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Causes and consequences of inherited cone disorders

Overview of attention for article published in Progress in Retinal & Eye Research, September 2014
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Citations

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102 Mendeley
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Title
Causes and consequences of inherited cone disorders
Published in
Progress in Retinal & Eye Research, September 2014
DOI 10.1016/j.preteyeres.2014.05.001
Pubmed ID
Authors

Susanne Roosing, Alberta A.H.J. Thiadens, Carel B. Hoyng, Caroline C.W. Klaver, Anneke I. den Hollander, Frans P.M. Cremers

Abstract

Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone dystrophy (COD), cone-rod dystrophy (CRD), color vision impairment, Stargardt disease (STGD) and other maculopathies. Forty-two genes have been implicated in non-syndromic inherited CDs. Mutations in the 5 genes implicated in ACHM explain ∼93% of the cases. On the contrary, only 21% of CRDs (17 genes) and 25% of CODs (8 genes) have been elucidated. The fact that the large majority of COD and CRD-associated genes are yet to be discovered hints towards the existence of unknown cone-specific or cone-sensitive processes. The ACHM-associated genes encode proteins that fulfill crucial roles in the cone phototransduction cascade, which is the most frequently compromised (10 genes) process in CDs. Another 7 CD-associated proteins are required for transport processes towards or through the connecting cilium. The remaining CD-associated proteins are involved in cell membrane morphogenesis and maintenance, synaptic transduction, and the retinoid cycle. Further novel genes are likely to be identified in the near future by combining large-scale DNA sequencing and transcriptomics technologies. For 31 of 42 CD-associated genes, mammalian models are available, 14 of which have successfully been used for gene augmentation studies. However, gene augmentation for CDs should ideally be developed in large mammalian models with cone-rich areas, which are currently available for only 11 CD genes. Future research will aim to elucidate the remaining causative genes, identify the molecular mechanisms of CD, and develop novel therapies aimed at preventing vision loss in individuals with CD in the future.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 102 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 1 <1%
United States 1 <1%
Netherlands 1 <1%
France 1 <1%
Unknown 98 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 21 21%
Researcher 18 18%
Student > Master 11 11%
Student > Bachelor 10 10%
Professor 8 8%
Other 23 23%
Unknown 11 11%
Readers by discipline Count As %
Medicine and Dentistry 30 29%
Agricultural and Biological Sciences 26 25%
Biochemistry, Genetics and Molecular Biology 13 13%
Neuroscience 4 4%
Business, Management and Accounting 2 2%
Other 9 9%
Unknown 18 18%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 02 October 2014.
All research outputs
#10,348,368
of 13,559,870 outputs
Outputs from Progress in Retinal & Eye Research
#333
of 416 outputs
Outputs of similar age
#117,201
of 187,949 outputs
Outputs of similar age from Progress in Retinal & Eye Research
#7
of 10 outputs
Altmetric has tracked 13,559,870 research outputs across all sources so far. This one is in the 20th percentile – i.e., 20% of other outputs scored the same or lower than it.
So far Altmetric has tracked 416 research outputs from this source. They receive a mean Attention Score of 5.0. This one is in the 16th percentile – i.e., 16% of its peers scored the same or lower than it.
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