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GenomicWhole Genome Study for De Novo Mutation Rates

Germline mutations are the source of evolution and contribute substantially to many health-related processes. In this study, we use whole genome deep sequencing data from parents-offspring trios to examine the de novo point mutations (DNMs) in the offspring.

We studied correlation between ...

phs001055 | dbGaP
TranscriptomicsBTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia
RNAi mediated knockdown of BTG1 in the acute lymphoblastic cell line RS4;11 causes this cell line to become resistant to prednisolone treatment when compared to control cells. In this experiment we treated BTG1 knockdown RS4;11 cells and control RS4;11 cells either with prednisolone or a vehicle con...
ORGANISM(S): Homo sapiens 
2010-06-23 | E-GEOD-18027 | biostudies-arrayexpress
TranscriptomicsNuclear receptors Nur77 and Nurr1 modulate mesenchymal stromal cell migration
Expression analysis of migrating and non-migrating mesenchymal stromal cells (MSC) in fetal bone marrow Keywords: fetal bone marrow, mesenchymal stromal cells, migration, gene expression, genomics Three biological replates for both migrating and non-migrating mesenchymal stromal cells (MSC) in feta...
ORGANISM(S): Homo sapiens 
2011-10-23 | E-GEOD-24892 | biostudies-arrayexpress
UnknownMissense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.
Not available
S-EPMC6371741 | biostudies-literature
Genomicsena-DATASET-RADBOUDUMC-01-06-2015-11:22:06:411-305 - samples
Exome sequencing in 3 Möbius patients
EGAD00001001385 | EGA
GenomicsExome Sequencing in Moebius Syndrome
Möbius syndrome (MBS; MIM 157900) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The etiology of this syndrome has been an enigma since the initial description in 1880 by von Graaefe and in 1888 by Möbius, and it has been d...
EGAS00001001250 | EGA
GenomicsExome sequencing in Möbius syndrome
Data Access Committee EGAC00001000322
EGAC00001000322 | EGA
TranscriptomicsCord blood multipotent stromal cells exploit a unique immune suppressive mechanism
Expression patterns of Dendritic cells co cultured with cord blood MSC were compared with cord blood MSC (USSC). Putative immune suppressive candidates were tested to explain this inhibition. We find that cord blood MSC themselves are hardly immunogenic as tested with allogeneic T-cells. Dendritic c...
ORGANISM(S): Homo sapiens 
2010-08-03 | E-GEOD-23366 | biostudies-arrayexpress
TranscriptomicsTarget genes of LUMAN in dendritic cells
Differential gene expression upon overexpression of the active form of the transcription factor LUMAN in mouse dendritic cell line D2SC/1 retroviral overexpression of the active form of LUMAN, as a control GFP overexpression was used, two time points = 6h and 18h from the infection start point, time...
ORGANISM(S): Mus musculus 
2011-12-31 | E-GEOD-31285 | biostudies-arrayexpress
UnknownDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Not available
S-EPMC3677859 | biostudies-literature
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