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ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia

Overview of attention for article published in Cerebellum & Ataxias, January 2016
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  • Among the highest-scoring outputs from this source (#43 of 103)
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Title
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia
Published in
Cerebellum & Ataxias, January 2016
DOI 10.1186/s40673-016-0040-8
Pubmed ID
Authors

M. I. Shadrina, M. V. Shulskaya, S. A. Klyushnikov, T. Nikopensius, M. Nelis, P. A. Kivistik, A. A. Komar, S. A. Limborska, S. N. Illarioshkin, P. A. Slominsky

Abstract

Spinocerebellar ataxias (SСAs) are a highly heterogeneous group of inherited neurological disorders. The symptoms of ataxia vary in individual patients and even within the same SCA subtype. A study of a four-generation family with autosomal dominant (AD) non-progressive SCA with mild symptoms was conducted. The genotyping of this family revealed no frequent pathogenic mutations. So the objective of this study was to identify the genetic causes of the disease in this family with the technology of whole-exome sequencing (WES). WES, candidate variant analysis with further Sanger sequencing, mRNA secondary structure prediction, and RSCU analysis were performed; a heterozygous missense mutation in ITPR1 was identified. Our study confirms the fact that ITPR1 gene plays a certain role in the pathogenesis of SCAs, and, therefore, we suggest that c.4657G>A p.Val1553Met) is a disease-causing mutation in the family studied.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 4 22%
Researcher 4 22%
Student > Bachelor 3 17%
Student > Ph. D. Student 3 17%
Other 1 6%
Other 3 17%
Readers by discipline Count As %
Medicine and Dentistry 4 22%
Agricultural and Biological Sciences 3 17%
Neuroscience 3 17%
Biochemistry, Genetics and Molecular Biology 2 11%
Nursing and Health Professions 2 11%
Other 2 11%
Unknown 2 11%
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 18 January 2016.
All research outputs
#13,961,912
of 22,837,982 outputs
Outputs from Cerebellum & Ataxias
#43
of 103 outputs
Outputs of similar age
#200,458
of 395,522 outputs
Outputs of similar age from Cerebellum & Ataxias
#4
of 8 outputs
Altmetric has tracked 22,837,982 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 103 research outputs from this source. They receive a mean Attention Score of 3.1. This one has gotten more attention than average, scoring higher than 57% 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 395,522 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 4 of them.