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PXD029387

PXD029387 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleTruncated titin detection in TTNtv positive DCM human myocardium via patient and allele specific proteomics.
Description Premature termination codons in the gene coding for titin are known to cause dilated cardiomyopathy in humans, but it has been unclear whether or not the expected truncated protein is expressed in the human heart, potentially causing DCM. We have shown using per patient allele specific proteomics that truncated titin is expressed in human myocardium in patients with truncations in those exons retained in the spliced titin transcript. Proteomics were run at Taplin Mass Spectrometry Facility, Harvard University. Filename denotes patient number-gel slice-enzyme-fileID See: Q. McAfee et al., Sci. Transl. Med.10.1126/scitranslmed.abd7287 for a complete description of the experiment.
HostingRepositoryMassIVE
AnnounceDate2021-10-28
AnnouncementXMLSubmission_2021-10-28_07:00:26.458.xml
DigitalObjectIdentifier
ReviewLevelNon peer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportSupported dataset by repository
PrimarySubmitterQuentin McAfee
SpeciesList scientific name: Homo sapiens; common name: human; NCBI TaxID: 9606;
ModificationListNo PTMs are included in the dataset
Instrumentinstrument model
Dataset History
RevisionDatetimeStatusChangeLog Entry
02021-10-27 22:03:22ID requested
12021-10-28 07:00:30announced
Publication List
no publication
Keyword List
submitter keyword: Titin, Truncation , Premature stop , dilated cardiomyopathy (DCM), allele specific , Heart , myocardium, cardiac, sarcomere, dominant negative
Contact List
Zolt Arany
contact affiliationUniversity of Pennsylvania
contact emailZarany@pennmedicine.upenn.edu
lab head
Benjamin Prosser
contact affiliationUniversity of Pennsylvania
contact emailbpros@pennmedicine.upenn.edu
lab head
Quentin McAfee
contact affiliationUniversity of Pennsylvania
contact emailqmcafee@pennmedicine.upenn.edu
dataset submitter
Full Dataset Link List
MassIVE dataset URI
Dataset FTP location
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