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TranscriptomicsEvaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling
For more than a decade, microarrays have been a powerful and widely used tool to explore the transcriptome of biological systems. However, the amount of biological material from cell sorting or laser capture microdissection is much too small to perform microarray studies. To address this issue, RNA ...
ORGANISM(S): Homo sapiens 
2009-06-02 | E-GEOD-15398 | biostudies-arrayexpress
TranscriptomicsHeLa cell mitochondrial microRNAs
MicroRNAs (miRNAs) are small non-coding RNAs that associate with Argonaute 2 protein to regulate gene expression at the post-transcriptional level in the cytoplasm. However, recent studies have reported that some miRNAs localize to and function in other cellular compartments. Mitochondria harbour th...
ORGANISM(S): Homo sapiens 
2011-10-05 | E-GEOD-24761 | biostudies-arrayexpress
TranscriptomicsIsolation and transcriptional profiling of embryonic human neural crest cells
To identify new candidate genes for neurocristopathies, a Long-SAGE library has been made from human neural crest cells (hNCC) derived from a normal embryo at Carnegie stage 13. Data analysis indicates the expression of a number of genes in multiple GO functional classes that were anticipated based...
ORGANISM(S): Homo sapiens 
2008-08-07 | E-GEOD-8368 | biostudies-arrayexpress
TranscriptomicsTranscriptional analysis of the effect of Alprostadil on NPHP1 URECs
Micro-array experiment was performed on URECs (Urine-derived Renal Epithelial Cells) from a patient carrying recessive NPHP1 mutation. URECs were treated either with 0.04% of DMSO or 2µM of Alprostadil for 24h.
ORGANISM(S): Homo sapiens 
2022-04-05 | E-MTAB-11582 | biostudies-arrayexpress
GenomicsGenetic analysis of Hirschsprung disease

Hirschsprung disease (HSCR) is a birth defect resulting from the absence of nerve (ganglion) cells in the gastrointestinal tract. Hirschsprung disease has a population incidence of 1/5,000 live births and most often occurs as an isolated condition. However, approximately 30% of HSCR cases are ass...

phs000497.v1.p1 | EGA
TranscriptomicsTranscription profiling of human neural crest cells
The expression profiles of five human trunk level neural crest cell lines were determined on Affymetrix chips HG U133 Plus 2.0. Experiment Overall Design: Total RNA was extracted from a confluent 10 cm dish of hNCC (lines N1-N5) from five human embryos at 26-32 dpf (Carnegie stages 12 & 13).
ORGANISM(S): Homo sapiens 
2009-09-13 | E-GEOD-14340 | biostudies-arrayexpress
TranscriptomicsTranscriptional analysis of NPHP1 URECs
Bulk RNAseq of URECs (Urine-derived Renal Epithelial Cells) from controls or patients carrying recessive NPHP1 mutations.
ORGANISM(S): Homo sapiens 
2022-04-04 | E-MTAB-11593 | biostudies-arrayexpress
TranscriptomicsTranscriptional analysis of Nphp1-/- KO mouse model kidneys in response to Alprostadil treatment
Bulk RNAseq of kidneys from 5 months-old mice invalidated for Nphp1, which is the main gene responsible for Nephronophtisis, after 4 months of treatment with daily intraperitoneal injection of vehicle of Alprostadil (80µg/kg).
ORGANISM(S): Mus musculus 
2022-04-05 | E-MTAB-11595 | biostudies-arrayexpress
TranscriptomicsTranscriptional analysis of Nphp1-/- KO mouse model kidneys
Bulk RNAseq of kidneys from 5 months-old mice invalidated for Nphp1 which is the main gene responsible for Nephronophtisis, a genetic kidney disease
ORGANISM(S): Mus musculus 
2022-04-04 | E-MTAB-11594 | biostudies-arrayexpress
Genomicsena-DATASET-BAMS-05-01-2017-02:07:22:122-13 - samples
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.
EGAD00001003130 | EGA
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