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TranscriptomicsIn vivo proximity labeling and sequencing (IPL-seq) for SNRPN70 in 293T-Rex
This proof-of-principle experiment was designed to demonstrate the feasibility of proximity labeling for RNAM-bM-^@M-^Sprotein interactions IPL-seq on 293T-Rex expressing MSA-SNRPN70 (sample) or NFH-SNRPN70 (control)
ORGANISM(S): Homo sapiens 
2014-10-24 | E-GEOD-55370 | biostudies-arrayexpress
ProteomicsA ubiquitin-based effector-to-inhibitor switch coordinates brain, craniofacial, and skin development
The molecular mechanisms that coordinate patterning of the embryonic ectoderm into spatially distinct lineages to form the nervous system, epidermis, and craniofacial structures are unclear. Here, biochemical disease-variant profiling reveals a posttranslational pathway that drives early ectodermal ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2022-11-14 | MSV000090711 | MassIVE
ProteomicsShared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases
UBA1 initiates most cellular ubiquitin signaling by activating and transferring ubiquitin to tens of E2 enzymes. Clonally acquired UBA1 missense mutations cause a severe inflammatory-hematologic overlap disease called VEXAS (vacuoles, E1, X-linked autoinflammatory, somatic) syndrome. Despite extensi...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
MSV000092914 | MassIVE
UnknownAntiviral drug screen identifies DNA-damage response inhibitor as potent blocker of SARS-CoV-2 replication.
Not available
S-EPMC7969873 | biostudies-literature
GenomicsSalt augments macrophage-driven host defense in the skin
Immune cells regulate a hypertonic microenvironment in the skin; however, possible functions of increased skin Na+ concentrations are unknown. We found that Na+ accumulated at the site of bacterial skin infections in humans and in mice. We used the protozoan parasite Leishmania (L.) major as a model...
ORGANISM(S): Mus musculus 
2015-02-26 | E-MTAB-3343 | biostudies-arrayexpress
UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Not available
S-EPMC8207526 | biostudies-literature
UnknownPhenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Not available
S-EPMC8048530 | biostudies-literature
UnknownVariants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Not available
S-EPMC8354857 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
UnknownSafety, Immunogenicity, and Efficacy of the NVX-CoV2373 COVID-19 Vaccine in Adolescents: A Randomized Clinical Trial.
Not available
S-EPMC10536880 | biostudies-literature
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