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TranscriptomicsRecapitulation of human premature aging by using iPSCs from Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal human premature aging disease1-5, characterized by premature atherosclerosis and degeneration of vascular smooth muscle cells (SMCs)6-8. HGPS is caused by a single-point mutation in the LMNA gene, resulting in the generation of progerin...
ORGANISM(S): Homo sapiens 
2011-03-14 | E-GEOD-24487 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of primary fibroblasts from a family with autosomal recessive Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is a genetic disorder displaying features reminiscent of premature senescence caused by germline mutations in the LMNA gene encoding lamin A and C, essential components of the nuclear lamina. By studying a family with homozygous LMNA mutation (K542N), we s...
ORGANISM(S): Homo sapiens 
2011-06-27 | E-MEXP-3097 | biostudies-arrayexpress
TranscriptomicsGenome-wide DNA methylation profiling of Progeria and Werner syndrome patients
DNA methylation gradiently changes with age and is likely to be involved in aging-related processes resulting in phenotype changes and increased susceptibility to certain diseases. The Hutchinson-Gilford Progeria Syndrome (HGP) and Werner Syndrome are two premature aging diseases showing features of...
ORGANISM(S): Homo sapiens 
2013-01-14 | E-GEOD-42865 | biostudies-arrayexpress
TranscriptomicsNAT10 inhibition improves cellular phenotypes of Hutchinson-Gilford progeria syndrome by restoring the Transportin-1 pathway
In this experiment, we aim to examine the role of NAT10 inhibition in Hutchinson-Gilford progeria syndrome (HGPS), a rare but devastating premature ageing syndrome caused by a mutation in the LMNA gene. NAT10 inhibition improves HGPS cellular phenotypes by releasing Transportin-1 (TNPO1) from the cy...
ORGANISM(S): Homo sapiens 
2018-06-25 | E-MTAB-6651 | biostudies-arrayexpress
GenomicsCorrelated alterations in genome organization, histone methylation, and DNA-lamina interactions in Hutchinson-Gilford progeria syndrome (ChIP-seq)
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease that is frequently caused by a de novo point mutation at position 1824 in LMNA. This mutation activates a cryptic splice donor site in exon 11, and leads to an in-frame deletion within the prelamin A mRNA and the production of ...
ORGANISM(S): Homo sapiens 
2012-10-30 | E-GEOD-41757 | biostudies-arrayexpress
ProteomicsQuantitative Proteomics Study (iTRAQ) of Progeria Cell Lines
A quantitative proteomic study of three HGPS cell lines from affected patients and three healthy controls from unaffected progenitors
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-10-03 | MSV000081576 | MassIVE
GenomicsCorrelated alterations in genome organization, histone methylation, and DNA-lamina interactions in Hutchinson-Gilford progeria syndrome (Hi-C)
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease that is frequently caused by a de novo point mutation at position 1824 in LMNA. This mutation activates a cryptic splice donor site in exon 11, and leads to an in-frame deletion within the prelamin A mRNA and the production of ...
ORGANISM(S): Homo sapiens 
2012-10-30 | E-GEOD-41763 | biostudies-arrayexpress
TranscriptomicsA human iPSC model of Hutchinson Gilford Progeria Syndrome reveals a possible mesenchymal stem cell defect
Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic genetic disease caused by mutations in the nuclear lamin A gene. In most cases the mutation creates an efficient donor-splice site that generates an altered transcript encoding a truncated lamin A protein, progerin. In vitro studies ha...
ORGANISM(S): Homo sapiens 
2010-12-23 | E-GEOD-26093 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of human Hutchinson-Gilord progeria syndrome fibroblast cell lines with dominant mutation in the LMNA gene and age-matched normal controls
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease with widespread phenotypic features resembling premature aging. HGPS was recently shown to be caused by dominant mutations in the LMNA gene, resulting in the in-frame deletion of 50 amino acids near the carboxyl terminus of the en...
ORGANISM(S): Homo sapiens 
2007-12-12 | E-GEOD-3860 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of human fibroblasts from patients with HGPS compared to age matched controls treated both control and HGPS fibroblasts with a protein farnesyltransferase inhibitor (FTI)
We analyzed and compared global gene expression changes in fibroblasts from human subjects with HGPS compared to age matched controls. We then treated both control and HGPS fibroblasts with a protein farnesyltransferase inhibitor (FTI), a medication currently used in clinical trials to treat HGPS, ...
ORGANISM(S): Homo sapiens 
2010-06-01 | E-MEXP-2597 | biostudies-arrayexpress
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