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ProteomicsUntargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases
Only half of individuals with suspected rare diseases receive a definitive genetic diagnosis following genomic testing. A genetic diagnosis allows access to appropriate patient care and reduces the number of potentially unnecessary interventions and related healthcare costs. Here, we demonstrate tha...
ORGANISM(S): Homo sapiens (Human) 
2024-09-03 | PXD055473 | Pride
Human Fibroblasts Pbmcs Hek293t Orbitrap 
TranscriptomicsDysregulation of Endometrial Inflammation Precedes the Development of Cytological Endometritis [mRNA]
The regulation of endometrial inflammation has important consequences for the resumption of bovine fertility post-partum. All cows experience bacterial influx into the uterus after calving; however a significant proportion fail to clear infection leading to the development of cytological endometriti...
ORGANISM(S): Bos taurus 
2015-08-01 | E-GEOD-66825 | biostudies-arrayexpress
TranscriptomicsHuman thyroid adenomas, carcinomas, and normals
Human samples of various thyroid carcinomas, adenomas, and normals, each from a different patient, had mRNA assays performed using Affymetrix HG_U133A arrays, with 22283 probe-sets. The 99 samples consisted of 4 normals, 10 follicular adenomas, 13 follicular carcinomas, 7 oncocytic adenomas, 8 onco...
ORGANISM(S): Homo sapiens 
2011-02-09 | E-GEOD-27155 | biostudies-arrayexpress
TranscriptomicsEGFR Mutation Promotes Glioblastoma Through Epigenome and Transcription Factor Network Remodeling
Epidermal Growth Factor Receptor (EGFR) gene amplification and mutations are the most common oncogenic events in Glioblastoma (GBM), but the mechanisms by which they promote aggressive tumor growth are not well understood. Here, through integrated epigenome and transcriptome analyses of cell lines, ...
ORGANISM(S): Homo sapiens 
2015-09-14 | E-GEOD-72468 | biostudies-arrayexpress
TranscriptomicsExpression profiling of microRNAs in primary melanocytes
DICER is a central regulator of microRNA maturation. However little is known about mechanisms regulating its expression in development or disease. While profiling miRNA expression in differentiating melanocytes, two populations were observed: some upregulated at the pre-miRNA stage, and others upre...
ORGANISM(S): Homo sapiens 
2010-04-15 | E-GEOD-21249 | biostudies-arrayexpress
UnknownCDK12 Loss Promotes Prostate Cancer Development While Exposing Vulnerabilities to Paralog-Based Synthetic Lethality.
Not available
S-EPMC10983964 | biostudies-literature
TranscriptomicsNovel mutations target distinct subgroups of medulloblastoma.
Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. To identify mutations that drive medulloblastoma we sequenced the entire genomes of 37 tumours and matched normal blood. One hundred and thirty-six genes harbouring somatic mutations in this discovery set wer...
ORGANISM(S): Homo sapiens 
2012-07-05 | E-GEOD-37418 | biostudies-arrayexpress
UnknownCRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Not available
S-EPMC2671575 | biostudies-literature
TranscriptomicsMolecular phenotyping of multiple mouse strains under metabolic challenge uncovers Elovl2 as a novel regulator of glucose-induced insulin secretion
Defective insulin secretion by pancreatic β cells underlies the development of type 2 diabetes (T2D). High fat diet-fed mice are commonly used to study diabetes progression, but studies are usually limited to a single strain, such as C57Bl/6J. Here, we use a systems biology approach to integrate la...
ORGANISM(S): Mus musculus 
2017-04-28 | E-GEOD-78183 | biostudies-arrayexpress
UnknownResults of the two incidence screenings in the National Lung Screening Trial.
Not available
S-EPMC4307922 | biostudies-literature
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