Exon identity crisis: disease-causing mutations that disrupt the splicing code

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1474-760X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Exon identity crisis: disease-causing mutations that disrupt the splicing code ; volume:15 ; number:1 ; day:23 ; month:1 ; year:2014 ; pages:1-8 ; date:1.2014
Genome biology ; 15, Heft 1 (23.1.2014), 1-8, 1.2014

Creator: Sterne-Weiler, Timothy

Contributor: Sanford, Jeremy R.
SpringerLink (Online service)

DOI: 10.1186/gb4150

URN: urn:nbn:de:1111-2016050211717

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:44 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Sterne-Weiler, Timothy
Sanford, Jeremy R.
SpringerLink (Online service)

Other Objects (12)

Functional analysis of splicing mutations in exon 7 of NF1gene

Tau exon 10 alternative splicing and tauopathies

Mutations in dock1 disrupt early Schwann cell development

Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays

Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion

Aufsatzsammlung

EGFR exon 20 insertion mutations in NSCLC

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Hochschulschrift

Deciphering Splicing Regulation for TRAF3 Exon 8 Alternative Splicing – CELF2 and hnRNP C Regulate TRAF3 Exon 8 Skipping Upon T Cell Activation

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

Transcriptome-wide modulation of splicing by the exon junction complex

Functional analysis of splicing mutations in exon 7 of NF1gene

Tau exon 10 alternative splicing and tauopathies

Mutations in dock1 disrupt early Schwann cell development

Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays

Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion

Aufsatzsammlung

EGFR exon 20 insertion mutations in NSCLC

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Hochschulschrift

Deciphering Splicing Regulation for TRAF3 Exon 8 Alternative Splicing – CELF2 and hnRNP C Regulate TRAF3 Exon 8 Skipping Upon T Cell Activation

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

Transcriptome-wide modulation of splicing by the exon junction complex

Functional analysis of splicing mutations in exon 7 of NF1gene

Tau exon 10 alternative splicing and tauopathies

Mutations in dock1 disrupt early Schwann cell development

Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays

Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion

Aufsatzsammlung

EGFR exon 20 insertion mutations in NSCLC

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Hochschulschrift

Deciphering Splicing Regulation for TRAF3 Exon 8 Alternative Splicing – CELF2 and hnRNP C Regulate TRAF3 Exon 8 Skipping Upon T Cell Activation

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

Transcriptome-wide modulation of splicing by the exon junction complex

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Exon identity crisis: disease-causing mutations that disrupt the splicing code

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Functional analysis of splicing mutations in exon 7 of NF1gene

Tau exon 10 alternative splicing and tauopathies

Mutations in dock1 disrupt early Schwann cell development

Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays

Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion

EGFR exon 20 insertion mutations in NSCLC

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Deciphering Splicing Regulation for TRAF3 Exon 8 Alternative Splicing – CELF2 and hnRNP C Regulate TRAF3 Exon 8 Skipping Upon T Cell Activation

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

Transcriptome-wide modulation of splicing by the exon junction complex

Functional analysis of splicing mutations in exon 7 of NF1gene

Tau exon 10 alternative splicing and tauopathies

Mutations in dock1 disrupt early Schwann cell development

Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays

Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion

EGFR exon 20 insertion mutations in NSCLC

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Deciphering Splicing Regulation for TRAF3 Exon 8 Alternative Splicing – CELF2 and hnRNP C Regulate TRAF3 Exon 8 Skipping Upon T Cell Activation

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

Transcriptome-wide modulation of splicing by the exon junction complex

Functional analysis of splicing mutations in exon 7 of NF1gene

Tau exon 10 alternative splicing and tauopathies

Mutations in dock1 disrupt early Schwann cell development

Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays

Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion

EGFR exon 20 insertion mutations in NSCLC

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Deciphering Splicing Regulation for TRAF3 Exon 8 Alternative Splicing – CELF2 and hnRNP C Regulate TRAF3 Exon 8 Skipping Upon T Cell Activation

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

Transcriptome-wide modulation of splicing by the exon junction complex

Related objects

Reset password