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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Overview of attention for article published in American Journal of Human Genetics, January 2016
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (97th percentile)
  • High Attention Score compared to outputs of the same age and source (94th percentile)

Mentioned by

news
7 news outlets
blogs
2 blogs
twitter
26 X users
facebook
2 Facebook pages
wikipedia
1 Wikipedia page

Citations

dimensions_citation
36 Dimensions

Readers on

mendeley
65 Mendeley
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Title
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
Published in
American Journal of Human Genetics, January 2016
DOI 10.1016/j.ajhg.2015.12.014
Pubmed ID
Authors

Paul R. Kasher, Katherine E. Schertz, Megan Thomas, Adam Jackson, Silvia Annunziata, María J. Ballesta-Martinez, Philippe M. Campeau, Peter E. Clayton, Jennifer L. Eaton, Tiziana Granata, Encarna Guillén-Navarro, Cristina Hernando, Caroline E. Laverriere, Agne Liedén, Olaya Villa-Marcos, Meriel McEntagart, Ann Nordgren, Chiara Pantaleoni, Céline Pebrel-Richard, Catherine Sarret, Francesca L. Sciacca, Ronnie Wright, Bronwyn Kerr, Eric Glasgow, Siddharth Banka

Abstract

Genetic studies of intellectual disability and identification of monogenic causes of obesity in humans have made immense contribution toward the understanding of the brain and control of body mass. The leptin > melanocortin > SIM1 pathway is dysregulated in multiple monogenic human obesity syndromes but its downstream targets are still unknown. In ten individuals from six families, with overlapping 6q16.1 deletions, we describe a disorder of variable developmental delay, intellectual disability, and susceptibility to obesity and hyperphagia. The 6q16.1 deletions segregated with the phenotype in multiplex families and were shown to be de novo in four families, and there was dramatic phenotypic overlap among affected individuals who were independently ascertained without bias from clinical features. Analysis of the deletions revealed a ∼350 kb critical region on chromosome 6q16.1 that encompasses a gene for proneuronal transcription factor POU3F2, which is important for hypothalamic development and function. Using morpholino and mutant zebrafish models, we show that POU3F2 lies downstream of SIM1 and controls oxytocin expression in the hypothalamic neuroendocrine preoptic area. We show that this finding is consistent with the expression patterns of POU3F2 and related genes in the human brain. Our work helps to further delineate the neuro-endocrine control of energy balance/body mass and demonstrates that this molecular pathway is conserved across multiple species.

X Demographics

X Demographics

The data shown below were collected from the profiles of 26 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 65 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 65 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 13 20%
Student > Master 11 17%
Student > Bachelor 9 14%
Researcher 3 5%
Other 3 5%
Other 10 15%
Unknown 16 25%
Readers by discipline Count As %
Medicine and Dentistry 16 25%
Biochemistry, Genetics and Molecular Biology 8 12%
Agricultural and Biological Sciences 8 12%
Nursing and Health Professions 3 5%
Sports and Recreations 3 5%
Other 7 11%
Unknown 20 31%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 85. 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 13 July 2019.
All research outputs
#502,992
of 25,373,627 outputs
Outputs from American Journal of Human Genetics
#214
of 5,878 outputs
Outputs of similar age
#9,159
of 405,483 outputs
Outputs of similar age from American Journal of Human Genetics
#3
of 55 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,878 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 particularly well, scoring higher than 96% 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 405,483 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 97% of its contemporaries.
We're also able to compare this research output to 55 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 94% of its contemporaries.