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How polymorphic markers contribute to genetic diseases in different populations? The study of inhibin A for premature ovarian insufficiency

Overview of attention for article published in Einstein (São Paulo), September 2017
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  • Above-average Attention Score compared to outputs of the same age and source (62nd percentile)

Mentioned by

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2 tweeters

Citations

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3 Dimensions

Readers on

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14 Mendeley
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Title
How polymorphic markers contribute to genetic diseases in different populations? The study of inhibin A for premature ovarian insufficiency
Published in
Einstein (São Paulo), September 2017
DOI 10.1590/s1679-45082017ao4052
Pubmed ID
Authors

Denise Maria Christofolini, Emerson Barchi Cordts, Fernando Santos-Pinheiro, Erika Azuma Kayaki, Mayla Cristina Fernandes Dornas, Monise de Castro Santos, Bianca Bianco, Caio Parente Barbosa

Abstract

To verify the incidence of the G679A mutation in exon 2 of the gene inhibin alpha (INHA), in women with secondary amenorrhea and diagnosis of premature ovarian insufficiency, and in controls. A 5mL sample of peripheral blood was collected from all study participants in an EDTA tube and was used for DNA extraction. For the patient group, 5mL of blood were also collected in a tube containing heparin for karyotype, and 5mL were collected in a dry tube for follicle stimulant hormone dosage. All patient and control samples were initially submitted to analysis of the G679A variant in exon 2 of the INHA gene by PCR-RFLP technique. Samples from patients with premature ovarian insufficiency after PCR-RFLP were submitted to Sanger sequencing of the encoding exons 2 and 3. Sequencing was performed on ABI 3500 GeneticAnalyzer equipment and the results were evaluated by SeqA and Variant Reporter software. Samples of 70 women with premature ovarian insufficiency and 97 fertile controls were evaluated. The G769A variant was found in only one patient in the Premature Ovarian Insufficiency Group and in no control, and it appears to be rare in Brazilian patients with premature ovarian insufficiency. This polymorphism was previously associated to premature ovarian insufficiency in several populations worldwide. There is genetic heterogeneity regarding the INHA gene in different populations, and among the causes of premature ovarian insufficiency.

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 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Other 3 21%
Student > Bachelor 3 21%
Student > Doctoral Student 2 14%
Student > Ph. D. Student 2 14%
Student > Master 2 14%
Other 0 0%
Unknown 2 14%
Readers by discipline Count As %
Medicine and Dentistry 6 43%
Biochemistry, Genetics and Molecular Biology 3 21%
Social Sciences 1 7%
Pharmacology, Toxicology and Pharmaceutical Science 1 7%
Unknown 3 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 08 December 2017.
All research outputs
#7,829,198
of 12,477,729 outputs
Outputs from Einstein (São Paulo)
#51
of 135 outputs
Outputs of similar age
#176,925
of 310,125 outputs
Outputs of similar age from Einstein (São Paulo)
#2
of 8 outputs
Altmetric has tracked 12,477,729 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 135 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 56% 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 310,125 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 33rd percentile – i.e., 33% 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 6 of them.