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Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

Overview of attention for article published in Therapeutics and Clinical Risk Management, June 2017
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Mentioned by

twitter
4 tweeters
reddit
1 Redditor

Citations

dimensions_citation
7 Dimensions

Readers on

mendeley
21 Mendeley

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Summary Twitter Reddit Dimensions citations
Title
Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations
Published in
Therapeutics and Clinical Risk Management, June 2017
DOI 10.2147/tcrm.s119967
Pubmed ID
28670130
Authors

Masoumeh Dehghan Manshadi, Behnam Kamalidehghan, Omid Aryani, Elham Khalili, Sepideh Dadgar, Mahdi Tondar, Fatemeh Ahmadipour, Goh Yong Meng, Massoud Houshmand

Abstract

Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the ARSA gene in 12 non-consanguineous MLD patients and 40 healthy individuals was examined using polymerase chain reaction sequencing. Furthermore, the structural and functional effects of new mutations on ARSA were analyzed using SIFT (sorting intolerant from tolerant), I-Mutant 2, and PolyPhen bioinformatics software. Here, 4 new pathogenic homozygous mutations c.585G>T, c.661T>A, c.849C>G, and c.911A>G were detected. The consequence of this study has extended the genotypic spectrum of MLD patients, paving way to a more effective method for carrier detection and genetic counseling.

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Twitter Demographics

The data shown below were collected from the profiles of 4 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 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 21 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 19%
Student > Bachelor 4 19%
Student > Master 3 14%
Other 2 10%
Student > Doctoral Student 1 5%
Other 1 5%
Unknown 6 29%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 19%
Medicine and Dentistry 4 19%
Nursing and Health Professions 2 10%
Agricultural and Biological Sciences 1 5%
Mathematics 1 5%
Other 2 10%
Unknown 7 33%

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 04 July 2017.
All research outputs
#8,401,786
of 14,571,953 outputs
Outputs from Therapeutics and Clinical Risk Management
#519
of 1,016 outputs
Outputs of similar age
#131,783
of 266,928 outputs
Outputs of similar age from Therapeutics and Clinical Risk Management
#8
of 15 outputs
Altmetric has tracked 14,571,953 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,016 research outputs from this source. They receive a mean Attention Score of 4.7. This one is in the 43rd percentile – i.e., 43% 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 266,928 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 15 others from the same source and published within six weeks on either side of this one. This one is in the 46th percentile – i.e., 46% of its contemporaries scored the same or lower than it.

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