(Q51155448)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region (English)

1 reference

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27 December 2019

8

1 reference

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27 December 2019

Dario Motti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

Marco Baralle

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Natasa Skoko

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Anna Knezevich

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Laura De Conti

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Madhuri Bhuvanagiri

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Diana Baralle

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Francisco E Baralle

9

1 reference

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27 December 2019

language of work or name

English

0 references

publication date

14 July 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

volume

580

1 reference

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27 December 2019

issue

18

1 reference

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27 December 2019

page(s)

4449-4456

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16870183%20AND%20SRC:MED&resulttype=core&format=json

Sorting out the complexity of SR protein functions

27 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Mechanisms of fidelity in pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Alternative pre-mRNA splicing: the logic of combinatorial control

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Integrating mRNA processing with transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Another step forward for SELEXive splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Alternatively spliced TCR mRNA induced by disruption of reading frame.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Complex splicing pattern generates great diversity in human NF1 transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Predictive identification of exonic splicing enhancers in human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Splicing of constitutive upstream introns is essential for the recognition of intra-exonic suboptimal splice sites in the thrombopoietin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

A polar mechanism coordinates different regions of alternative splicing within a single gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2006.07.018