(Q51033041)

English

Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.

scientific article published on 23 February 2015

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scholarly article

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA. (English)

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

1 reference

based on heuristic

inferred from title

3

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

Stan F van de Graaf

6

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

author name string

Wendy L van der Woerd

1

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

Johanna Mulder

2

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

Ulrich Beuers

4

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

Roderick H J Houwen

5

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27 March 2018

http://europepmc.org/abstract/MED/25421123

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publication date

23 February 2015

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Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

61

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Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

4

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

1382-1391

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

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

1 reference

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Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice.

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Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.

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21 January 2018

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

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21 January 2018

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

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

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

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https://api.crossref.org/works/10.1002%2FHEP.27620

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U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

1 reference

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The spliceosome: design principles of a dynamic RNP machine

1 reference

https://api.crossref.org/works/10.1002%2FHEP.27620

21 January 2018

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells

1 reference

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An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

1 reference

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Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display.

1 reference

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A new type of mutation causes a splicing defect in ATM.

1 reference

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NMD: a multifaceted response to premature translational termination

1 reference

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21 January 2018

Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.

1 reference

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21 January 2018

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

1 reference

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U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

1 reference

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Analysis of gene mutations in children with cholestasis of undefined etiology

1 reference

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Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.

1 reference

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21 January 2018

An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

1 reference

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

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Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.27620

7 January 2021

based on heuristic

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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

1 reference

https://api.crossref.org/works/10.1002%2FHEP.27620

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.27620

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT

1 reference

https://api.crossref.org/works/10.1002%2FHEP.27620

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HEP.27620

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

1 reference

Europe PubMed Central

27 March 2018

http://europepmc.org/abstract/MED/25421123

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