| Title |
Current insights into renal ciliopathies: what can genetics teach us?
|
|---|---|
| Published in |
Pediatric Nephrology, July 2012
|
| DOI | 10.1007/s00467-012-2259-9 |
| Pubmed ID | |
| Authors |
Heleen H. Arts, Nine V. A. M. Knoers |
| Abstract |
Ciliopathies are a group of clinically and genetically overlapping disorders whose etiologies lie in defective cilia. These are antenna-like organelles on the apical surface of numerous cell types in a variety of tissues and organs, the kidney included. Cilia play essential roles during development and tissue homeostasis, and their dysfunction in the kidney has been associated with renal cyst formation and renal failure. Recently, the term "renal ciliopathies" was coined for those human genetic disorders that are characterized by nephronophthisis, cystic kidneys or renal cystic dysplasia. This review focuses on renal ciliopathies from a human genetics perspective. We survey the newest insights with respect to gene identification and genotype-phenotype correlations, and we reflect on candidate ciliopathies. The opportunities and challenges of next-generation sequencing (NGS) for genetic renal research and clinical DNA diagnostics are also reviewed, and we discuss the contribution of NGS to the development of personalized therapy for patients with renal ciliopathies. |
Mendeley readers
The data shown below were compiled from readership statistics for 100 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 2 | 2% |
| Sweden | 1 | 1% |
| South Africa | 1 | 1% |
| Unknown | 96 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 16 | 16% |
| Student > Ph. D. Student | 15 | 15% |
| Student > Master | 12 | 12% |
| Other | 11 | 11% |
| Student > Doctoral Student | 8 | 8% |
| Other | 23 | 23% |
| Unknown | 15 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 32 | 32% |
| Biochemistry, Genetics and Molecular Biology | 19 | 19% |
| Agricultural and Biological Sciences | 18 | 18% |
| Social Sciences | 3 | 3% |
| Psychology | 2 | 2% |
| Other | 5 | 5% |
| Unknown | 21 | 21% |
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 07 March 2017.
All research outputs
#5,739,122
of 22,794,367 outputs
Outputs from Pediatric Nephrology
#971
of 3,537 outputs
Outputs of similar age
#40,267
of 164,767 outputs
Outputs of similar age from Pediatric Nephrology
#3
of 16 outputs
Altmetric has tracked 22,794,367 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 3,537 research outputs from this source. They receive a mean Attention Score of 4.9. 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 164,767 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 75% of its contemporaries.
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 done well, scoring higher than 81% of its contemporaries.