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MetabolomicsFlow cytometry has a significant impact on the cellular metabolome (GC-MS assay)
The characterization of specialized cell subpopulations in a heterogeneous tissue is essential for understanding organ function in health and disease. A popular method of cell isolation is fluorescence-activated cell sorting (FACS) based on probes that bind surface or intracellular markers. In this ...
2018-11-06 | MTBLS634 | MetaboLights
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
MetabolomicsGNPS - MITOMICS: defining mitochondrial protein functions through deep multi-omic profiling
Mitochondria are epicenters of eukaryotic metabolism and bioenergetics. Pioneering efforts in recent decades have established the core protein componentry of these organelles and have linked their dysfunction to over 150 distinct disorders. However, hundreds of mitochondrial proteins still lack clea...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-01-11 | MSV000086685 | GNPS
ProteomicsMITOMICS: defining mitochondrial protein functions through deep multi-omic profiling
Mitochondria are epicenters of eukaryotic metabolism and bioenergetics. Pioneering efforts in recent decades have established the core protein componentry of these organelles and have linked their dysfunction to over 150 distinct disorders. However, hundreds of mitochondrial proteins still lack clea...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-01-11 | MSV000086685 | MassIVE
Unknown3D reconstruction of murine mitochondria reveals changes in structure during aging linked to the MICOS complex.
Not available
S-EPMC10726809 | biostudies-literature
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
UnknownMinimal manifestation status and prednisone withdrawal in the MGTX trial.
Not available
S-EPMC7455358 | biostudies-literature
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