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Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2017
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2 X users

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Title
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome
Published in
Orphanet Journal of Rare Diseases, November 2017
DOI 10.1186/s13023-017-0723-0
Pubmed ID
Authors

Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni, Valentina Massa

Abstract

Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is disrupted in CdLS animal models and patients cells. In this review we investigate the possible link between Wnt pathway disruption and brain abnormalities in Cornelia de Lange Syndrome as such molecular impairment could lead to an abnormal embryonic development resulting in brain abnormalities (i.e. microcephaly, cerebellar hypoplasia, abnormal cortical development) in patients with Cornelia de Lange Syndrome.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 24%
Student > Bachelor 4 16%
Researcher 3 12%
Other 2 8%
Student > Master 2 8%
Other 2 8%
Unknown 6 24%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 36%
Neuroscience 4 16%
Medicine and Dentistry 3 12%
Economics, Econometrics and Finance 1 4%
Agricultural and Biological Sciences 1 4%
Other 2 8%
Unknown 5 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 29 November 2017.
All research outputs
#14,368,528
of 23,008,860 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,592
of 2,640 outputs
Outputs of similar age
#235,960
of 437,733 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#16
of 24 outputs
Altmetric has tracked 23,008,860 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,640 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 35th percentile – i.e., 35% of its peers scored the same or lower than it.
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 437,733 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.