| Title |
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure
|
|---|---|
| Published in |
BMC Medical Genomics, March 2007
|
| DOI | 10.1186/1471-2350-8-8 |
| Pubmed ID | |
| Authors |
Monica Rossi, Enzo Ricci, Luca Colantoni, Giuliana Galluzzi, Roberto Frusciante, Pietro A Tonali, Luciano Felicetti |
| Abstract |
The homologous 4q and 10q subtelomeric regions include two distinctive polymorphic arrays of 3.3 kb repeats, named D4Z4. An additional BlnI restriction site on the 10q-type sequence allows to distinguish the chromosomal origin of the repeats. Reduction in the number of D4Z4 repeats below a threshold of 10 at the 4q locus is tightly linked to Facioscapulohumeral Muscular Dystrophy (FSHD), while similar contractions at 10q locus, are not pathogenic. Sequence variations due to the presence of BlnI-sensitive repeats (10q-type) on chromosome 4 or viceversa of BlnI-resistant repeats (4q-type) on chromosome 10 are observed in both alleles. |
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 % |
|---|---|---|
| Italy | 1 | 5% |
| Unknown | 18 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 21% |
| Student > Ph. D. Student | 3 | 16% |
| Student > Postgraduate | 2 | 11% |
| Professor > Associate Professor | 1 | 5% |
| Student > Bachelor | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 8 | 42% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 4 | 21% |
| Biochemistry, Genetics and Molecular Biology | 3 | 16% |
| Medicine and Dentistry | 3 | 16% |
| Neuroscience | 1 | 5% |
| Unknown | 8 | 42% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 05 September 2019.
All research outputs
#8,535,472
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#637
of 2,444 outputs
Outputs of similar age
#32,489
of 90,410 outputs
Outputs of similar age from BMC Medical Genomics
#1
of 5 outputs
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So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 65% of its peers.
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