Differences in presentation and progression between severe FIC1 and BSEP deficiencies (Q34592094)

3 August 2017

title

Differences in presentation and progression between severe FIC1 and BSEP deficiencies (English)

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3 August 2017

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Ludmila Pawlikowska

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9

Emmanuel Jacquemin

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Piotr Czubkowski

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3

Irena Jankowska

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2

Sandra Strautnieks

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32

Peter F Whitington

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Karan Emerick

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Anthony Antoniou

6

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Catherine Wanty

7

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Bjorn Fischler

8

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Sami Wali

10

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Samra Blanchard

11

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Inge-Merete Nielsen

12

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Billy Bourke

13

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Shirley McQuaid

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Florence Lacaille

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Jane A Byrne

16

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Albertien M van Eerde

17

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Kaija-Leena Kolho

18

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Leo Klomp

19

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Roderick Houwen

20

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Peter Bacchetti

21

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Steven Lobritto

22

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Vera Hupertz

23

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Patricia McClean

24

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Giorgina Mieli-Vergani

25

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Benjamin Shneider

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Antal Nemeth

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Etienne Sokal

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Nelson B Freimer

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A S Knisely

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Philip Rosenthal

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Joanna Pawlowska

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Richard J Thompson

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Laura N Bull

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publication date

13 April 2010

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3 August 2017

published in

Journal of Hepatology

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3 August 2017

volume

53

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3 August 2017

issue

1

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3 August 2017

page(s)

170-178

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Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Two N-linked glycans are required to maintain the transport activity of the bile salt export pump (ABCB11) in MDCK II cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Fifteen years single center experience in the management of progressive familial intrahepatic cholestasis of infancy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Peer review of statistics in medical research: the other problem

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Familial intrahepatic cholestasis 1: studies of localization and function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Clinical aspects on neonatal cholestasis based on observations at a Swedish tertiary referral centre

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

A missense mutation in FIC1 is associated with greenland familial cholestasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Molecular cloning and characterization of the murine bile salt export pump

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

What's wrong with Bonferroni adjustments

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Byler-like familial cholestasis in an extended kindred

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Selective surgical management of progressive familial intrahepatic cholestasis (Byler's 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=3042805

Histologic pathology of the liver in progressive familial intrahepatic cholestasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Clinical and biochemical findings in progressive familial intrahepatic cholestasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Multiple comparisons and related issues in the interpretation of epidemiologic data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

No adjustments are needed for multiple comparisons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Characterization of bile acid transport mediated by multidrug resistance associated protein 2 and bile salt export pump

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Sensorineural hearing loss associated with Byler disease

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low γ-glutamyltranspeptidase levels

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042805

Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin

9 December 2018

1 reference

12 December 2020

Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation

1 reference

12 December 2020

Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass

1 reference

12 December 2020

[Two sisters with progressive familial intrahepatic cholestasis]

1 reference

12 December 2020

Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease)

1 reference

12 December 2020

Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion

1 reference

12 December 2020

Linkage of Cholestasis Familiaris Groenlandica/Byler-like disease to chromosome 18

1 reference

12 December 2020

Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2

1 reference

12 December 2020

Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1

1 reference

12 December 2020

Preoperative observations and short-term outcome after partial external biliary diversion in 13 patients with progressive familial intrahepatic cholestasis

1 reference

12 December 2020

10.1016/J.JHEP.2010.01.034

Identifiers

DOI

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3 August 2017

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3 August 2017

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