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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
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
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
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
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
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
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
UnknownStatistical analysis of repertoire data demonstrates the influence of microhomology in V(D)J recombination.
Not available
S-EPMC11507937 | biostudies-literature
UnknownStatistical analysis of repertoire data demonstrates the influence of microhomology in V(D)J recombination.
Not available
S-EPMC11963759 | biostudies-literature
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