(Q73552939)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome (English)

1 reference

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4 November 2019

1 reference

1 reference

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9 November 2024

author name string

W. Liu

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9241263

9 November 2024

C. Qian

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9241263

9 November 2024

U. Francke

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9241263

9 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9241263

9 November 2024

publication date

1 August 1997

1 reference

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4 November 2019

August 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9241263

full work available at URL

9 November 2024

http://www.nature.com/articles/ng0897-328

1 reference

https://api.crossref.org/works/10.1038/NG0897-328

http://www.nature.com/articles/ng0897-328.pdf

9 November 2024

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/NG0897-328

9 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

328-329

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json

Initial splice-site recognition and pairing during pre-mRNA splicing

4 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Selection of novel exon recognition elements from a pool of random sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Excision of an intact intron as a novel lariat structure during pre-mRNA splicing in vitro

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Maintenance of an open reading frame as an additional level of scrutiny during splice site selection

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

Translation is enhanced after silent nucleotide substitutions in A+T- rich sequences of the coding region of CD46 cDNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-328

7 January 2021

https://api.crossref.org/works/10.1038/NG0897-328

10

17

657

B Chen

1994

1 reference

9 November 2024

Identifiers

DOI

10.1038/NG0897-328

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9241263%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference