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In this study, we screened human placental samples for allele-specific methylation and subsequently novel imprinted genes associated with these regions. We used reduced representation bisulfite sequencing to identify partially methylated CpG islands (CGIs) in the human placental genome. We were able...
ORGANISM(S): Homo sapiens 
To search for genetic sources of allele-specific mRNA translation, we leveraged heterozygous polymorphisms and variants present in the exome of HCT116-derived cell lines, computing allelic fractions in total and polysome-associated RNA from RNA-seq data. Allelic imbalance in polysomal RNA led us to ...
ORGANISM(S): Homo sapiens (Human) 
2026-09-16 | PXD063767 | Pride
A reporter transgene displayed parental imprinting in mouse embryos when positioned into the Itga6 gene. The strong lacZ pattern of expression scored in embryos inheriting the transgene from a male was not present when transmitted from a female. The transgene exhibited maternal allele-specific DNA ...
ORGANISM(S): Mus musculus 
In developing B cells the immunoglobulin heavy chain (IgH) locus is thought to move from repressive to permissive chromatin compartments to facilitate its scheduled rearrangement. In mature B cells, maintenance of allelic exclusion has been proposed to involve recruitment of the non-productive IgH a...
ORGANISM(S): Mus musculus 
By comparing mouse fibroblasts from two parental strains (Bl6 and Spretus) with fibroblasts from their first generation offspring (F1) we can detect allele specific expression of proteins. The Bl6 and Spretus lines are evolutionary distant and harbour many SNPs in their genomes which when synonomous...
ORGANISM(S): Mus musculus (Mouse) 
2015-08-18 | PXD002337 | Pride
Mutation of the GABRA1 gene is associated with neurodevelopmental defects and epilepsy. GABRA1 encodes for the α1 subunit of the gamma-aminobutyric acid type A receptor (GABAAR), which regulates the fast inhibitory impulses of the nervous system. Multiple model systems have previously been developed...
ORGANISM(S): Danio rerio (Zebrafish) (Brachydanio rerio) 
2025-07-14 | PXD045670 | Pride
Background: During early embryonic development, one of the two X chromosomes in mammalian female cells is inactivated to compensate for a potential imbalance in transcript levels with male cells containing a single X chromosome. We use mouse female Embryonic Stem Cells (ESCs) with nonrandom XCI and ...
ORGANISM(S): Mus musculus 
DRB1*New Allele
To search for genetic sources of allele-specific mRNA translation, we leveraged heterozygous polymorphisms and variants present in the exome of HCT116-derived cell lines, computing allelic fractions in total and polysome-associated RNA from RNA-seq data. Allelic imbalance in polysomal RNA led us to ...
ORGANISM(S): Homo Sapiens 
2026-06-17 | PXD073180 | panorama
Treatment of von Willebrand disease (VWD) has been topic of discussions and research for several decades. The (genetic) heterogeneity of the inherited bleeding disorder remains one of the biggest obstacles for proper treatment, as well as the high costs of (recombinant) factor concentrates of VWF. I...
ORGANISM(S): Homo sapiens (Human) 
2026-03-09 | PXD064937 | Pride
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