

Efterpi Papouli

3

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29 July 2017

Peter Rushton

4

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29 July 2017

Barnaby E Clark

5

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29 July 2017

Binita M Kamath

9

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29 July 2017

Bart E Wagner

12

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29 July 2017

John C Magee

13

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29 July 2017

Ronald J Sokol

14

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29 July 2017

Giorgina Mieli-Vergani

15

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29 July 2017

Joshua D Smith

17

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29 July 2017

Colin A Johnson

18

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29 July 2017

A S Knisely

21

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29 July 2017

Laura N Bull

22

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29 July 2017

language of work or name

English

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publication date

9 March 2014

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29 July 2017

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29 July 2017

volume

46

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29 July 2017

issue

4

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29 July 2017

page(s)

326-328

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Distinct claudin expression profiles of hepatocellular carcinoma and metastatic colorectal and pancreatic carcinomas

29 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=4061468

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Zonula occludens-1 and -2 regulate apical cell structure and the zonula adherens cytoskeleton in polarized epithelia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

A framework for variation discovery and genotyping using next-generation DNA sequencing data

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Origins and functional impact of copy number variation in the human genome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

The Sequence Alignment/Map format and SAMtools

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Early embryonic lethality of mice lacking ZO-2, but Not ZO-3, reveals critical and nonredundant roles for individual zonula occludens proteins in mammalian development

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Organization and expression of the human zo-2 gene (tjp-2) in normal and neoplastic tissues

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Molecular physiology and pathophysiology of tight junctions I. Tight junction structure and function: lessons from mutant animals and proteins

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4061468

4 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG.2918

ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2918

21 January 2018

Identifiers

DOI

10.1038/NG.2918

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29 July 2017

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29 July 2017

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