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Ciliopathies: an expanding disease spectrum

Overview of attention for article published in Pediatric Nephrology, July 2011
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#8 of 3,891)
  • High Attention Score compared to outputs of the same age (98th percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

Mentioned by

news
8 news outlets
blogs
5 blogs
twitter
6 X users
patent
6 patents
facebook
1 Facebook page
wikipedia
4 Wikipedia pages
googleplus
2 Google+ users

Citations

dimensions_citation
580 Dimensions

Readers on

mendeley
587 Mendeley
citeulike
2 CiteULike
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Title
Ciliopathies: an expanding disease spectrum
Published in
Pediatric Nephrology, July 2011
DOI 10.1007/s00467-010-1731-7
Pubmed ID
Authors

Aoife M. Waters, Philip L. Beales

Abstract

Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal disease and cerebral anomalies. Additional manifestations include congenital fibrocystic diseases of the liver, diabetes, obesity and skeletal dysplasias. Ciliopathic features have been associated with mutations in over 40 genes to date. However, with over 1,000 polypeptides currently identified within the ciliary proteome, several other disorders associated with this constellation of clinical features will likely be ascribed to mutations in other ciliary genes. The mechanisms underlying many of the disease phenotypes associated with ciliary dysfunction have yet to be fully elucidated. Several elegant studies have crucially demonstrated the dynamic ciliary localisation of components of the Hedgehog and Wnt signalling pathways during signal transduction. Given the critical role of the cilium in transducing "outside-in" signals, it is not surprising therefore, that the disease phenotypes consequent to ciliary dysfunction are a manifestation of aberrant signal transduction. Further investigation is now needed to explore the developmental and physiological roles of aberrant signal transduction in the manifestation of ciliopathy phenotypes. Utilisation of conditional and inducible murine models to delete or overexpress individual ciliary genes in a spatiotemporal and organ/cell-specific manner should help clarify some of the functional roles of ciliary proteins in the manifestation of phenotypic features.

X Demographics

X Demographics

The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 587 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 6 1%
India 2 <1%
United Kingdom 2 <1%
Italy 1 <1%
Portugal 1 <1%
Germany 1 <1%
Netherlands 1 <1%
Unknown 573 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 128 22%
Student > Bachelor 103 18%
Researcher 76 13%
Student > Master 62 11%
Student > Doctoral Student 25 4%
Other 75 13%
Unknown 118 20%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 162 28%
Agricultural and Biological Sciences 150 26%
Medicine and Dentistry 74 13%
Neuroscience 29 5%
Engineering 18 3%
Other 32 5%
Unknown 122 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 99. 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 25 September 2023.
All research outputs
#404,923
of 24,495,755 outputs
Outputs from Pediatric Nephrology
#8
of 3,891 outputs
Outputs of similar age
#1,397
of 119,606 outputs
Outputs of similar age from Pediatric Nephrology
#2
of 26 outputs
Altmetric has tracked 24,495,755 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,891 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.1. This one has done particularly well, scoring higher than 99% 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 119,606 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 98% of its contemporaries.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 96% of its contemporaries.