Sort   by:  
 Page size 
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 
GenomicsAnnie Huang and the Hospital for Sick Children
Data Access Committee EGAC01000000015
EGAC01000000015 | EGA
ProteomicsIdentification of regulators of polyploidization presents therapeutic targetsfor treatment of AMKL
Wen Q, Goldenson B, Silver SJ, Schenone M, Dancik V, Huang Z, Wang LZ, Lewis TA, An WF, Li X, Bray MA, Thiollier C, Diebold L, Gilles L, Vokes MS, Moore CB, Bliss-Moreau M, Verplank L, Tolliday NJ, Mishra R, Vemula S, Shi J, Wei L, Kapur R, Lopez CK, Gerby B, Ballerini P, Pflumio F, Gilliland DG, Go...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2014-01-27 | MSV000078536 | MassIVE
UnknownBRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.
Not available
S-EPMC4356711 | biostudies-literature
MetabolomicsSubcellular antibiotic visualization reveals a dynamic drug reservoir in infected macrophages
Tuberculosis, caused by the intracellular pathogen Mycobacterium tuberculosis, remains the world's deadliest infectious disease. Sterilizing chemotherapy requires at least 6 months of multidrug therapy. Difficulty visualizing the subcellular localization of antibiotics in infected host cells means t...
2020-12-07 | MTBLS959 | MetaboLights
UnknownReproducibility of Ocular Surface Staining in the Assessment of Sjogren Syndrome-Related Keratoconjunctivitis Sicca: Implications on Disease Classification.
Not available
S-EPMC6710016 | biostudies-literature
UnknownRegularized estimation for the accelerated failure time model.
Not available
S-EPMC3073158 | biostudies-literature
UnknownChanges in bowel function following exoskeletal-assisted walking in persons with spinal cord injury: an observational pilot study.
Not available
S-EPMC7145720 | biostudies-literature
Unknown#COVIDisAirborne: AI-Enabled Multiscale Computational Microscopy of Delta SARS-CoV-2 in a Respiratory Aerosol.
Not available
S-EPMC8609898 | biostudies-literature
UnknownMicroRNA-195 rescues ApoE4-induced cognitive deficits and lysosomal defects in Alzheimer's disease pathogenesis.
Not available
S-EPMC7785685 | biostudies-literature
Sort   by:  
 Page size