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A novel DSPPmutation is associated with type II dentinogenesis Imperfecta in a chinese family

Overview of attention for article published in BMC Medical Genetics, August 2007
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (64th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

Mentioned by

wikipedia
2 Wikipedia pages

Citations

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32 Dimensions

Readers on

mendeley
15 Mendeley
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Title
A novel DSPPmutation is associated with type II dentinogenesis Imperfecta in a chinese family
Published in
BMC Medical Genetics, August 2007
DOI 10.1186/1471-2350-8-52
Pubmed ID
Authors

Xianqin Zhang, Lanying Chen, Jingyu Liu, Zhen Zhao, Erjun Qu, Xiaotao Wang, Wei Chang, Chengqi Xu, Qing K Wang, Mugen Liu

Abstract

Hereditary defects of tooth dentin are classified into two main groups: dentin dysplasia (DD) (types I and II) and dentinogenesis imperfecta (DGI) (types I, II, and III). Type II DGI is one of the most common tooth defects with an autosomal dominant mode of inheritance. One disease-causing gene, the dentin sialophosphoprotein (DSPP) gene, has been reported for type II DGI. In this study, we characterized a four-generation Chinese family with type II DGI that consists of 18 living family members, including 8 affected individuals. Linkage analysis with polymorphic markers D4S1534 and D4S414 that span the DSPP gene showed that the family is linked to DSPP. All five exons and exon-intron boundaries of DSPP were sequenced in members of type II DGI family. Direct DNA sequence analysis identified a novel mutation (c.49C-->T, p.Pro17Ser) in exon 1 of the DSPP gene. The mutation spot, the Pro17 residue, is the second amino acid of the mature DSP protein, and highly conserved during evolution. The mutation was identified in all affected individuals, but not in normal family members and 100 controls. These results suggest that mutation p.Pro17Ser causes type II DGI in the Chinese family. This study identifies a novel mutation in the DSPP gene, and expands the spectrum of mutations that cause DGI.

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 27%
Student > Bachelor 3 20%
Lecturer 1 7%
Student > Master 1 7%
Student > Ph. D. Student 1 7%
Other 2 13%
Unknown 3 20%
Readers by discipline Count As %
Medicine and Dentistry 8 53%
Biochemistry, Genetics and Molecular Biology 2 13%
Agricultural and Biological Sciences 1 7%
Unknown 4 27%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 07 December 2017.
All research outputs
#3,515,933
of 12,265,937 outputs
Outputs from BMC Medical Genetics
#138
of 721 outputs
Outputs of similar age
#118,406
of 343,675 outputs
Outputs of similar age from BMC Medical Genetics
#4
of 57 outputs
Altmetric has tracked 12,265,937 research outputs across all sources so far. This one is in the 49th percentile – i.e., 49% of other outputs scored the same or lower than it.
So far Altmetric has tracked 721 research outputs from this source. They receive a mean Attention Score of 2.6. This one has gotten more attention than average, scoring higher than 69% 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 343,675 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 64% of its contemporaries.
We're also able to compare this research output to 57 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 92% of its contemporaries.