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ProteomicsCLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex
CLPB is a mitochondrial intermembrane space AAA+ domain–containing disaggregase. CLPB mutations are associated with 3-methylglutaconic aciduria and neutropenia; however, the molecular mechanism underscoring disease and the contribution of CLPB substrates to disease pathology remains unknown. Interac...
ORGANISM(S): Homo sapiens (Human) 
2024-01-18 | PXD042313 | Pride
Disaggregase Protein transport Mitochondria Protein quality control Mitochondrial disease 
GenomicThe Genetic Architecture of Smoking and Smoking Cessation

This study includes samples from two projects: Collaborative Genetic Study of Nicotine Dependence (COGEND; PI: Laura Bierut) and University of Wisconsin Transdisciplinary Tobacco Use Research Center (UW-TTURC; PI: Timothy Baker).

Data are available for an additional 1420 COGEND subjects th...

phs000404 | dbGaP
TranscriptomicsPrp8 Retinitis Pigmentosa Mutants Cause Defects in the Transition between the Catalytic Steps of Splicing
The essential process of pre-mRNA splicing must occur with high fidelity and efficiency for proper gene expression. The spliceosome employs DExD/H box helicases to promote on-pathway interactions while simultaneously minimizing errors. Prp8 and Snu114, an EF2-like GTPase, regulate the activity of th...
ORGANISM(S): Saccharomyces cerevisiae 
2016-07-21 | E-GEOD-75081 | biostudies-arrayexpress
TranscriptomicsA Genetic Interaction Map of RNA Processing Factors Reveals Links Between mRNA Processing Complexes
All classes of RNA undergo processing. The two largest RNA processing complexes are those involved in rRNA biogenesis and mRNA splicing. Because of their complexity and essential roles, it has been difficult to dissect the functional interactions within these machines as well as to identify possible...
ORGANISM(S): Saccharomyces cerevisiae 
2008-12-30 | E-GEOD-11634 | biostudies-arrayexpress
TranscriptomicsOrigin-Dependent Inverted-Repeat Amplification: Tests of a Model for Inverted DNA Amplification
DNA replication errors are a major driver of evolutionâ??from single nucleotide polymorphisms to large-scale copy number variations (CNVs). Here we test a specific replication-based model to explain the generation of interstitial, inverted triplications. While no genetic information is lost, the nov...
ORGANISM(S): Saccharomyces cerevisiae 
2015-10-30 | E-GEOD-74443 | biostudies-arrayexpress
GenomicPharmacogenetics of Efavirenz Discontinuation for Reported CNS Symptoms

This is an evaluation of genetic associations with efavirenz (EFV) discontinuation for central nervous system (CNS) symptoms within 12 months of treatment. Patients were treated at an HIV primary care clinic in Nashville TN from 1998 to 2012. Previously known SNPs in

phs001253 | dbGaP
GenomicPharmacogenomics of HIV Therapy - Atazanavir Bilirubin-related Side Effects

This is an evaluation of genetic associations with atazanavir (ATV) discontinuation for bilirubin-related causes within 12 months of treatment. Patients were treated at an HIV primary care clinic in Nashville TN from 1998 to 2012. A previously known SNP in UGT1A1 (rs887829) was used to define met...

phs001484 | dbGaP
TranscriptomicsGene expression profiling of invasive breast cancer events from the tamoxifen prevention trial
Gene expression profiling of invasive breast cancer events from the tamoxifen prevention trial validates low estrogen receptor mRNA level as the main determinant of tamoxifen resistance in estrogen receptor positive breast cancer. In NSABP Breast Cancer Prevention Trial (BCPT), tamoxifen reduced th...
ORGANISM(S): Homo sapiens 
2011-12-08 | E-GEOD-12665 | biostudies-arrayexpress
UnknownBaricitinib in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial and updated meta-analysis.
Not available
S-EPMC9333998 | biostudies-literature
UnknownTocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.
Not available
S-EPMC8084355 | biostudies-literature
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