(Q28270588)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15239083%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Characterization of mutations in ATP8B1 associated with hereditary cholestasis (English)

1 reference

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30 December 2019

3

1 reference

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30 December 2019

Irena Jankowska

15

1 reference

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30 December 2019

Joanna Pawlowska

16

1 reference

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30 December 2019

Erica Villa

17

1 reference

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30 December 2019

Richard J. Thompson

19

1 reference

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30 December 2019

5

Sandra S Strautnieks

1 reference

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30 December 2019

author name string

Leo W J Klomp

1

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30 December 2019

Julie C Vargas

2

1 reference

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30 December 2019

Michiel J T van Eijk

6

1 reference

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30 December 2019

Jenneke A Juijn

7

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30 December 2019

Carlos Pabón-Peña

8

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30 December 2019

Lauren B Smith

9

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30 December 2019

Joseph A DeYoung

10

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30 December 2019

Jane A Byrne

11

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30 December 2019

Justijn Gombert

12

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30 December 2019

Gerda van der Brugge

13

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30 December 2019

Ruud Berger

14

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30 December 2019

A S Knisely

18

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30 December 2019

Nelson B Freimer

20

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30 December 2019

Roderick H J Houwen

21

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30 December 2019

Laura N Bull

22

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30 December 2019

Ludmila Pawlikowska

4

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30 December 2019

language of work or name

English

0 references

publication date

1 July 2004

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30 December 2019

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30 December 2019

volume

40

1 reference

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30 December 2019

page(s)

27-38

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30 December 2019

issue

1

1 reference

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30 December 2019

1 reference

Byler's disease: fatal intrahepatic cholestasis

21 January 2018

1 reference

7 January 2021

Byler-like familial cholestasis in an extended kindred

1 reference

7 January 2021

THE SYNDROME OF BENIGN RECURRENT CHOLESTASIS

1 reference

7 January 2021

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

1 reference

7 January 2021

Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24

1 reference

7 January 2021

PERSPECTIVES IN PEDIATRIC PATHOLOGY: Progressive Familial Intrahepatic Cholestasis: A Personal Perspective

1 reference

7 January 2021

FIC1 disease: a spectrum of intrahepatic cholestatic disorders

1 reference

7 January 2021

Genetic defects in hepatobiliary transport.

1 reference

7 January 2021

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

1 reference

7 January 2021

Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region

1 reference

7 January 2021

Locus heterogeneity in progressive familial intrahepatic cholestasis

1 reference

7 January 2021

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

1 reference

7 January 2021

Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24

1 reference

7 January 2021

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.

1 reference

7 January 2021

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

1 reference

7 January 2021

A missense mutation in FIC1 is associated with greenland familial cholestasis

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

7 January 2021

Evolution of P-type ATPases

1 reference

7 January 2021

Familial intrahepatic cholestasis 1: studies of localization and function

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver

1 reference

7 January 2021

The human bile salt export pump: characterization of substrate specificity and identification of inhibitors

1 reference

7 January 2021

Functional expression of the canalicular bile salt export pump of human liver

1 reference

7 January 2021

Natural variation in human membrane transporter genes reveals evolutionary and functional constraints

1 reference

7 January 2021

Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene

1 reference

7 January 2021

Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity

1 reference

7 January 2021

Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum

1 reference

7 January 2021

Organization of P-type ATPases: significance of structural diversity

1 reference

7 January 2021

The complete inventory of the yeast Saccharomyces cerevisiae P-type transport ATPases

1 reference

7 January 2021

Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs

1 reference

7 January 2021

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

1 reference

7 January 2021

Molecular structure of the Menkes disease gene (ATP7A)

1 reference

7 January 2021

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

1 reference

7 January 2021

FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte

1 reference

7 January 2021

A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion

1 reference

7 January 2021

Multiple sequence alignment with hierarchical clustering

1 reference

7 January 2021

Amino acid substitution matrices from protein blocks

1 reference

7 January 2021

Identifiers

DOI

10.1002/HEP.20285

2 references

Consolidated OpenCitations Corpus – April 2017

2090019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15239083%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

2090019

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

2090019