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Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

Overview of attention for article published in Hormone Research in Paediatrics, April 2017
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Title
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
Published in
Hormone Research in Paediatrics, April 2017
DOI 10.1159/000464143
Pubmed ID
Authors

Paula Ocaranza, Marjorie C. Golekoh, Shayne F. Andrew, Michael H. Guo, Paul Kaplowitz, Howard Saal, Ron G. Rosenfeld, Andrew Dauber, Fernando Cassorla, Philippe F. Backeljauw, Vivian Hwa

Abstract

The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal growth restriction or overgrowth. Whole exome sequence (WES), chromosomal microarray, and targeted IGF1R gene analyses were performed on 3 unrelated children who share features of small for gestational age, short stature, and elevated serum IGF-I, but otherwise had clinical heterogeneity. Fluorescence-activated cell sorting (FACS) analysis of cell-surface IGF1R was performed on live primary cells derived from the patients. Two novel IGF1R CNV and a heterozygous IGF1R nonsense variant were identified in the 3 patients. One CNV (4.492 Mb) was successfully called from WES, utilizing eXome-Hidden Markov Model (XHMM) analysis. FACS analysis of cell-surface IGF1R on live primary cells derived from the patients demonstrated a ∼50% reduction in IGF1R availability associated with the haploinsufficiency state. In addition to conventional methods, IGF1R CNV can be identified from WES data. FACS analysis of live primary cells is a promising method for efficiently evaluating and screening for IGF1R haploinsufficiency. Further investigations are necessary to delineate how comparable IGF1R availability leads to the wide spectrum of clinical phenotypes and variable responsiveness to rhGH therapy.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 27 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 4 15%
Researcher 4 15%
Other 3 11%
Student > Doctoral Student 3 11%
Student > Bachelor 3 11%
Other 5 19%
Unknown 5 19%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 19%
Medicine and Dentistry 4 15%
Nursing and Health Professions 4 15%
Agricultural and Biological Sciences 2 7%
Computer Science 1 4%
Other 5 19%
Unknown 6 22%
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 11 April 2017.
All research outputs
#18,541,268
of 22,963,381 outputs
Outputs from Hormone Research in Paediatrics
#687
of 880 outputs
Outputs of similar age
#235,850
of 310,129 outputs
Outputs of similar age from Hormone Research in Paediatrics
#17
of 20 outputs
Altmetric has tracked 22,963,381 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 880 research outputs from this source. They receive a mean Attention Score of 5.0. This one is in the 13th percentile – i.e., 13% of its peers scored the same or lower than it.
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We're also able to compare this research output to 20 others from the same source and published within six weeks on either side of this one. This one is in the 10th percentile – i.e., 10% of its contemporaries scored the same or lower than it.