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Mendeley readers
Attention Score in Context
| Title |
CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, May 2015
|
| DOI | 10.1186/s13023-015-0270-5 |
| Pubmed ID | |
| Authors |
Mones Saleh, Gess Burkhardt, Bordignon Benoit, Altié Alexandre, Young Peter, Bihel Frederic, Fraterno Marc, Peiretti Franck, Fontes Michel |
| Abstract |
We previously described that fibroblasts from animal models of CMTX1 present genomic instability and poor connexon activity. In vivo, these transgenic mice present motor deficits. This phenotype could be significantly reverted by treatment with (CamKII) inhibitors. The objective of this study is to translate our findings to patients. We cultured fibroblasts from skin biopsies of CMTX1 patients and analyzed cells for genomic instabilty, connexon activity, and potential correction by CamKII inhibitors. The phenotypic analysis of these cells confirmed strong similarities between the GJB1 transgenic mouse cell lines and CMTX1 patient fibroblast cell lines. Both present mitotic anomalies, centrosome overduplication, and connexon activity deficit. This phenotype is corrected by CamKII inhibitors. Our data demonstrate that fibroblasts from CMTX1 patients present a phenotype similar to transgenic lines that can be corrected by CamKII inhibitors. This presents a track to develop therapeutic strategies for CMTX1 treatment. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 24 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 5 | 21% |
| Researcher | 4 | 17% |
| Student > Bachelor | 3 | 13% |
| Student > Ph. D. Student | 3 | 13% |
| Unspecified | 2 | 8% |
| Other | 3 | 13% |
| Unknown | 4 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 21% |
| Biochemistry, Genetics and Molecular Biology | 3 | 13% |
| Agricultural and Biological Sciences | 3 | 13% |
| Neuroscience | 3 | 13% |
| Unspecified | 2 | 8% |
| Other | 3 | 13% |
| Unknown | 5 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 07 May 2015.
All research outputs
#20,271,607
of 22,803,211 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,459
of 2,615 outputs
Outputs of similar age
#222,641
of 264,554 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#42
of 46 outputs
Altmetric has tracked 22,803,211 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,615 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.