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PXD079241-1

PXD079241 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleEHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome-Histone modifications mass spect
DescriptionHistone modifications quantified by mass spectrometry dataset used in: De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity. A. Hnizda, B. Martinez-Delgado et al.
HostingRepositoryMassIVE
AnnounceDate2026-06-04
AnnouncementXMLSubmission_2026-06-04_11:38:50.026.xml
DigitalObjectIdentifier
ReviewLevelNon peer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterMaria J Barrero
SpeciesList scientific name: Homo sapiens; common name: human; NCBI TaxID: 9606;
ModificationListDimethyl; Trimethyl; Methyl; Acetyl
InstrumentTSQ Quantum Ultra
Dataset History
RevisionDatetimeStatusChangeLog Entry
02026-06-03 13:17:55ID requested
⏵ 12026-06-04 11:38:50announced
Publication List
no publication
Keyword List
submitter keyword: kLEEFSTRA SYNDROME, Histone modifications, EHMT2, DatasetType:Proteomics
Contact List
Maria J. Barrero
contact affiliationInstituto de Salud Carlos III
contact emailmj.barrero@isciii.es
lab head
Maria J Barrero
contact affiliationISCIII
contact emailmj.barrero@isciii.es
dataset submitter
Full Dataset Link List
MassIVE dataset URI
Dataset FTP location
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