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Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

Overview of attention for article published in Case Reports in Genetics, February 2018
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Title
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
Published in
Case Reports in Genetics, February 2018
DOI 10.1155/2018/6968395
Pubmed ID
Authors

Antoneicka L. Harris, Patrick R. Blackburn, John E. Richter, Jennifer M. Gass, Thomas R. Caulfield, Ahmed N. Mohammad, Paldeep S. Atwal

Abstract

Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating. In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives following hospitalization due to hive-induced anaphylaxis. The individual had a history significant for urticaria and angioedema beginning in his early 30s. Interestingly, both the individual's 41-year-old sister and 12-year-old daughter were also affected with chronic urticaria and severe angioedema. Whole exome sequencing of the proband and several family members revealed a heterozygous variant of uncertain significance in exon 2 of TNFAIP3, denoted as c.65G>A (p.R22Q), in all affected members. Variants in TNFAIP3 have been associated with multiple autoimmune diseases, susceptibility to allergy and asthma, and periodic fever syndromes, suggesting that this variant could potentially play a role in disease.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 13 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 31%
Student > Bachelor 2 15%
Student > Doctoral Student 1 8%
Student > Master 1 8%
Student > Ph. D. Student 1 8%
Other 0 0%
Unknown 4 31%
Readers by discipline Count As %
Medicine and Dentistry 3 23%
Biochemistry, Genetics and Molecular Biology 2 15%
Chemistry 2 15%
Neuroscience 1 8%
Immunology and Microbiology 1 8%
Other 0 0%
Unknown 4 31%
Attention Score in Context

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 24 April 2018.
All research outputs
#19,951,180
of 25,382,440 outputs
Outputs from Case Reports in Genetics
#55
of 93 outputs
Outputs of similar age
#253,158
of 344,220 outputs
Outputs of similar age from Case Reports in Genetics
#1
of 1 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 93 research outputs from this source. They receive a mean Attention Score of 1.9. This one is in the 35th percentile – i.e., 35% of its peers scored the same or lower than it.
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