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TranscriptomicsArabidopsis cold regulated transcriptome, translatome and CSP1 RNA regulon
Transcriptome, translatome, and CSP1 RNA regulon analysis of 25-d-o Arabidopsis rosettes exposed to 12h low temperature (4C) treatment. 38 samples, 3 genotypes (35S:HF-RPL18, 35S:AtCSP1-FH#11, and atcsp1-1), 2 conditions (non-stress and cold), 3 RNA pools (total, polysomal, and CSP1 associated mRNAs...
ORGANISM(S): Arabidopsis thaliana 
2013-03-31 | E-GEOD-38030 | biostudies-arrayexpress
TranscriptomicsTranscriptome In Vivo Analysis (TIVA) of spatially defined single cells in intact live mouse and human brain tissue
Transcriptome profiling is an indispensable tool in advancing the understanding of single cell biology, but depends upon methods capable of isolating mRNA at the spatial resolution of a single cell. Current capture methods lack sufficient spatial resolution to isolate mRNA from individual in vivo re...
ORGANISM(S): Mus musculus 
2014-01-12 | E-GEOD-52525 | biostudies-arrayexpress
GenomicsAmplification of siRNA in Caenorhabditis elegans generates a transgenerational sequence-targeted histone H3 lysine 9 methylation footprint
Exogenous double-stranded RNA (dsRNA) has been shown to exert homology-dependent effects at the level of both target mRNA stability and chromatin structure. Using C. elegans undergoing RNAi as an animal model, we have investigated the generality, scope, and longevity of chromatin-targeted dsRNA effe...
ORGANISM(S): Caenorhabditis elegans 
2012-01-06 | E-GEOD-32631 | biostudies-arrayexpress
ProteomicsInfectERA: Challenges in clinical metaproteomics highlighted by the analysis of acute leukemia patients with gut colonization by multidrug-resistant Enterobacteriaceae
The microbiome has a strong impact on human health and disease and is therefore increasingly studied in a clinical context. Metaproteomics is also attracting considerable attention and such data can be efficiently generated today owing to improvements in mass spectrometry based proteomics. As we wil...
ORGANISM(S): Homo sapiens (Human) 
2019-01-14 | PXD011515 | Pride
Proteomics Multi-omics Human gut microbiome Metaproteome Mass spectrometry Clinical proteomics Data analysis Multidrug-resistant enterobacteriaceae 
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
UnknownMenke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Not available
S-EPMC11040166 | biostudies-literature
UnknownA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Not available
S-EPMC10806447 | biostudies-literature
UnknownGenetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.
Not available
S-EPMC4852730 | biostudies-literature
UnknownProtecting stable biological nomenclatural systems enables universal communication: A collective international appeal.
Not available
S-EPMC11328142 | biostudies-literature
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