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ProteomicsIdentification of RPL9 variants incorporated in mature ribosomes from patient's Lymphoblastoid cell line
Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic RP gene variants are also linked to a variety of phenotypes, including malignancy, in individuals with no anemia. Here w...
ORGANISM(S): Mus musculus (Mouse) 
2019-12-10 | PXD015218 | Pride
Ribosomes Rpl9 variants Label-free quantification Nanolc-ms/ms 
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
Protein homeostasis Proteasome Primary t-cells Psmc3 variants 
UnknownRibosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Not available
S-EPMC6954397 | biostudies-literature
UnknownDe Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Not available
S-EPMC6451728 | biostudies-literature
UnknownMutational landscape and patterns of clonal evolution in relapsed pediatric acute lymphoblastic leukemia.
Not available
S-EPMC7418874 | biostudies-literature
UnknownClinical syndromes linked to biallelic germline variants in MCM8 and MCM9.
Not available
S-EPMC12361757 | biostudies-literature
UnknownClinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30-year SIOP-RTSG experience.
Not available
S-EPMC7894534 | biostudies-literature
UnknownThe detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Borjeson-Forssman-Lehmann and White-Kernohan syndromes.
Not available
S-EPMC11186873 | biostudies-literature
UnknownPSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Not available
S-EPMC10506367 | biostudies-literature
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