Title |
Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress
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Published in |
BMC Molecular and Cell Biology, June 2005
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DOI | 10.1186/1471-2121-6-27 |
Pubmed ID | |
Authors |
Mauro Paradisi, Dayle McClintock, Revekka L Boguslavsky, Christina Pedicelli, Howard J Worman, Karima Djabali |
Abstract |
Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare sporadic disorder with an incidence of approximately 1 per 8 million live births. The phenotypic appearance consists of short stature, sculptured nose, alopecia, prominent scalp veins, small face, loss of subcutaneous fat, faint mid-facial cyanosis, and dystrophic nails. HGPS is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT), within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | 2% |
Unknown | 65 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 17 | 26% |
Student > Bachelor | 11 | 17% |
Other | 7 | 11% |
Student > Master | 6 | 9% |
Researcher | 6 | 9% |
Other | 9 | 14% |
Unknown | 10 | 15% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 23 | 35% |
Biochemistry, Genetics and Molecular Biology | 12 | 18% |
Medicine and Dentistry | 10 | 15% |
Neuroscience | 3 | 5% |
Engineering | 3 | 5% |
Other | 4 | 6% |
Unknown | 11 | 17% |