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TranscriptomicsRibosomal Protein Gene Deletions in Diamond Blackfan Anemia
Diamond Blackfan anemia is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, often with associated physical abnormalities. Perturbations of the ribosome appear critically important to the development of DBA, as alterations in 9 different ribosomal protein genes ha...
ORGANISM(S): Homo sapiens 
2012-01-15 | E-GEOD-31575 | biostudies-arrayexpress
Transcriptomics5q- Myelodysplastic Syndrome Masquerading as Diamond Blackfan Anemia
Diamond Blackfan anemia is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, often with associated physical abnormalities. Perturbations of the ribosome appear critically important to the development of DBA, as alterations in 9 different ribosomal protein genes ha...
ORGANISM(S): Homo sapiens 
2013-11-05 | E-GEOD-42570 | biostudies-arrayexpress
ProteomicsOn-target toxicity limits the efficacy of CDK11 inhibition against cancers with 1p36 deletions
The cyclin-dependent kinase CDK11 is an understudied kinase that has been the subject of conflicting reports regarding its function in cancer. Here, we combine genetic and pharmacological approaches to demonstrate that CDK11 is a critical regulator of cancer cell survival that is required for RNA sp...
ORGANISM(S): Homo sapiens (Human) 
2026-08-07 | PXD079783 | Pride
Kinase inhibitor Ots964 Splicing Cdk11 Cell cycle 
UnknownFacilitated Nurse Medication-Related Event Reporting to Improve Medication Management Quality and Safety in Intensive Care Units.
Not available
S-EPMC5679090 | biostudies-literature
GenomicsGenome Variation among HIV-Resistant People with Hemophilia

Rare individuals are highly resistant to infection with human immunodeficiency virus (HIV). Studies of candidate genes resulted in the discovery of a 32bp deletion in the CC-chemokine receptor 5 gene (CCR5Δ32), which rendered this critical co-receptor for primary HIV infection to be non-func...

phs000445.v1.p1 | EGA
ProteomicsA pipeline that integrates the discovery and verification of plasma protein biomarkers reveals candidate markers for cardiovascular disease
Addona TA, Shi X, Keshishian H, Mani DR, Burgess M, Gillette MA, Clauser KR, Shen D, Lewis GD, Farrell LA, Fifer MA, Sabatine MS, Gerszten RE, Carr SA. Nat Biotechnol. 2011, 29(7):635-43. doi: 10.1038/nbt.1899. PMCID:PMC3366591. Discovery, AIMS, and MRM datasets Discovery_Tranche_hash: b/quYtp/Q8fY...
2013-12-19 | MSV000078513 | MassIVE
UnknownThe repeatability of cognitive performance: a meta-analysis.
Not available
S-EPMC6107569 | biostudies-literature
GenomicsA Study of the Genetic Causes of Complex Pediatric Disorders

The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children's Hospital Healthc...

phs000490.v1.p1 | EGA
ProteomicsDesign, Implementation and Multisite Evaluation of a System Suitability Protocol for the Quantitative Assessment of Instrument Performance in Liquid Chromatography-Multiple Reaction Monitoring-MS (LC-MRM-MS)
Multiple reaction monitoring (MRM) mass spectrometry coupled with stable isotope dilution (SID) and liquid chromatography (LC) is increasingly used in biological and clinical studies for precise and reproducible quantification of peptides and proteins in complex sample matrices. Robust LC-SID-MRM-MS...
ORGANISM(S): Bos Taurus 
PXD010535 | panorama
Genomicsena-DATASET-GoT2D/T2D-GENES-09-07-2016-02:03:47:226-1135 - samples
The GoT2D study includes ~2800 samples, half T2D cases and half T2D controls, of Northern European ancestry sequenced over 3 three technologies: deep whole exome sequencing, low-pass (4x) whole genome sequencing, and OMNI 2.5M genotyping. Samples were ascertained to be phenotypically "extreme" (e.g....
EGAD00001002247 | EGA
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