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TranscriptomicsFOXF1 promoter-putative enhancer chromatin looping
To determine if there is a physical interaction between the FOXF1 promoter and putative enhancer sequences ~250kb upstream of the promoter chromosome conformation capture-on-chip (4C) analysis was performed. An unanticipated and tremendous amount of the non-coding sequences of the human genome are t...
ORGANISM(S): Homo sapiens 
2012-07-10 | E-GEOD-39256 | biostudies-arrayexpress
TranscriptomicsDetection of non-coding deletion CNVs upstream to FOXF1 [Agilent-030795]
Genomic copy number analysis in patients with ACD/MPV. An unanticipated and tremendous amount of the non-coding sequences of the human genome are transcribed. Long non-coding RNAs (lncRNAs) are non-protein coding transcripts longer than 200 nucleotides and their functions remain enigmatic. We demons...
ORGANISM(S): Homo sapiens 
2012-07-10 | E-GEOD-39254 | biostudies-arrayexpress
TranscriptomicsHomologous recombination between nonhomologous chromosomes – Recurrent chromosomal translocations mediated by interchromosomal NAHR
Four unrelated families with the same unbalanced translocation der(4)t(4;11)(p16.2;p15.4) were identified. Both of the breakpoint regions in 4p16.2 and 11p15.4 were narrowed to large ~359-kb and ~215-kb low-copy repeat (LCR) clusters, respectively, by aCGH and SNP array analyses. DNA sequencing ena...
ORGANISM(S): Homo sapiens 
2010-08-17 | E-GEOD-23587 | biostudies-arrayexpress
TranscriptomicsRecurrent disruption of HIP1 identified in patients with epilepsy, learning difficulties, intellectual disability, and neurobehavioral abnormalities
We report 12 individuals from ten unrelated families with epilepsy, learning difficulties, intellectual disability, and neurobehavioral abnormalities, who segregated a microdeletion distally adjacent to the Williams-Beuren syndrome region. In six families, a recurrent ~ 1.1 Mb deletion likely result...
ORGANISM(S): Homo sapiens 
2010-08-28 | E-GEOD-23834 | biostudies-arrayexpress
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