| Title |
Influence of genetic modifiers on sudden cardiac death cases
|
|---|---|
| Published in |
International Journal of Legal Medicine, December 2017
|
| DOI | 10.1007/s00414-017-1739-7 |
| Pubmed ID | |
| Authors |
Tina Jenewein, Thomas Neumann, Damir Erkapic, Malte Kuniss, Marcel A. Verhoff, Gerhard Thiel, Silke Kauferstein |
| Abstract |
Sequence variants in the ion channel genes KCNH2 and SCN5A may cause the cardiac disorder long QT syndrome (LQTS). This disorder is associated with incomplete penetrance and variable expression in KCNH2- or SCN5A-mutation carriers. Common genetic variants, if associated with a mutation, may affect the severity of this cardiac disorder. This study identified rare mutations in the cardiac ion channel genes KCNH2 and SCN5A in a SCD case, as well as in a LQTS-affected family with a history of SCD. Moreover, common variants were found to occur together within the same genes. These findings support the concept that common single-nucleotide polymorphisms (SNPs) in genes encoding cardiac ion channels can directly modulate the functional effect of mutations and therefore enhance or weaken the risk of cardiac events. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 20 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 30% |
| Other | 2 | 10% |
| Student > Bachelor | 2 | 10% |
| Student > Doctoral Student | 2 | 10% |
| Student > Master | 2 | 10% |
| Other | 2 | 10% |
| Unknown | 4 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 6 | 30% |
| Agricultural and Biological Sciences | 5 | 25% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 10% |
| Environmental Science | 1 | 5% |
| Medicine and Dentistry | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 3 | 15% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 09 February 2018.
All research outputs
#14,960,072
of 23,009,818 outputs
Outputs from International Journal of Legal Medicine
#857
of 2,084 outputs
Outputs of similar age
#252,774
of 439,982 outputs
Outputs of similar age from International Journal of Legal Medicine
#24
of 60 outputs
Altmetric has tracked 23,009,818 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,084 research outputs from this source. They receive a mean Attention Score of 4.6. This one has gotten more attention than average, scoring higher than 54% 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 439,982 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 39th percentile – i.e., 39% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 60 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 55% of its contemporaries.