Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing (Q28304808)

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English	Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing	scientific article

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scholarly article

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Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing (English)

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single-nucleotide polymorphism

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based on heuristic

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author name string

Jane A Byrne

1

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Sandra S Strautnieks

2

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Gudrun Ihrke

3

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Franco Pagani

4

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A S Knisely

5

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Kenneth J Linton

6

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Giorgina Mieli-Vergani

7

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Richard J Thompson

8

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language of work or name

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publication date

February 2009

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49

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2

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553-67

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Bile salt transporters

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

ABC Transporters: From Microorganisms to Man

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https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

The human bile salt export pump: characterization of substrate specificity and identification of inhibitors

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https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Functional expression of the canalicular bile salt export pump of human liver

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Characterization of the mouse bile salt export pump overexpressed in the baculovirus system

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Molecular pathogenesis of intrahepatic cholestasis of pregnancy.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

The bile salt export pump

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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21 January 2018

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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21 January 2018

Splicing in disease: disruption of the splicing code and the decoding machinery

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

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21 January 2018

Alternative splicing: multiple control mechanisms and involvement in human disease

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A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

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Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

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Traffic jam: a compendium of human diseases that affect intracellular transport processes

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Defects in processing and trafficking of the cystic fibrosis transmembrane conductance regulator

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21 January 2018

Lack of hepatocellular CD10 along bile canaliculi is physiologic in early childhood and persistent in Alagille syndrome.

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21 January 2018

The cytoplasmic tail of rhodopsin acts as a novel apical sorting signal in polarized MDCK cells

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Systematic identification and analysis of exonic splicing silencers.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Correcting temperature-sensitive protein folding defects

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Bile Salt Export Pump Gene Mutations in Two Japanese Patients With Progressive Familial Intrahepatic Cholestasis

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

RNA regulons: coordination of post-transcriptional events

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Insight in eukaryotic ABC transporter function by mutation analysis

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Correction of liver disease by hepatocyte transplantation in a mouse model of progressive familial intrahepatic cholestasis.

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

21 January 2018

Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

7 January 2021

based on heuristic

inferred from DOI database lookup

A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

7 January 2021

based on heuristic

inferred from DOI database lookup

Increased functional cell surface expression of CFTR and DeltaF508-CFTR by the anthracycline doxorubicin

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal molecular diagnosis of inherited cholestatic diseases

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

7 January 2021

based on heuristic

inferred from DOI database lookup

4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps

1 reference

https://api.crossref.org/works/10.1002%2FHEP.22683

7 January 2021

based on heuristic

inferred from DOI database lookup

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