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MetabolomicsRare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

We investigated the cumulative contribution of rare, exonic genetic variants on the concentration of 1,487 metabolites and 53,714 metabolite ratios in urine by performing gene-based tests based on 226,233 variants from up to 4,864 participants of the German Chronic Kidney Disease (GCKD)...

2021-03-09 | MTBLS284 | MetaboLights
TranscriptomicsIdentification of differentially regulated splice variants and novel exons in glial brain tumors using exon arrays
Aberrant splice variants are involved in the initiation and/or progression of glial brain tumors. We therefore set out to identify splice variants that are differentially expressed between histological subgroups of gliomas. Splice variants were identified using a novel platform that profiles the exp...
ORGANISM(S): Homo sapiens 
2008-01-28 | E-GEOD-9385 | biostudies-arrayexpress
ProteomicsIdentification of differentially expressed splice variants by the proteogenomic pipeline SPLICIFY
Proteogenomics, i.e. comprehensive integration of genomics and proteomics data, is a powerful approach identifying novel protein biomarkers. This is especially the case for proteins that differ structurally between disease and control conditions. As tumor development is associated with aberrant spli...
ORGANISM(S): Homo sapiens (Human) 
2017-07-28 | PXD006486 | Pride
Human Proteogenomics Splicing Crc Label-free Colorectal cancer 
ProteomicsSearching NE-enriched proteomics datasets for splice junction peptides
MudPIT datasets for NaOH-extracted and Salt-and-Detergent (SD)-extracted rat nuclear membranes were obtained from skeletal muscle and liver tissue as described in the following references: Wilkie GS, Korfali N, Swanson SK, Malik P, Srsen V, Batrakou DG, de las Heras J, Zuleger N, Kerr AR, Florens L,...
ORGANISM(S): Rattus Norvegicus (ncbitaxon:10116) 
2018-01-18 | MSV000081951 | MassIVE
TranscriptomicsA Novel Androgen Receptor Splice Variant Is Upregulated during Prostate Cancer Progression
The androgen receptor (AR) plays a key role in progression to incurable androgen-ablation resistant prostate cancer (PCA). We have identified three novel AR splice variants lacking the ligand binding domain (designated as AR3, AR4 and AR5) in hormone insensitive PCA cells. AR3, one of the major spl...
ORGANISM(S): Homo sapiens 
2009-03-16 | E-GEOD-13919 | biostudies-arrayexpress
GenomicsSplice variants in Human and rhesus macaque KIR alleles.
Splice variants in Human and rhesus macaque KIR alleles.
PRJEB27409 | ENA
GenomicsThe cistrome and transcriptome landscape of androgen receptor splice variants in castration-resistant prostate cancer cells
The spliced variant forms of androgen receptor (AR-Vs) have been identified recently in castration-resistant prostate cancer (CRPC) cell lines and clinical samples. Here we identified the cistrome and transcriptome landscape of AR-Vs in CRPC cell lines and determine the clinical significance of AR v...
ORGANISM(S): Homo sapiens 
2014-09-10 | E-GEOD-58478 | biostudies-arrayexpress
TranscriptomicsAlternatively Spliced Variants of Interleukin-4 Promote Inflammation Differentially
IL-4d2 is a natural splice variant of IL-4 which lacks the region encoded by the second exon. Numerous recent reports suggested that the expression levels of IL-4d2 change in various diseases, especially those with pulmonary involvement, but the effects of IL-4d2 on the lungs in vivo have never been...
ORGANISM(S): Mus musculus 
2011-03-07 | E-GEOD-23016 | biostudies-arrayexpress
ProteomicsHA-MOP knockin mice express the canonical µ-opioid receptor but lack detectable splice variants
G protein-coupled receptors (GPCRs) are notoriously difficult to detect in native tissues. In an effort to resolve this problem, we have developed a novel mouse model by fusing the hemagglutinin (HA)-epitope tag sequence to the amino-terminus of the µ-opioid receptor (MOP). Although HA-MOP knock-in ...
ORGANISM(S): Mus musculus (Mouse) 
2022-12-07 | PXD027825 | Pride
Brain Mouse Pharmacology Mop splice variants Opioid receptor family Nanolc-ms/ms cid/etd Phosphorylation 
ProteomicsIdentification of alternative splice variants using unique isoform-specific tryptic peptide sequences for database searches
Alternative splicing is a mechanism in eukaryotes by which different forms of messenger RNAs (mRNAs) are generated from the same gene. Identification of alternative splice variants requires the identification of peptides specific for alternative splice forms. For this purpose, we generated a human d...
ORGANISM(S): Homo sapiens (Human) 
2017-05-19 | PXD006026 | Pride
Protein species Proteomics Alternative splicing Mass spectrometry Phosphorylation Proteoform Isoforms 
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