A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis (Q22004274)

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6 December 2019

title

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

1 reference

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progressive familial intrahepatic cholestasis

6 December 2019

main subject

0 references

ATP binding cassette subfamily B member 11

1 reference

GOA release 2020-03-11

7

E Sokal

E

Sokal

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9

S Childs

S

Childs

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A Németh

A

Németh

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J Pawlowska

J

Pawlowska

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R J Thompson

R J

Thompson

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S S Strautnieks

1

S S

Strautnieks

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L N Bull

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L N

Bull

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A S Knisely

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A S

Knisely

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S A Kocoshis

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S A

Kocoshis

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N Dahl

5

N

Dahl

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H Arnell

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H

Arnell

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6 December 2019

K Dahan

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K

Dahan

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6 December 2019

V Ling

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V

Ling

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M S Tanner

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M S

Tanner

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A F Kagalwalla

12

A F

Kagalwalla

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A Baker

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A

Baker

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G Mieli-Vergani

16

G

Mieli-Vergani

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N B Freimer

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N B

Freimer

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R M Gardiner

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R M

Gardiner

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6 December 2019

language of work or name

English

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publication date

1 November 1998

1 reference

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6 December 2019

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6 December 2019

volume

20

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issue

3

1 reference

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6 December 2019

page(s)

233-238

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Pathophysiology of cholestasis

6 December 2019

cites work

1 reference

7 January 2021

1 reference

7 January 2021

Fatal familial cholestatic syndrome in Greenland Eskimo children

1 reference

7 January 2021

Histologic pathology of the liver in progressive familial intrahepatic cholestasis

1 reference

7 January 2021

Clinical and biochemical findings in progressive familial intrahepatic cholestasis

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

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

1 reference

7 January 2021

Locus heterogeneity in progressive familial intrahepatic cholestasis

1 reference

7 January 2021

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

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

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

1 reference

7 January 2021

1 reference

7 January 2021

Aquaporin water channels in liver: their significance in bile formation

1 reference

7 January 2021

Bile acid transport across the hepatocyte canalicular membrane

1 reference

7 January 2021

A subfamily of P-type ATPases with aminophospholipid transporting activity

1 reference

7 January 2021

Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease)

1 reference

7 January 2021

Enhanced secretion of glycocholic acid in a specially adapted cell line is associated with overexpression of apparently novel ATP-binding cassette proteins

1 reference

7 January 2021

Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database

1 reference

7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

7 January 2021

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

1 reference

7 January 2021

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 reference

7 January 2021

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

7 January 2021

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

1 reference

7 January 2021

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

1 reference

7 January 2021

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

1 reference

7 January 2021

Normal serum gamma-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis

1 reference

7 January 2021

Mammalian multidrug-resistance gene: correlation of exon organization with structural domains and duplication of an ancestral gene

1 reference

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

7 January 2021

ABC Transporters: From Microorganisms to Man

1 reference

7 January 2021

Structure of the multidrug resistance P-glycoprotein to 2.5 nm resolution determined by electron microscopy and image analysis.

1 reference

7 January 2021

Identifiers

DOI

10.1038/3034

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9806540%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 December 2019

1033948980

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017