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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 
UnknownPowdery mildew effectors AVRA1 and BEC1016 target the ER J-domain protein HvERdj3B required for immunity in barley.
Not available
S-EPMC11064805 | biostudies-literature
UnknownBrugada Syndrome-Associated Genetic Loci Are Associated With J-Point Elevation and an Increased Risk of Cardiac Arrest.
Not available
S-EPMC6048413 | biostudies-literature
UnknownAnalysis of wild-type and mutant SL3-3 murine leukemia virus insertions in the c-myc promoter during lymphomagenesis reveals target site hot spots, virus-dependent patterns, and frequent error-prone gap repair.
Not available
S-EPMC538719 | biostudies-literature
UnknownMutation of all Runx (AML1/core) sites in the enhancer of T-lymphomagenic SL3-3 murine leukemia virus unmasks a significant potential for myeloid leukemia induction and favors enhancer evolution toward induction of other disease patterns.
Not available
S-EPMC524987 | biostudies-literature
UnknownStructural and functional analysis of surface proteins from an A(H3N8) influenza virus isolated from New England harbor seals.
Not available
S-EPMC4325727 | biostudies-literature
TranscriptomicsHuman adipose tissue single-nucleus RNA-sequencing before and after lifestyle intervention
Single-nuclei RNA sequencing (snRNA-seq) data of human adipose tissue. The samples are a part of a study investigating the effect of Lifestyle intervention on human adipose tissue. The 10 participants represented in this study were severely obese at project start with a mean BMI of 46.0 ± 3.1 kg/m2 ...
ORGANISM(S): Homo sapiens 
2026-02-11 | E-MTAB-16620 | biostudies-arrayexpress
UnknownDynamical evidence for causality between galactic cosmic rays and interannual variation in global temperature.
Not available
S-EPMC4371914 | biostudies-literature
UnknownS-palmitoylation and s-oleoylation of rabbit and pig sarcolipin.
Not available
S-EPMC4256321 | biostudies-literature
MetabolomicsLongitudinal multi-omics reveals subset-specific mechanisms underlying irritable bowel syndrome

The gut microbiome has been implicated in multiple human chronic gastrointestinal (GI) disorders. Determining its mechanistic role in disease has been difficult due to apparent disconnects between animal and human studies and lack of an integrated multi-omics view of disease-specific physiologica...

2020-09-08 | MTBLS1396 | MetaboLights
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