Exon array analysis in primary human fibroblasts
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Kan Cao
PROVIDER: E-GEOD-28863 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts.
Cao Kan K Blair Cecilia D CD Faddah Dina A DA Kieckhaefer Julia E JE Olive Michelle M Erdos Michael R MR Nabel Elizabeth G EG Collins Francis S FS
The Journal of clinical investigation 20110613 7
Hutchinson-Gilford progeria syndrome (HGPS), a devastating premature aging disease, is caused by a point mutation in the lamin A gene (LMNA). This mutation constitutively activates a cryptic splice donor site, resulting in a mutant lamin A protein known as progerin. Recent studies have demonstrated that progerin is also produced at low levels in normal human cells and tissues. However, the cause-and-effect relationship between normal aging and progerin production in normal individuals has not ye ...[more]
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