Progressive familial intrahepatic cholestasis. (Q33595403)

28 July 2017

1 reference

title

Progressive familial intrahepatic cholestasis. (English)

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progressive familial intrahepatic cholestasis

28 July 2017

main subject

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author name string

Anshu Srivastava

series ordinal

1

1 reference

28 July 2017

publication date

23 November 2013

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Journal of clinical and experimental hepatology

28 July 2017

published in

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28 July 2017

volume

4

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28 July 2017

issue

1

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28 July 2017

page(s)

25-36

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The bile salt export pump (BSEP) in health and disease

28 July 2017

cites work

1 reference

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21 June 2018

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Therapeutic interventions in progressive familial intrahepatic cholestasis: experience from a tertiary care centre in north India

21 June 2018

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Partial internal biliary diversion: a solution for intractable pruritus in progressive familial intrahepatic cholestasis type 1.

21 June 2018

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Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies

21 June 2018

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Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings

21 June 2018

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A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells

21 June 2018

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Differences in presentation and progression between severe FIC1 and BSEP deficiencies

21 June 2018

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The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease

21 June 2018

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21 June 2018

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Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

21 June 2018

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21 June 2018

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ATPase Class I Type 8B Member 1 and protein kinase C zeta induce the expression of the canalicular bile salt export pump in human hepatocytes

21 June 2018

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Nontransplant surgical interventions in progressive familial intrahepatic cholestasis

21 June 2018

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Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064.

21 June 2018

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A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.

21 June 2018

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Progressive familial intrahepatic cholestasis

21 June 2018

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Albumin liver dialysis as pregnancy-saving procedure in cholestatic liver disease and intractable pruritus

21 June 2018

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ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained

21 June 2018

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The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor

21 June 2018

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Liver transplantation in children with progressive familial intrahepatic cholestasis

21 June 2018

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Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis

21 June 2018

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

21 June 2018

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Diseases of intramembranous lipid transport

21 June 2018

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Hepatocyte transplantation for liver-based metabolic disorders

21 June 2018

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Proteins involved in lipid translocation in eukaryotic cells.

21 June 2018

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Hepatocanalicular transport defects: pathophysiologic mechanisms of rare diseases

21 June 2018

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Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis

21 June 2018

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ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.

21 June 2018

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

21 June 2018

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

21 June 2018

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21 June 2018

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

21 June 2018

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

21 June 2018

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Ursodeoxycholic acid in cholestatic liver disease: mechanisms of action and therapeutic use revisited

21 June 2018

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

21 June 2018

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FIC1 disease: a spectrum of intrahepatic cholestatic disorders

21 June 2018

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Ursodeoxycholic acid 'mechanisms of action and clinical use in hepatobiliary disorders'.

21 June 2018

1 reference

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

21 June 2018

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

21 June 2018

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

21 June 2018

1 reference

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Genetic cholestasis: lessons from the molecular physiology of bile formation

21 June 2018

1 reference

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Ursodeoxycholic acid treatment in children with Byler disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

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

21 June 2018

1 reference

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

21 June 2018

1 reference

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Ileal exclusion for Byler's disease: an alternative surgical approach with promising early results for pruritus

21 June 2018

1 reference

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Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

21 June 2018

1 reference

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

21 June 2018

1 reference

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Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.

21 June 2018

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

21 June 2018

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Byler-like familial cholestasis in an extended kindred

21 June 2018

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MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine

21 June 2018

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Genetic analysis of the multidrug transporter

21 June 2018

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Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children.

21 June 2018

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Clinical and biochemical findings in progressive familial intrahepatic cholestasis

21 June 2018

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Tissue distribution of the human MDR3 P-glycoprotein

21 June 2018

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Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred

21 June 2018

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

21 June 2018

1 reference

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Laparoscopic cholecystocolostomy: a novel surgical approach for the treatment of progressive familial intrahepatic cholestasis

21 June 2018

1 reference

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Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity.

30 October 2018

1 reference

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Genetic variants of the bile salt export pump: inducers and modifiers of liver diseases.

30 October 2018

1 reference

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Button cholecystostomy for management of progressive familial intrahepatic cholestasis syndromes.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

Cholecystoappendicostomy for progressive familial intrahepatic cholestasis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

FIC1-mediated stimulation of FXR activity is decreased with PFIC1 mutations in HepG2 cells

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.

30 October 2018

1 reference

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Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice

30 October 2018

1 reference

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

30 October 2018

1 reference

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.

30 October 2018

1 reference

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4017198

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

30 October 2018

1 reference

12 December 2020

The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice

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

Biliary diversion by use of the appendix (cholecystoappendicostomy) in progressive familial intrahepatic cholestasis

1 reference

12 December 2020

Partial internal biliary diversion for patients with progressive familial intrahepatic cholestasis type 1

1 reference

12 December 2020

Benign recurrent intrahepatic cholestasis

1 reference

12 December 2020

Progressive familial intrahepatic cholestasis among the Arab population in Israel

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12 December 2020

[Progressive familial intrahepatic cholestasis presenting as liver failure]

1 reference

12 December 2020

Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma

1 reference

12 December 2020

Recovery of graft steatosis and protein-losing enteropathy after biliary diversion in a PFIC 1 liver transplanted child

1 reference

12 December 2020

Prenatal molecular diagnosis of inherited cholestatic diseases

1 reference

12 December 2020

Progressive familial intrahepatic cholestasis: A case with improvement in liver tests and growth following partial external biliary diversion

1 reference

12 December 2020

Normalization of serum bile acids after partial external biliary diversion indicates an excellent long-term outcome in children with progressive familial intrahepatic cholestasis

1 reference

12 December 2020

Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport

1 reference

12 December 2020

Cholestasis of pregnancy

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12 December 2020

Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills

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12 December 2020

Intrahepatic cholestasis of pregnancy: from bedside to bench to bedside

1 reference

12 December 2020

Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis

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12 December 2020

Progressive familial intrahepatic cholestasis

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12 December 2020

Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations

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12 December 2020

Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy

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12 December 2020

Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth

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12 December 2020

Intrahepatic cholestasis of pregnancy

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12 December 2020

Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2

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12 December 2020

Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury

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12 December 2020

Progressive familial intrahepatic cholestasis

1 reference

12 December 2020

Progressive familial intrahepatic cholestasis: a single-center experience of living-donor liver transplantation during two decades in Japan

1 reference

12 December 2020

Hepatobiliary scintigraphy during cholestatic and noncholestatic periods in patients with progressive familial intrahepatic cholestasis after partial external biliary diversion

1 reference

12 December 2020

Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.JCEH.2013.10.005

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference