| Title |
Molecular analysis of congenital scoliosis: a candidate gene approach
|
|---|---|
| Published in |
Human Genetics, February 2005
|
| DOI | 10.1007/s00439-005-1253-8 |
| Pubmed ID | |
| Authors |
Melissa K. Maisenbacher, Ji-Soo Han, Megan L. O’Brien, Michael R. Tracy, Bülent Erol, Alyssa A. Schaffer, John P. Dormans, Elaine H. Zackai, Kenro Kusumi |
| Abstract |
The etiology of congenital scoliosis is largely unknown. The severe vertebral disorder, spondylocostal dysostosis type 1, is associated with a homozygous delta-like 3 (DLL3) mutation. Scoliosis has been observed in a heterozygous DLL3 carrier, raising the possibility of its involvement in congenital scoliosis. We present the first molecular study of congenital scoliosis by analysis of the candidate gene DLL3 and demonstrate one novel missense variant. However, no novel or previously described mutations are present in our cohort, indicating that DLL3 mutations may not be a major cause of congenital scoliosis. Additionally, we have evaluated patients with congenital scoliosis not diagnosed with a known syndrome and identified a significant number of associated renal and cardiac anomalies and familial incidence of idiopathic scoliosis in this group. |
Mendeley readers
The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Argentina | 1 | 3% |
| Unknown | 32 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Postgraduate | 5 | 15% |
| Student > Bachelor | 5 | 15% |
| Other | 4 | 12% |
| Professor > Associate Professor | 4 | 12% |
| Researcher | 3 | 9% |
| Other | 9 | 27% |
| Unknown | 3 | 9% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 18 | 55% |
| Agricultural and Biological Sciences | 6 | 18% |
| Biochemistry, Genetics and Molecular Biology | 3 | 9% |
| Social Sciences | 1 | 3% |
| Decision Sciences | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 4 | 12% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 14 July 2018.
All research outputs
#4,696,560
of 22,789,076 outputs
Outputs from Human Genetics
#467
of 2,953 outputs
Outputs of similar age
#10,341
of 58,933 outputs
Outputs of similar age from Human Genetics
#4
of 16 outputs
Altmetric has tracked 22,789,076 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,953 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 done well, scoring higher than 76% of its peers.
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We're also able to compare this research output to 16 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 68% of its contemporaries.