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Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Overview of attention for article published in Orphanet Journal of Rare Diseases, February 2014
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Title
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
Published in
Orphanet Journal of Rare Diseases, February 2014
DOI 10.1186/1750-1172-9-26
Pubmed ID
Authors

Hannah Verdin, Elena A Sorokina, Françoise Meire, Ingele Casteels, Thomy de Ravel, Elena V Semina, Elfride De Baere

Abstract

Congenital cataracts are clinically and genetically heterogeneous with more than 45 known loci and 38 identified genes. They can occur as isolated defects or in association with anterior segment developmental anomalies. One of the disease genes for congenital cataract with or without anterior segment dysgenesis (ASD) is PITX3, encoding a transcription factor with a crucial role in lens and anterior segment development. Only five unique PITX3 mutations have been described, of which the 17-bp duplication c.640_656dup, p.(Gly220Profs*95), is the most common one and the only one known to cause cataract with ASD. The aim of this study was to perform a genetic study of the PITX3 gene in five probands with autosomal dominant congenital cataract (ADCC) and ASD, to compare their clinical presentations to previously reported PITX3-associated phenotypes and to functionally evaluate the PITX3 mutations found.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 8%
Unknown 23 92%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 32%
Other 3 12%
Student > Master 3 12%
Student > Ph. D. Student 3 12%
Professor 2 8%
Other 3 12%
Unknown 3 12%
Readers by discipline Count As %
Medicine and Dentistry 8 32%
Biochemistry, Genetics and Molecular Biology 7 28%
Agricultural and Biological Sciences 3 12%
Psychology 2 8%
Nursing and Health Professions 1 4%
Other 1 4%
Unknown 3 12%

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 21 February 2014.
All research outputs
#14,487,700
of 18,796,975 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,542
of 2,004 outputs
Outputs of similar age
#132,230
of 196,960 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#10
of 14 outputs
Altmetric has tracked 18,796,975 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% 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 18th percentile – i.e., 18% 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 196,960 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 29th percentile – i.e., 29% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.