Inborn errors of biliary canalicular transport systems (Q36363124)

13 August 2017

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title

Inborn errors of biliary canalicular transport systems (English)

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13 August 2017

3

Dieter Häussinger

1 reference

13 August 2017

Ralf Kubitz

1

1 reference

PubMed ID

16399370

13 August 2017

Verena Keitel

series ordinal

2

1 reference

PubMed ID

16399370

13 August 2017

language of work or name

English

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publication date

1 January 2005

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13 August 2017

Methods in Enzymology

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13 August 2017

400

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13 August 2017

558-569

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Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1

13 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

1 reference

7 January 2021

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Death receptors in liver biology and pathobiology

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Taurolithocholic acid-3 sulfate induces CD95 trafficking and apoptosis in a c-Jun N-terminal kinase-dependent manner

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

ABCG5 and ABCG8 Are Obligate Heterodimers for Protein Trafficking and Biliary Cholesterol Excretion

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

The superfamily of organic anion transporting polypeptides

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Bile acid regulation of hepatic physiology: IV. Bile acids and death receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Ethnicity-dependent polymorphism in Na+-taurocholate cotransporting polypeptide (SLC10A1) reveals a domain critical for bile acid substrate recognition

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2).

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

A missense mutation in FIC1 is associated with greenland familial cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Characterization of the human multidrug resistance protein isoform MRP3 localized to the basolateral hepatocyte membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Intrahepatic cholestasis of pregnancy: molecular pathogenesis, diagnosis and management

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Genetic polymorphisms in the multidrug resistance-associated protein 3 (ABCC3, MRP3) gene and relationship to its mRNA and protein expression in human liver

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Identification and functional characterization of the natural variant MRP3-Arg1297His of human multidrug resistance protein 3 (MRP3/ABCC3).

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Mutations in the SLCO1B3 gene affecting the substrate specificity of the hepatocellular uptake transporter OATP1B3 (OATP8).

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Identification of a nuclear receptor for bile acids

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

A naturally occurring mutation in the SLC21A6 gene causing impaired membrane localization of the hepatocyte uptake transporter

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Genetic defects in hepatobiliary transport.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Hepatic canalicular membrane 1: The role of mdr2 P-glycoprotein in hepatobiliary lipid transport

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Bile acids: natural ligands for an orphan nuclear receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

ABCB4 gene mutation-associated cholelithiasis in adults

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Novel mutations identified in the human multidrug resistance-associated protein 2 (MRP2/ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Single nucleotide polymorphisms in multidrug resistance associated protein 2 (MRP2/ABCC2): its impact on drug disposition

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Binary specification of nonsense codons by splicing and cytoplasmic translation

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

BSEP: function and role in progressive familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Polymorphisms in OATP-C: identification of multiple allelic variants associated with altered transport activity among European- and African-Americans

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

Familial intrahepatic cholestasis 1: studies of localization and function

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

FIC1 disease: a spectrum of intrahepatic cholestatic disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0076-6879%2805%2900031-5

7 January 2021

10.1016/S0076-6879(05)00031-5

Identifiers

DOI

1 reference

13 August 2017

1 reference

PubMed ID

16399370