Progressive Familial Intrahepatic Cholestasis

Laura N Bull; Richard J Thompson

doi:10.1016/j.cld.2018.06.003

Progressive Familial Intrahepatic Cholestasis

Laura N Bull, Richard J Thompson

Department of Medicine and Institute for Human Genetics, University of California San Francisco, UCSF Liver Center Laboratory, Zuckerberg San Francisco General, 1001 Potrero Avenue, Building 40, Room 4102, San Francisco, CA 94110, USA. Electronic address: [email protected].
King's College London

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125 Citations (Scopus)

Abstract

Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences in treatment response and targets for future treatment are emerging.

Original language	English
Pages (from-to)	657-669
Number of pages	13
Journal	Clinics in Liver Disease
Volume	22
Issue number	4
Early online date	3 Aug 2018
DOIs	https://doi.org/10.1016/j.cld.2018.06.003
Publication status	Published - Nov 2018

Keywords

Cholestasis
Genetics
Bile acids
Pediatrics
PFIC

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10.1016/j.cld.2018.06.003

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title = "Progressive Familial Intrahepatic Cholestasis",

abstract = "Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences in treatment response and targets for future treatment are emerging.",

keywords = "Cholestasis, Genetics, Bile acids, Pediatrics, PFIC",

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AU - Bull, Laura N

AU - Thompson, Richard J

PY - 2018/11

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AB - Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences in treatment response and targets for future treatment are emerging.

KW - Cholestasis

KW - Genetics

KW - Bile acids

KW - Pediatrics

KW - PFIC

U2 - 10.1016/j.cld.2018.06.003

DO - 10.1016/j.cld.2018.06.003

M3 - Article

C2 - 30266155

SN - 1089-3261

VL - 22

SP - 657

EP - 669

JO - Clinics in Liver Disease

JF - Clinics in Liver Disease

IS - 4

ER -

Progressive Familial Intrahepatic Cholestasis

Abstract

Keywords

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