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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
|
|---|---|
| Published in |
European Journal of Human Genetics, October 2014
|
| DOI | 10.1038/ejhg.2014.202 |
| Pubmed ID | |
| Authors |
Mari J Tokita, Penny M Chow, Ghayda Mirzaa, Nicola Dikow, Bianca Maas, Bertrand Isidor, Cédric Le Caignec, Lynette S Penney, Giovanni Mazzotta, Laura Bernardini, Tiziana Filippi, Agatino Battaglia, Emilio Donti, Dawn Earl, Paolo Prontera |
| Abstract |
Small RNAs (miRNA, siRNA, and piRNA) regulate gene expression through targeted destruction or translational repression of specific messenger RNA in a fundamental biological process called RNA interference (RNAi). The Argonaute proteins, which derive from a highly conserved family of genes found in almost all eukaryotes, are critical mediators of this process. Four AGO genes are present in humans, three of which (AGO 1, 3, and 4) reside in a cluster on chromosome 1p35p34. The effects of germline AGO variants or dosage alterations in humans are not known, however, prior studies have implicated dysregulation of the RNAi mechanism in the pathogenesis of several neurodevelopmental disorders. We describe five patients with hypotonia, poor feeding, and developmental delay who were found to have microdeletions of chromosomal region 1p34.3 encompassing the AGO1 and AGO3 genes. We postulate that haploinsufficiency of AGO1 and AGO3 leading to impaired RNAi may be responsible for the neurocognitive deficits present in these patients. However, additional studies with rigorous phenotypic characterization of larger cohorts of affected individuals and systematic investigation of the underlying molecular defects will be necessary to confirm this.European Journal of Human Genetics advance online publication, 1 October 2014; doi:10.1038/ejhg.2014.202. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 50% |
| United Kingdom | 1 | 25% |
| Unknown | 1 | 25% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 37 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 5 | 14% |
| Student > Ph. D. Student | 5 | 14% |
| Student > Doctoral Student | 4 | 11% |
| Student > Bachelor | 3 | 8% |
| Student > Postgraduate | 3 | 8% |
| Other | 8 | 22% |
| Unknown | 9 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 30% |
| Biochemistry, Genetics and Molecular Biology | 7 | 19% |
| Psychology | 2 | 5% |
| Agricultural and Biological Sciences | 2 | 5% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
| Other | 5 | 14% |
| Unknown | 9 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 12. 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 08 March 2016.
All research outputs
#2,598,392
of 22,765,347 outputs
Outputs from European Journal of Human Genetics
#623
of 3,431 outputs
Outputs of similar age
#30,537
of 253,597 outputs
Outputs of similar age from European Journal of Human Genetics
#21
of 78 outputs
Altmetric has tracked 22,765,347 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,431 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.8. 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 253,597 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 87% of its contemporaries.
We're also able to compare this research output to 78 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 73% of its contemporaries.