(Q39784685)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19847789%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon (English)

1 reference

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10 February 2020

8

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10 February 2020

Vera M. Kalscheuer

11

1 reference

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10 February 2020

Suzanna G.m. Frints

6

1 reference

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10 February 2020

Corrado Romano

9

1 reference

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10 February 2020

10

Hans-Hilger Ropers

1 reference

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10 February 2020

author name string

Luciana Musante

1

1 reference

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10 February 2020

Stella-Amrei Kunde

2

1 reference

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10 February 2020

Tina O Sulistio

3

1 reference

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10 February 2020

Ute Fischer

4

1 reference

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10 February 2020

Astrid Grimme

5

1 reference

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10 February 2020

Charles E Schwartz

7

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10 February 2020

publication date

1 January 2010

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10 February 2020

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10 February 2020

volume

31

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10 February 2020

issue

1

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10 February 2020

page(s)

90-98

1 reference

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Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

10 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Splicing in action: assessing disease causing sequence changes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

SCNM1, a putative RNA splicing factor that modifies disease severity in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Mutant huntingtin promotes the fibrillogenesis of wild-type huntingtin: a potential mechanism for loss of huntingtin function in Huntington's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Alternatively spliced T-cell receptor transcripts are up-regulated in response to disruption of either splicing elements or reading frame.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Pre-mRNA splicing and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Sorting out the complexity of SR protein functions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Genomic organization and alternative transcripts of the human PQBP-1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Association of two nuclear proteins, Npw38 and NpwBP, via the interaction between the WW domain and a novel proline-rich motif containing glycine and arginine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

SIPP1, a novel pre-mRNA splicing factor and interactor of protein phosphatase-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Are splicing mutations the most frequent cause of hereditary disease?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Alternative pre-mRNA splicing: the logic of combinatorial control

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

The association of nonsense codons with exon skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21146

7 January 2021

Identifiers

DOI

10.1002/HUMU.21146

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19847789%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

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