Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Transcription profiling of primary fibroblasts from a family with autosomal recessive Hutchinson-Gilford Progeria Syndrome

ABSTRACT: 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 showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C (J Med Genet 2004;41:609M-^V614). With the aim to elucidate the molecular mechanisms underlying the pathogenesis of lamin A/C-related (hereditary) HGPS, we investigated primary cultured skin fibroblasts from affected homozygous K542N carriers (n=3), healthy heterozygotes (n=3), and controls (n=3) for differences in global gene expression using GeneChip Human Genome U133 Plus 2.0 arrays (Affymetrix UK Ltd.).

ORGANISM(S): Homo sapiens

DISEASE(S): Hutchinson-Gilford Progeria Syndrome

SUBMITTER: Martina Plasilova

PROVIDER: E-MEXP-3097 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).

Plasilova Martina M Chattopadhyay Chandon C Ghosh Apurba A Wenzel Friedel F Demougin Philippe P Noppen Christoph C Schaub Nathalie N Szinnai Gabor G Terracciano Luigi L Heinimann Karl K

PloS one 20110627 6

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 showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic) an ...[more]

PMID: 21738662

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Dataset Information

Transcription profiling of primary fibroblasts from a family with autosomal recessive Hutchinson-Gilford Progeria Syndrome

Publications

Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).

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