<<< Full experiment listing

PXD043691-1

PXD043691 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleClinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system
DescriptionClassical-like Ehlers–Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in TNXB. Accurate detection of TNXB variants is challenging because of the presence of the pseudogene TNXA, which can undergo non-allelic homologous recombination. Therefore, we designed a genetic screening system that is performed using similar operations to other next-generation sequencing (NGS) panel analyses and can be applied to accurately detect TNXB variants and the recombination of TNXA-derived sequences into TNXB. We also analyzed the levels of serum form of TNX (sTNX) by Western bot and LC/MS/MS. Using this system, we identified biallelic TNXB variants in nine unrelated clEDS patients. This report is the first to apply an NGS-based screening for TNXB variants and represents the third largest cohort of clEDS.
HostingRepositoryPRIDE
AnnounceDate2023-08-09
AnnouncementXMLSubmission_2023-08-08_18:00:50.761.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterKazuoYamada
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListNo PTMs are included in the dataset
InstrumentTSQ Quantum Access
Dataset History
RevisionDatetimeStatusChangeLog Entry
02023-07-11 19:16:41ID requested
12023-08-08 18:00:51announced
Publication List
Dataset with its publication pending
Keyword List
submitter keyword: NGS, LC/MS/MS, Tenascin-X,Classical-like Ehlers–Danlos syndrome
Contact List
TomomiYamaguchi
contact affiliationShinshu University
contact emailt_yamaguchi@shinshu-u.ac.jp
lab head
KazuoYamada
contact affiliationDepartment of Legal Medicine, Shimane University
contact emailyamadak@med.shimane-u.ac.jp
dataset submitter
Full Dataset Link List
Dataset FTP location
NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2023/08/PXD043691
PRIDE project URI
Repository Record List
[ + ]