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Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract

Overview of attention for article published in Experimental and Molecular Medicine, April 2018
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3 tweeters

Citations

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14 Dimensions

Readers on

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14 Mendeley
Title
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract
Published in
Experimental and Molecular Medicine, April 2018
DOI 10.1038/s12276-018-0079-0
Pubmed ID
Authors

Xiu-Feng Huang, Lue Xiang, Wan Cheng, Fei-Fei Cheng, Kai-Wen He, Bo-Wen Zhang, Si-Si Zheng, Ru-Yi Han, Yi-Han Zheng, Xiao-Tao Xu, Huan-Yun Yu, Wenjuan Zhuang, Yuk Fai Leung, Zi-Bing Jin

Abstract

Ocular coloboma is a developmental structural defect of the eye that often occurs as complex ocular anomalies. However, its genetic etiology remains largely unexplored. Here we report the identification of mutation (c.331C>T, p.R111C) in the IPO13 gene in a consanguineous family with ocular coloboma, microphthalmia, and cataract by a combination of whole-exome sequencing and homozygosity mapping. IPO13 encodes an importin-B family protein and has been proven to be associated with the pathogenesis of coloboma and microphthalmia. We found that Ipo13 was expressed in the cornea, sclera, lens, and retina in mice. Additionally, the mRNA expression level of Ipo13 decreased significantly in the patient compared with its expression in a healthy individual. Morpholino-oligonucleotide-induced knockdown of ipo13 in zebrafish caused dose-dependent microphthalmia and coloboma, which is highly similar to the ocular phenotypes in the patient. Moreover, both visual motor response and optokinetic response were impaired severely. Notably, these ocular phenotypes in ipo13-deficient zebrafish could be rescued remarkably by full-length ipo13 mRNA, suggesting that the phenotypes observed in zebrafish were due to insufficient ipo13 function. Altogether, our findings demonstrate, for the first time, a new role of IPO13 in eye morphogenesis and that loss of function of IPO13 could lead to ocular coloboma, microphthalmia, and cataract in humans and zebrafish.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters 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 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Student > Doctoral Student 2 14%
Student > Bachelor 2 14%
Student > Ph. D. Student 2 14%
Professor 1 7%
Student > Postgraduate 1 7%
Other 0 0%
Unknown 6 43%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 29%
Medicine and Dentistry 3 21%
Nursing and Health Professions 1 7%
Unknown 6 43%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 20 September 2018.
All research outputs
#10,200,043
of 17,088,208 outputs
Outputs from Experimental and Molecular Medicine
#554
of 991 outputs
Outputs of similar age
#150,952
of 285,111 outputs
Outputs of similar age from Experimental and Molecular Medicine
#22
of 58 outputs
Altmetric has tracked 17,088,208 research outputs across all sources so far. This one is in the 38th percentile – i.e., 38% of other outputs scored the same or lower than it.
So far Altmetric has tracked 991 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 41st percentile – i.e., 41% of its peers scored the same or lower than it.
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 285,111 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 58 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 55% of its contemporaries.