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Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

Overview of attention for article published in American Journal of Human Genetics, May 2013
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (94th percentile)
  • High Attention Score compared to outputs of the same age and source (84th percentile)

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1 news outlet
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21 X users
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2 patents

Citations

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168 Dimensions

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79 Mendeley
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Title
Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
Published in
American Journal of Human Genetics, May 2013
DOI 10.1016/j.ajhg.2013.04.024
Pubmed ID
Authors

John A. Martignetti, Lifeng Tian, Dong Li, Maria Celeste M. Ramirez, Olga Camacho-Vanegas, Sandra Catalina Camacho, Yiran Guo, Dina J. Zand, Audrey M. Bernstein, Sandra K. Masur, Cecilia E. Kim, Frederick G. Otieno, Cuiping Hou, Nada Abdel-Magid, Ben Tweddale, Denise Metry, Jean-Christophe Fournet, Eniko Papp, Elizabeth W. McPherson, Carrie Zabel, Guy Vaksmann, Cyril Morisot, Brendan Keating, Patrick M. Sleiman, Jeffrey A. Cleveland, David B. Everman, Elaine Zackai, Hakon Hakonarson

Abstract

Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder. In eight of the families, we identified one of two disease-causing mutations, c.1978C>A (p.Pro660Thr) and c.1681C>T (p.Arg561Cys), in PDGFRB. Intriguingly, one family did not have either of these PDGFRB mutations but all affected individuals had a c.4556T>C (p.Leu1519Pro) mutation in NOTCH3. Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.

X Demographics

X Demographics

The data shown below were collected from the profiles of 21 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 79 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 1%
Sweden 1 1%
Unknown 77 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 17 22%
Other 12 15%
Student > Master 9 11%
Student > Ph. D. Student 8 10%
Student > Bachelor 5 6%
Other 15 19%
Unknown 13 16%
Readers by discipline Count As %
Medicine and Dentistry 31 39%
Biochemistry, Genetics and Molecular Biology 13 16%
Agricultural and Biological Sciences 11 14%
Chemistry 2 3%
Neuroscience 2 3%
Other 5 6%
Unknown 15 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 28. 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 18 December 2018.
All research outputs
#1,372,089
of 25,374,917 outputs
Outputs from American Journal of Human Genetics
#730
of 5,879 outputs
Outputs of similar age
#11,043
of 208,166 outputs
Outputs of similar age from American Journal of Human Genetics
#10
of 63 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,879 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.3. This one has done well, scoring higher than 87% of its peers.
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 208,166 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 94% of its contemporaries.
We're also able to compare this research output to 63 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 84% of its contemporaries.