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Post‐zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia

Overview of attention for article published in Clinical and Translational Medicine, November 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#23 of 243)
  • High Attention Score compared to outputs of the same age (89th percentile)

Mentioned by

news
1 news outlet
blogs
1 blog
twitter
2 tweeters

Citations

dimensions_citation
9 Dimensions

Readers on

mendeley
36 Mendeley
Title
Post‐zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia
Published in
Clinical and Translational Medicine, November 2017
DOI 10.1186/s40169-017-0174-1
Pubmed ID
Authors

C. A. Castellani, M. G. Melka, J. L. Gui, A. J. Gallo, R. L. O’Reilly, S. M. Singh

Abstract

Monozygotic twins are valuable in assessing the genetic vs environmental contribution to diseases. In the era of complete genome sequences, they allow identification of mutational mechanisms and specific genes and pathways that offer predisposition to the development of complex diseases including schizophrenia. We sequenced the complete genomes of two pairs of monozygotic twins discordant for schizophrenia (MZD), including one representing a family tetrad. The family specific complete sequences have allowed identification of post zygotic mutations between MZD genomes. It allows identification of affected genes including relevant network and pathways that may account for the diseased state in pair specific patient. We found multiple twin specific sequence differences between co-twins that included small nucleotides [single nucleotide variants (SNV), small indels and block substitutions], copy number variations (CNVs) and structural variations. The genes affected by these changes belonged to a number of canonical pathways, the most prominent ones are implicated in schizophrenia and related disorders. Although these changes were found in both twins, they were more frequent in the affected twin in both pairs. Two specific pathway defects, glutamate receptor signaling and dopamine feedback in cAMP signaling pathways, were uniquely affected in the two patients representing two unrelated families. We have identified genome-wide post zygotic mutations in two MZD pairs affected with schizophrenia. It has allowed us to use the threshold model and propose the most likely cause of this disease in the two patients studied. The results support the proposition that each schizophrenia patient may be unique and heterogeneous somatic de novo events may contribute to schizophrenia threshold and discordance of the disease in monozygotic twins.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 36 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 36 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 10 28%
Researcher 6 17%
Student > Ph. D. Student 5 14%
Student > Doctoral Student 3 8%
Professor > Associate Professor 3 8%
Other 5 14%
Unknown 4 11%
Readers by discipline Count As %
Medicine and Dentistry 8 22%
Biochemistry, Genetics and Molecular Biology 7 19%
Agricultural and Biological Sciences 5 14%
Neuroscience 5 14%
Engineering 2 6%
Other 3 8%
Unknown 6 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 17. 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 30 January 2018.
All research outputs
#1,144,118
of 15,414,857 outputs
Outputs from Clinical and Translational Medicine
#23
of 243 outputs
Outputs of similar age
#39,970
of 365,701 outputs
Outputs of similar age from Clinical and Translational Medicine
#1
of 1 outputs
Altmetric has tracked 15,414,857 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 243 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.9. This one has done particularly well, scoring higher than 90% 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 365,701 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them