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ProteomicsNUDCD3 deficiency disrupts V(D)J recombination to cause SCID/Omenn syndrome
Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 9 affected patients across 3 consanguineous kindreds, we detected homozygosity for a single deleterious missense variant in the gene NudC domain containing 3 (NUD...
ORGANISM(S): Homo sapiens (Human) 
2024-09-27 | PXD035840 | Pride
Pulldown Nudcd3 Proteomics Omenn syndrome 
UnknownACVIM consensus statement on diagnosis and management of urinary incontinence in dogs.
Not available
S-EPMC10937496 | biostudies-literature
UnknownAddressing unmeasured confounding bias with a prior knowledge guided approach: coronary artery bypass grafting (CABG) versus percutaneous coronary intervention (PCI) in patients with stable ischemic heart disease.
Not available
S-EPMC9210342 | biostudies-literature
UnknownTargeted disruption of steroidogenic acute regulatory protein D4 leads to modest weight reduction and minor alterations in lipid metabolism.
Not available
S-EPMC2853440 | biostudies-literature
UnknownHigh-dose corticosteroids in patients hospitalized for COVID-19 pneumonia: an observational study of comparative effectiveness.
Not available
S-EPMC9621697 | biostudies-literature
UnknownUse of multidimensional item response theory methods for dementia prevalence prediction: an example using the Health and Retirement Survey and the Aging, Demographics, and Memory Study.
Not available
S-EPMC8356410 | biostudies-literature
MetabolomicsUncovering the Complexity of the Yeast Lipidome by Means of nLC/NSI-MS/MS
Saccharomyces cerevisiae is a eukaryotic model organism widely used for the investigation of fundamental cellular processes and disease mechanisms. Consequently, the lipid landscape of yeast has been extensively investigated and up to this day the lipidome is considered as rather basic. Here, we use...
2021-01-08 | MTBLS2119 | MetaboLights
UnknownPotential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.
Not available
S-EPMC9181140 | biostudies-literature
UnknownADAM8 signaling drives neutrophil migration and ARDS severity.
Not available
S-EPMC8855804 | biostudies-literature
TranscriptomicsGene expression comparison of E14.5 Foxd1 null and wild type kidneys
Forkhead transcription factors are essential for diverse processes in early embryonic development and organogenesis. Foxd1 is required during kidney development and its inactivation results in failure of nephron progenitor cell differentiation. Foxd1 is expressed in interstitial cells adjacent to ne...
ORGANISM(S): Mus musculus 
2013-11-14 | E-GEOD-52354 | biostudies-arrayexpress
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