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ProteomicsImpact of de novo variants in the PSMC3 proteasome AAA-ATPase subunit gene on the protein pattern of patient-derived primary T-cells in comparison to their wild-type counterparts.
To better understand the cellular consequences of loss-of-function mutations in the proteasome AAA-ATPase PSMC3, we performed a mass spectrometry-based comparative analysis of the T-cell proteome of subjects with PSMC3 mutations (p.Arg304Trp and p.Glu305Asp) to that of their wild-type counterparts.
ORGANISM(S): Homo Sapiens (human) 
2024-01-26 | PXD041182 | Pride
Primary t-cells Psmc3 variants Protein homeostasis Proteasome 
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Genomics,MultiomicsFramingham Cohort
<p>Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the Framingham Heart Study (FHS) -- under the direction of the National Heart Institute (now known as the National Heart, Lung, and Blood Institut...
phs000007.v17.p6 | EGA
0
UnknownMetagenomic DNA sequencing to quantify Mycobacterium tuberculosis DNA and diagnose tuberculosis.
Not available
S-EPMC9551046 | biostudies-literature
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Genomics,MultiomicsDiscovery of Non-ETS Gene Fusions in Human Prostate Cancer using Next Generation RNA Sequencing
<p>Half of prostate cancers harbor gene fusions between TMPRSS2 and members of the ETS transcription factor family. To date little is known about the presence of non-ETS fusion events in prostate cancer. We employed next-generation transcriptome sequencing (RNA-Seq) in order to ex...
phs000310.v1.p1 | EGA
0
Genomics,MultiomicsEGAD00000000119
Genotypes from cell lines derived from breast carcinoma tissue
EGAD00000000119 | EGA
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Genomics,MultiomicsAssessment of genomic copy number alterations in breast cancer
The aim of this study was to assess genomic copy number alterations in a panel of breast cancer cell lines. These data were used to identify common aberrations associated with breast cancer, and also to identify aberrations associated with response to therapeutic compounds.
EGAS00000000059 | EGA
1K
Other,MultiomicsOregon Health and Sciences University
Oregon Health & Science University (OHSU) is the only comprehensive public academic health center in the state of Oregon. Its fundamental purpose is to improve the health and well being of people in Oregon and beyond. As part of its multifaceted public mission, OHSU strives for excellence in educati...
EGAO00000000030 | EGA
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Genomics,MultiomicsBreast Cancer Cell Line Data Access Committee
Access to data is available by emailing application to the data access committee and will be granted to qualified investigators for appropriate use.
EGAC00000000015 | EGA
0
UnknownDiversity, functional classification and genotyping of SHV β-lactamases in <i>Klebsiella pneumoniae</i>.
Not available
S-EPMC11493186 | biostudies-literature
0
UnknownApplying Automated MR-Based Diagnostic Methods to the Memory Clinic: A Prospective Study.
Not available
S-EPMC4923764 | biostudies-literature
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