| Title |
MRPS18CP2 alleles and DEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
|
|---|---|
| Published in |
BMC Medical Genomics, December 2007
|
| DOI | 10.1186/1471-2350-8-81 |
| Pubmed ID | |
| Authors |
Ester Ballana, Josep Maria Mercader, Nathan Fischel-Ghodsian, Xavier Estivill |
| Abstract |
Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable clinical phenotypes. Biochemical and genetic data have suggested that nuclear background is the main factor involved in modulating the phenotypic expression of mutation A1555G. However, although a major nuclear modifying locus was located on chromosome 8p23.1 and regardless intensive screening of the region, the gene involved has not been identified. |
Mendeley readers
The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 5% |
| Unknown | 18 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 21% |
| Other | 3 | 16% |
| Student > Ph. D. Student | 3 | 16% |
| Professor > Associate Professor | 2 | 11% |
| Student > Doctoral Student | 1 | 5% |
| Other | 4 | 21% |
| Unknown | 2 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 5 | 26% |
| Agricultural and Biological Sciences | 5 | 26% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 5% |
| Business, Management and Accounting | 1 | 5% |
| Computer Science | 1 | 5% |
| Other | 2 | 11% |
| Unknown | 4 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. 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 22 October 2014.
All research outputs
#6,753,240
of 25,371,288 outputs
Outputs from BMC Medical Genomics
#449
of 2,444 outputs
Outputs of similar age
#34,868
of 167,401 outputs
Outputs of similar age from BMC Medical Genomics
#7
of 15 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd 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 81% 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 167,401 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 78% of its contemporaries.
We're also able to compare this research output to 15 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 53% of its contemporaries.