(Q40649754)

English

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

scientific article published on 5 May 2003

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scholarly article

1 reference

Europe PubMed Central

22 September 2017

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

1 reference

Europe PubMed Central

22 September 2017

cystic fibrosis

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transmembrane protein

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neutral mutation

1 reference

based on heuristic

inferred from title

Emanuele Buratti

2

1 reference

Europe PubMed Central

22 September 2017

Cristiana Stuani

3

object named as

Cristiana Stuani

1 reference

Europe PubMed Central

22 September 2017

author name string

Franco Pagani

1

1 reference

Europe PubMed Central

22 September 2017

Francisco E Baralle

4

1 reference

Europe PubMed Central

22 September 2017

language of work or name

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publication date

5 May 2003

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Europe PubMed Central

22 September 2017

number of pages

9

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based on heuristic

inferred from page(s)

Journal of Biological Chemistry

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Europe PubMed Central

22 September 2017

278

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Europe PubMed Central

22 September 2017

26580-26588

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Europe PubMed Central

22 September 2017

29

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Europe PubMed Central

22 September 2017

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

1 reference

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Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

A premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent manner

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Stop codons affect 5' splice site selection by surveillance of splicing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Quality control of mRNA function

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

The regulation of splice-site selection, and its role in human disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

SR proteins and splicing control

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Binding of hnRNP H to an exonic splicing silencer is involved in the regulation of alternative splicing of the rat beta-tropomyosin gene

1 reference

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21 January 2018

A cellular protein, hnRNP H, binds to the negative regulator of splicing element from Rous sarcoma virus

1 reference

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A second exon splicing silencer within human immunodeficiency virus type 1 tat exon 2 represses splicing of Tat mRNA and binds protein hnRNP H.

1 reference

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21 January 2018

Determination of the RNA binding specificity of the heterogeneous nuclear ribonucleoprotein (hnRNP) H/H'/F/2H9 family

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

A novel bipartite splicing enhancer modulates the differential processing of the human fibronectin EDA exon

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Functional association between promoter structure and transcript alternative splicing.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

T cell receptor-beta mRNA splicing: regulation of unusual splicing intermediates

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

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/10.1074%2FJBC.M212813200

21 January 2018

Alternatively spliced TCR mRNA induced by disruption of reading frame.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Exon Identity Established through Differential Antagonism between Exonic Splicing Silencer-Bound hnRNP A1 and Enhancer-Bound SR Proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

The mechanism of somatic inhibition of Drosophila P-element pre-mRNA splicing: multiprotein complexes at an exon pseudo-5' splice site control U1 snRNP binding

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Mutation of an RSV intronic element abolishes both U11/U12 snRNP binding and negative regulation of splicing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Caspase-2 pre-mRNA alternative splicing: Identification of an intronic element containing a decoy 3' acceptor site

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

21 January 2018

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M212813200

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/10.1074%2FJBC.M212813200

21 January 2018

Identifiers

10.1074/JBC.M212813200

1 reference

Europe PubMed Central

22 September 2017

1 reference

Europe PubMed Central

22 September 2017

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