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A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

Overview of attention for article published in Nature Genetics, June 2006
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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 (92nd percentile)
  • Good Attention Score compared to outputs of the same age and source (75th percentile)

Citations

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Title
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia
Published in
Nature Genetics, June 2006
DOI 10.1038/ng1809
Pubmed ID
Authors

Anelia Horvath, Sosipatros Boikos, Christoforos Giatzakis, Audrey Robinson-White, Lionel Groussin, Kurt J Griffin, Erica Stein, Elizabeth Levine, Georgia Delimpasi, Hui Pin Hsiao, Meg Keil, Sarah Heyerdahl, Ludmila Matyakhina, Rossella Libè, Amato Fratticci, Lawrence S Kirschner, Kevin Cramer, Rolf C Gaillard, Xavier Bertagna, J Aidan Carney, Jérôme Bertherat, Ioannis Bossis, Constantine A Stratakis

Abstract

Phosphodiesterases (PDEs) regulate cyclic nucleotide levels. Increased cyclic AMP (cAMP) signaling has been associated with PRKAR1A or GNAS mutations and leads to adrenocortical tumors and Cushing syndrome. We investigated the genetic source of Cushing syndrome in individuals with adrenocortical hyperplasia that was not caused by known defects. We performed genome-wide SNP genotyping, including the adrenocortical tumor DNA. The region with the highest probability to harbor a susceptibility gene by loss of heterozygosity (LOH) and other analyses was 2q31-2q35. We identified mutations disrupting the expression of the PDE11A isoform-4 gene (PDE11A) in three kindreds. Tumor tissues showed 2q31-2q35 LOH, decreased protein expression and high cyclic nucleotide levels and cAMP-responsive element binding protein (CREB) phosphorylation. PDE11A codes for a dual-specificity PDE that is expressed in adrenal cortex and is partially inhibited by tadalafil and other PDE inhibitors; its germline inactivation is associated with adrenocortical hyperplasia, suggesting another means by which dysregulation of cAMP signaling causes endocrine tumors.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 77 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 3 4%
United States 2 3%
Unknown 72 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 15 19%
Student > Bachelor 10 13%
Student > Ph. D. Student 9 12%
Professor > Associate Professor 8 10%
Professor 5 6%
Other 19 25%
Unknown 11 14%
Readers by discipline Count As %
Medicine and Dentistry 30 39%
Agricultural and Biological Sciences 16 21%
Biochemistry, Genetics and Molecular Biology 12 16%
Mathematics 1 1%
Pharmacology, Toxicology and Pharmaceutical Science 1 1%
Other 3 4%
Unknown 14 18%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 13. 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 January 2023.
All research outputs
#2,489,323
of 24,220,739 outputs
Outputs from Nature Genetics
#2,958
of 7,380 outputs
Outputs of similar age
#4,585
of 66,241 outputs
Outputs of similar age from Nature Genetics
#15
of 57 outputs
Altmetric has tracked 24,220,739 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,380 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 42.5. This one has gotten more attention than average, scoring higher than 59% 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 66,241 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 92% of its contemporaries.
We're also able to compare this research output to 57 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.