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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Overview of attention for article published in Nature Genetics, April 2013
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (77th percentile)

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2 X users
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1 Facebook page
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1 Wikipedia page
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1 research highlight platform

Citations

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409 Dimensions

Readers on

mendeley
324 Mendeley
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4 CiteULike
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Title
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Published in
Nature Genetics, April 2013
DOI 10.1038/ng.2613
Pubmed ID
Authors

Karine Poirier, Nicolas Lebrun, Loic Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stephanie Valence, Benjamin Saint Pierre, Madison Oger, Didier Lacombe, David Geneviève, Elena Fontana, Franscesca Darra, Claude Cances, Magalie Barth, Dominique Bonneau, Bernardo Dalla Bernadina, Sylvie N'Guyen, Cyril Gitiaux, Philippe Parent, Vincent des Portes, Jean Michel Pedespan, Victoire Legrez, Laetitia Castelnau-Ptakine, Patrick Nitschke, Thierry Hieu, Cecile Masson, Diana Zelenika, Annie Andrieux, Fiona Francis, Renzo Guerrini, Nicholas J Cowan, Nadia Bahi-Buisson, Jamel Chelly

Abstract

The genetic causes of malformations of cortical development (MCD) remain largely unknown. Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD. We found a frequent recurrence of mutations in DYNC1H1, implying that this gene is a major locus for unexplained MCD. We further show that the mutations in KIF5C, KIF2A and DYNC1H1 affect ATP hydrolysis, productive protein folding and microtubule binding, respectively. In addition, we show that suppression of mouse Tubg1 expression in vivo interferes with proper neuronal migration, whereas expression of altered γ-tubulin proteins in Saccharomyces cerevisiae disrupts normal microtubule behavior. Our data reinforce the importance of centrosomal and microtubule-related proteins in cortical development and strongly suggest that microtubule-dependent mitotic and postmitotic processes are major contributors to the pathogenesis of MCD.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 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 324 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
France 3 <1%
United Kingdom 3 <1%
Portugal 1 <1%
Canada 1 <1%
Argentina 1 <1%
United States 1 <1%
Unknown 314 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 73 23%
Researcher 66 20%
Student > Bachelor 36 11%
Student > Master 35 11%
Student > Doctoral Student 14 4%
Other 48 15%
Unknown 52 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 101 31%
Biochemistry, Genetics and Molecular Biology 64 20%
Neuroscience 40 12%
Medicine and Dentistry 37 11%
Chemistry 8 2%
Other 16 5%
Unknown 58 18%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 28 April 2019.
All research outputs
#5,427,588
of 22,708,120 outputs
Outputs from Nature Genetics
#4,863
of 7,176 outputs
Outputs of similar age
#44,830
of 197,149 outputs
Outputs of similar age from Nature Genetics
#57
of 70 outputs
Altmetric has tracked 22,708,120 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,176 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.0. This one is in the 32nd percentile – i.e., 32% 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 197,149 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 77% of its contemporaries.
We're also able to compare this research output to 70 others from the same source and published within six weeks on either side of this one. This one is in the 18th percentile – i.e., 18% of its contemporaries scored the same or lower than it.