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PXD048586

PXD048586 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleProteomics analysis of ovaries from wild-type and Rnf111 mutant mice
DescriptionPremature ovarian insufficiency (POI) is a heterogeneous female disorder characterized by the loss of ovarian function before the age of 40. It represents a significant detriment to female fertility. However, the known POI-causative genes currently account for only a fraction of cases. To elucidate the genetic factors underlying POI, we conducted whole-exome sequencing on a family with three POI patients and identified a deleterious missense variant in RNF111. In a subsequent replication study involving 1030 POI patients, this variant was not only confirmed but also accompanied by the discovery of three additional predicted deleterious RNF111 variants. These variants collectively account for eight cases, representing 0.78% of the study cohort. A further study involving 500 patients with diminished ovarian reserves also identified two additional RNF111 variants. Notably, RNF111 encodes an E3-ubiquitin ligase with a regulatory role in the TGF-β/BMP signaling pathway. Our analysis revealed that RNF111/RNF111 is
HostingRepositoryiProX
AnnounceDate2024-01-12
AnnouncementXMLSubmission_2024-06-10_22:29:38.605.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterChengcheng Sonng
SpeciesList scientific name: Mus musculus; NCBI TaxID: 10090;
ModificationListNo PTMs are included in the dataset
InstrumenttimsTOF Pro
Dataset History
RevisionDatetimeStatusChangeLog Entry
02024-01-15 21:06:16ID requested
12024-06-10 22:29:38announced
Publication List
Dataset with its publication pending
Keyword List
submitter keyword: female subfertility
Contact List
Feng Zhang
contact affiliationFudan University
contact emailzhangfeng@fudan.edu.cn
lab head
Chengcheng Sonng
contact affiliationFudan University
contact emailsong-chengcheng@outlook.com
dataset submitter
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iProX dataset URI