| Title |
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
|
|---|---|
| Published in |
BMC Medical Genomics, December 2009
|
| DOI | 10.1186/1471-2350-10-136 |
| Pubmed ID | |
| Authors |
Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo, Maria Rita Passos-Bueno |
| Abstract |
Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). Haploinsufficiency of the gene product (treacle) during embryonic development is the proposed molecular mechanism underlying TCS. However, it is still unknown if TCOF1 expression levels are decreased in post-embryonic human cells. |
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 % |
|---|---|---|
| Japan | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | 3% |
| Unknown | 33 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 8 | 24% |
| Professor > Associate Professor | 5 | 15% |
| Researcher | 4 | 12% |
| Student > Bachelor | 3 | 9% |
| Lecturer | 2 | 6% |
| Other | 7 | 21% |
| Unknown | 5 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 26% |
| Agricultural and Biological Sciences | 8 | 24% |
| Biochemistry, Genetics and Molecular Biology | 6 | 18% |
| Immunology and Microbiology | 1 | 3% |
| Nursing and Health Professions | 1 | 3% |
| Other | 2 | 6% |
| Unknown | 7 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 06 October 2023.
All research outputs
#7,960,512
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#564
of 2,444 outputs
Outputs of similar age
#48,086
of 173,687 outputs
Outputs of similar age from BMC Medical Genomics
#3
of 13 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done well, scoring higher than 75% of its peers.
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 173,687 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 71% of its contemporaries.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 76% of its contemporaries.