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GenomicsExome-sequencing of two UFM individuals and their Fragile X family members.
Fragile X syndrome (FXS) is a monogenic neurodevelopmental disease often caused by a CGG triplet expansion in the 5’UTR of the FMR1 gene, which results in DNA methylation of the FMR1 promoter and its transcriptional silencing. Exceptional healthy individuals named "unmethylated full mutation (UFM)" ...
EGAS00001001737 | EGA
TranscriptomicsTranscriptional profiling of primary human macrophages with different stimuli
Primary human macrophages were cultured 1, 3 or 6 days with different stimuli. Macrophages are key cell types of the innate immune system regulating host defense, inflammation, tissue homeostasis and cancer. Within this functional spectrum diverse and often opposing phenotypes are displayed which ar...
ORGANISM(S): Homo sapiens 
2017-08-25 | E-MTAB-5913 | biostudies-arrayexpress
TranscriptomicsTranscriptional profiling of THP1-derived human macrophages with different stimuli
Macrophages are key cell types of the innate immune system regulating host defense, inflammation, tissue homeostasis and cancer. Within this functional spectrum diverse and often opposing phenotypes are displayed which are dictated by environmental clues and depend on highly plastic transcriptional ...
ORGANISM(S): Homo sapiens 
2017-08-25 | E-MTAB-5917 | biostudies-arrayexpress
Genomicsena-DATASET-NIBR-04-08-2016-14:28:22:169-118 - samples
Exome sequencing reads of two UFM individuals and their family members (totally 11 individuals) belonging to two different Fragile X families. Alignment files in BAM format are provided.
EGAD00001002276 | EGA
GenomicsNovartis-Cattolica UFM collaboration Data Access Committee
Data Access Committee EGAC00001000512
EGAC00001000512 | EGA
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