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GenomicsMouse ES cells expressing catalytically inactive Ring1B display impaired Ring1B and H3K27me3 deposition.
ChIP-seq for H3K27me3 and Ring1B was performed in WT mESCs and mESCs containing catalytically inactive Ring1B (I53A mutant). Cells expressing catalytically inactive Ring1B maintain the spatial distribution of Ring1B and H3K27me3 but at reduced levels. These findings support the notion that PRC2 recr...
ORGANISM(S): Mus musculus 
2015-09-20 | E-GEOD-69955 | biostudies-arrayexpress
UnknownCTLA4 blockade abrogates KEAP1/STK11-related resistance to PD-(L)1 inhibitors.
Not available
S-EPMC11560846 | biostudies-literature
TranscriptomicsDeep sequencing analysis of the developing mouse brain reveals a novel microRNA
MicroRNAs (miRNAs) are small non-coding RNAs that can exert multilevel inhibition/repression at a post-transcriptional or protein synthesis level during disease or development. Characterisation of miRNAs in adult mammalian brains by deep sequencing has been reported previously. However, to date, no ...
ORGANISM(S): Mus musculus 
2011-04-04 | E-GEOD-22653 | 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
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
ProteomicsProteome analysis of the retina from RhoQ344X/+ mouse
Retinal proteomes from wild-type and RhoQ344X mutant mice at postnatal day 35 were analyzed by label-free quantitative proteomics to understand proteomic change caused by the rhodopsin mutation.
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-11-08 | MSV000093339 | MassIVE
UnknownResults of the two incidence screenings in the National Lung Screening Trial.
Not available
S-EPMC4307922 | biostudies-literature
UnknownIntegrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Not available
S-EPMC9470534 | biostudies-literature
UnknownFine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Not available
S-EPMC6974400 | biostudies-literature
UnknownReduced lung-cancer mortality with low-dose computed tomographic screening.
Not available
S-EPMC4356534 | biostudies-literature
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