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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Overview of attention for article published in Orphanet Journal of Rare Diseases, September 2013
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Title
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Published in
Orphanet Journal of Rare Diseases, September 2013
DOI 10.1186/1750-1172-8-154
Pubmed ID
Authors

Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hulya Kayserili, Paul J Coucke

Abstract

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous brittle bone disorder. Whereas dominant OI is mostly due to heterozygous mutations in either COL1A1 or COL1A2, encoding type I procollagen, recessive OI is caused by biallelic mutations in genes encoding proteins involved in type I procollagen processing or chaperoning. Hitherto, some OI cases remain molecularly unexplained. We detected a homozygous genomic deletion of CREB3L1 in a family with severe OI. CREB3L1 encodes OASIS, an endoplasmic reticulum-stress transducer that regulates type I procollagen expression during murine bone formation. This is the first report linking CREB3L1 to human recessive OI, thereby expanding the OI gene spectrum.

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 78 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 78 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 15 19%
Student > Ph. D. Student 11 14%
Student > Bachelor 10 13%
Professor > Associate Professor 9 12%
Other 8 10%
Other 16 21%
Unknown 9 12%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 27 35%
Medicine and Dentistry 18 23%
Agricultural and Biological Sciences 13 17%
Nursing and Health Professions 1 1%
Chemical Engineering 1 1%
Other 5 6%
Unknown 13 17%

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 10 October 2013.
All research outputs
#15,055,021
of 18,796,975 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,644
of 2,004 outputs
Outputs of similar age
#131,847
of 182,452 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#17
of 18 outputs
Altmetric has tracked 18,796,975 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,004 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 8th percentile – i.e., 8% 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 182,452 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 18 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.