| Title |
Pax6 3′ deletion results in aniridia, autism and mental retardation
|
|---|---|
| Published in |
Human Genetics, March 2008
|
| DOI | 10.1007/s00439-008-0484-x |
| Pubmed ID | |
| Authors |
L. K. Davis, K. J. Meyer, D. S. Rudd, A. L. Librant, E. A. Epping, V. C. Sheffield, T. H. Wassink |
| Abstract |
The PAX6 gene is a transcription factor expressed early in development, predominantly in the eye, brain and gut. It is well known that mutations in PAX6 may result in aniridia, Peter's anomaly and kertatisis. Here, we present mutation analysis of a patient with aniridia, autism and mental retardation. We identified and characterized a 1.3 Mb deletion that disrupts PAX6 transcriptional activity and deletes additional genes expressed in the brain. Our findings provide continued evidence for the role of PAX6 in neural phenotypes associated with aniridia. |
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 % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Science communicators (journalists, bloggers, editors) | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 101 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | <1% |
| United States | 1 | <1% |
| Italy | 1 | <1% |
| Singapore | 1 | <1% |
| Unknown | 97 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 19 | 19% |
| Student > Ph. D. Student | 16 | 16% |
| Researcher | 13 | 13% |
| Student > Master | 13 | 13% |
| Professor | 7 | 7% |
| Other | 19 | 19% |
| Unknown | 14 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 24 | 24% |
| Biochemistry, Genetics and Molecular Biology | 21 | 21% |
| Neuroscience | 14 | 14% |
| Medicine and Dentistry | 12 | 12% |
| Nursing and Health Professions | 3 | 3% |
| Other | 11 | 11% |
| Unknown | 16 | 16% |
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 08 November 2012.
All research outputs
#6,377,904
of 22,661,413 outputs
Outputs from Human Genetics
#802
of 2,948 outputs
Outputs of similar age
#25,119
of 79,723 outputs
Outputs of similar age from Human Genetics
#3
of 5 outputs
Altmetric has tracked 22,661,413 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 2,948 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one has gotten more attention than average, scoring higher than 71% 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 79,723 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 66% of its contemporaries.
We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.