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UnknownGenotoxic aldehyde stress prematurely ages hematopoietic stem cells in a p53-driven manner.
Not available
S-EPMC7614878 | biostudies-literature
UnknownManagement change following NGS diagnosis of inborn errors of immunity: The Australasian experience.
Not available
S-EPMC13629484 | biostudies-literature
UnknownSuccessful newborn screening for SCID in the Navajo Nation.
Not available
S-EPMC4420660 | biostudies-literature
TranscriptomicsTranscription profiling of rat epididymal and retroperitoneal fat
Comparison of gene expression profiles from epididymal and retroperitoneal fat in adult male SD rats.
ORGANISM(S): Rattus norvegicus 
2009-05-30 | E-MEXP-1993 | biostudies-arrayexpress
UnknownActivating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.
Not available
S-EPMC6612302 | biostudies-literature
ProteomicsOxidative Cyclization Reagents Reveal Tryptophan Cation-pi interactions
Raw data of the project "Oxidative Cyclization Reagents Reveal Tryptophan Cation-pi interactions"
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2024-01-18 | MSV000093891 | MassIVE
MetabolomicsHigh-fat diet fuels prostate cancer progression by rewiring the metabolome and amplifying the MYC program
Systemic metabolic alterations associated with increased consumption of saturated fat and obesity are linked with increased risk of prostate cancer progression and mortality, but the molecular underpinnings of this association are poorly understood. Here, we demonstrate in a murine prostate cancer m...
2019-08-22 | MTBLS135 | MetaboLights
Proteomics,MultiomicsAlveolar Injury and Regeneration Following Deletion of ABCA3
Lipidomics and proteomics characterization of lipid and protein changes in BALF from ABCA3 knockout mice compared to control.
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2017-08-22 | MSV000081473 | MassIVE
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
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
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