PXD038352

PXD038352 is an original dataset announced via ProteomeXchange.

Dataset Summary

Title	Demonstration of a complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis
Description	Genetic diagnosis plays a central role in the clinical management of patients with inborn errors of immunity (IEI). We proposed a novel method for diagnosing IEI using PBMC proteomics integrated with targeted RNA sequencing, providing notable insights into the pathogenesis of IEI. Data-independent acquisition mass spectrometry was performed on PBMC from 70 IEI patients without genetic diagnosis and six healthy controls.
HostingRepository	jPOST
AnnounceDate	2023-11-25
AnnouncementXML	Submission_2023-11-26_07:00:07.089.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Ryo Konno
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	S-carboxamidomethyl-L-cysteine; unknown modification
Instrument	Q Exactive

Dataset History

Revision	Datetime	Status	ChangeLog Entry
0	2022-11-24 21:30:34	ID requested
⏵ 1	2023-11-26 07:00:07	announced

Publication List

Sakura F, Noma K, Asano T, Tanita K, Toyofuku E, Kato K, Tsumura M, Nihira H, Izawa K, Mitsui-Sekinaka K, Konno R, Kawashima Y, Mizoguchi Y, Karakawa S, Hayakawa S, Kawaguchi H, Imai K, Nonoyama S, Yasumi T, Ohnishi H, Kanegane H, Ohara O, Okada S, A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis. PNAS Nexus, 2(4):pgad104(2023) [pubmed]

Sakura F, Noma K, Asano T, Tanita K, Toyofuku E, Kato K, Tsumura M, Nihira H, Izawa K, Mitsui-Sekinaka K, Konno R, Kawashima Y, Mizoguchi Y, Karakawa S, Hayakawa S, Kawaguchi H, Imai K, Nonoyama S, Yasumi T, Ohnishi H, Kanegane H, Ohara O, Okada S, A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis. PNAS Nexus, 2(4):pgad104(2023) [pubmed]

Keyword List

submitter keyword: LC-MS, Data-independent acquisition, proteogenomi

submitter keyword: LC-MS, Data-independent acquisition, proteogenomi

Contact List

Fumiaki Sakura
lab head
Ryo Konno
contact affiliation	Kazusa DNA Research Institute.
dataset submitter

Full Dataset Link List

jPOST dataset URI
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jPOST dataset URI

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.jpostdb.org/JPST001938/