Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1 (Q24301581)

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31 December 2019

title

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

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4

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author name string

Luis Alvarez

1

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31 December 2019

Paloma Jara

2

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31 December 2019

Elena Sánchez-Sabaté

3

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31 December 2019

Javier Larrauri

5

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31 December 2019

María C Díaz

6

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31 December 2019

Carmen Camarena

7

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31 December 2019

Angela De la Vega

8

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31 December 2019

Esteban Frauca

9

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31 December 2019

Eduardo López-Collazo

10

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31 December 2019

Pablo Lapunzina

11

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language of work or name

English

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publication date

18 August 2004

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31 December 2019

published in

Human Molecular Genetics

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volume

13

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issue

20

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31 December 2019

page(s)

2451-2460

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Characterization of mutations in ATP8B1 associated with hereditary cholestasis

31 December 2019

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7 January 2021

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Farnesoid X receptor agonists suppress hepatic apolipoprotein CIII expression

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

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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

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FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body

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6alpha-ethyl-chenodeoxycholic acid (6-ECDCA), a potent and selective FXR agonist endowed with anticholestatic activity.

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

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

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

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7 January 2021

Familial intrahepatic cholestasis 1: studies of localization and function

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Farnesoid X receptor and bile salts are involved in transcriptional regulation of the gene encoding the human bile salt export pump

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7 January 2021

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

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

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Expression and activation of the farnesoid X receptor in the vasculature

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Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

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Identification of a bile acid-responsive element in the human ileal bile acid-binding protein gene. Involvement of the farnesoid X receptor/9-cis-retinoic acid receptor heterodimer

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Regulation of multidrug resistance-associated protein 2 (ABCC2) by the nuclear receptors pregnane X receptor, farnesoid X-activated receptor, and constitutive androstane receptor

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1093/HMG/DDH261

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15317749%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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