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Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

Overview of attention for article published in BMC Molecular and Cell Biology, June 2005
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Title
Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress
Published in
BMC Molecular and Cell Biology, June 2005
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

Mendeley readers

The data shown below were compiled from readership statistics for 66 Mendeley readers of this research output. Click here to see the associated Mendeley record.

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%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 May 2023.
All research outputs
#8,759,452
of 25,837,817 outputs
Outputs from BMC Molecular and Cell Biology
#348
of 1,244 outputs
Outputs of similar age
#24,532
of 68,976 outputs
Outputs of similar age from BMC Molecular and Cell Biology
#4
of 12 outputs
Altmetric has tracked 25,837,817 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,244 research outputs from this source. They receive a mean Attention Score of 4.0. This one is in the 47th percentile – i.e., 47% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 68,976 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 12 others from the same source and published within six weeks on either side of this one. This one is in the 8th percentile – i.e., 8% of its contemporaries scored the same or lower than it.