Sort   by:  
 Page size 
TranscriptomicsTranscription profiling of mouse LE-AP-2a mutants vs. wild-type P0 littermate lenses to investigate cell autonomous roles for AP-2alpha in lens vesicle separation and maintenance of the lens epithelial cell phenotype.
This is a comparative microarray analysis of LE-AP-2a mutants vs. wild-type P0 littermate lenses. This analysis revealed differential gene expression of 415 mRNAs, including reduced expression of genes important for maintaining lens epithelial cell phenotype, such as E-cadherin. Experiment Overall D...
ORGANISM(S): Mus musculus 
2009-01-31 | E-GEOD-14536 | biostudies-arrayexpress
ProteomicsDe novo heterozygous variants in POLR2A cause a neurodevelopmental syndrome with infantile-onset hypotonia
  ABSTRACT POLR2A encodes RPB1, the largest subunit of the RNA polymerase II (pol II) complex, which is responsible for transcription of all ~21,000 protein-encoding genes. Here we describe the first fifteen patients harboring de novo heterozygous variants in POLR2A. The majority presents with profo...
ORGANISM(S): Homo sapiens (Human) 
2019-09-02 | PXD011355 | Pride
Rpb1 De novo heterozygous variants Polr2a Rna polymerase ii 
GenomicsDe novo assembly of 150 Danish genomes reveals rich structural complexity
Most known genetic variation in human genomes has been called from comparison of short reads to the reference genome, an approach biased against finding complex variation. We sequenced 150 individuals from 50 parent-offspring trios with multiple insert-size libraries to very high coverage. We show t...
EGAS00001002108 | EGA
UnknownTuning of Ultra-Thin Gold Films by Photoreduction.
Not available
S-EPMC10064312 | biostudies-literature
UnknownDe Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Not available
S-EPMC6731360 | biostudies-literature
TranscriptomicsTranscription profiling of human peripheral blood mononuclear cells from healthy volunteers exposed to diesel exhaust inhalation
Background: Diesel exhaust (DE) is the primary source of urban fine particulate matter, which has been associated with cardiovascular disease in epidemiological studies. These effects may be related to oxidative stress and systemic inflammation with resulting perturbation of vascular homeostasis. Pe...
ORGANISM(S): Homo sapiens 
2008-06-15 | E-GEOD-7462 | biostudies-arrayexpress
TranscriptomicsCarbon-Deprivation-Driven Transcriptome Reprogramming in Detached Developmentally-Arresting Arabidopsis Inflorescences
Senescence is genetically-controlled and activated in mature tissues during ageing. However, immature plant tissues also display senescence-like symptoms when continuously exposed to adverse energy-depleting conditions. We used detached dark-held immature inflorescences of Arabidopsis thaliana to un...
ORGANISM(S): Arabidopsis thaliana 
2012-09-25 | E-GEOD-41099 | biostudies-arrayexpress
UnknownOptimizing de novo genome assembly from PCR-amplified metagenomes.
Not available
S-EPMC6511391 | biostudies-literature
MetabolomicsHuman Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice
Autism spectrum disorder (ASD) manifests as alterations in complex human behaviors including social communication and stereotypies. In addition to genetic risks, the gut microbiome differs between typically-developing (TD) and ASD individuals, though it remains unclear whether the microbiome contrib...
2019-07-04 | MTBLS726 | MetaboLights
UnknownFactors associated with D-dimer levels in HIV-infected individuals.
Not available
S-EPMC3953205 | biostudies-literature
Sort   by:  
 Page size