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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 
UnknownHomonuclear J-couplings and heteronuclear structural constraints.
Not available
S-EPMC12103888 | biostudies-literature
UnknownThe structural basis for recognition of base J containing DNA by a novel DNA binding domain in JBP1.
Not available
S-EPMC3141245 | biostudies-literature
UnknownTargeted 13C-13C distance measurements in a microcrystalline protein via J-decoupled rotational resonance width measurements.
Not available
S-EPMC4440578 | biostudies-literature
MetabolomicsMetabolic Drug Response Phenotyping in Colorectal Cancer Organoids by LC-QTOF-MS
As metabolic rewiring is crucial for cancer cell proliferation, metabolic phenotyping of patient-derived organoids is desirable to identify drug-induced changes and trace metabolic vulnerabilities of tumor subtypes. We established a novel protocol for metabolomic and lipidomic profiling of colorecta...
2021-10-12 | MTBLS2130 | MetaboLights
UnknownPhylogenetic Network of Mitochondrial COI Gene Sequences Distinguishes 10 Taxa Within the Neotropical Albitarsis Group (Diptera: Culicidae), Confirming the Separate Species Status of Anopheles albitarsis H (Diptera: Culicidae) and Revealing a Novel Lineage, Anopheles albitarsis J.
Not available
S-EPMC7954104 | biostudies-literature
MetabolomicsMetabolomics of the interaction between PPAR-alpha and age in the PPAR-alpha-null mouse (NMR assay)
Regulation between the fed and fasted state in mammals is partially controlled by peroxisome proliferator activated receptor-alpha (PPAR-alpha). Expression of the receptor is high in liver, heart and skeletal muscle, but decreases with age. A combined 1H NMR spectroscopy and GC-MS metabolomic approa...
2018-10-11 | MTBLS261 | MetaboLights
UnknownDaratumumab plus RVd for newly diagnosed multiple myeloma: final analysis of the safety run-in cohort of GRIFFIN.
Not available
S-EPMC7903234 | biostudies-literature
UnknownDaratumumab plus lenalidomide, bortezomib and dexamethasone in newly diagnosed multiple myeloma: Analysis of vascular thrombotic events in the GRIFFIN study.
Not available
S-EPMC9825872 | biostudies-literature
UnknownDaratumumab in transplant-eligible patients with newly diagnosed multiple myeloma: final analysis of clinically relevant subgroups in GRIFFIN.
Not available
S-EPMC11231363 | biostudies-literature
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