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Mendeley readers
Attention Score in Context
| Title |
Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133)
|
|---|---|
| Published in |
BMC Genomics, August 2016
|
| DOI | 10.1186/s12864-016-2937-2 |
| Pubmed ID | |
| Authors |
Liane Fischer, Caroline Wilde, Torsten Schöneberg, Ines Liebscher |
| Abstract |
A large number of human inherited and acquired diseases and phenotypes are caused by mutations in G protein-coupled receptors (GPCR). Genome-wide association studies (GWAS) have shown that variations in the ADGRD1 (GPR133) locus are linked with differences in metabolism, human height and heart frequency. ADGRD1 is a Gs protein-coupled receptor belonging to the class of adhesion GPCRs. Analysis of more than 1000 sequenced human genomes revealed approximately 9000 single nucleotide polymorphisms (SNPs) in the human ADGRD1 as listed in public data bases. Approximately 2.4 % of these SNPs are located in exons resulting in 129 non-synonymous SNPs (nsSNPs) at 119 positions of ADGRD1. However, the functional relevance of those variants is unknown. In-depth characterization of these amino acid changes revealed several nsSNPs (A448D, Q600stop, C632fs [frame shift], A761E, N795K) causing full or partial loss of receptor function, while one nsSNP (F383S) significantly increased basal activity of ADGRD1. Our results show that a broad spectrum of functionally relevant ADGRD1 variants is present in the human population which may cause clinically relevant phenotypes, while being compatible with life when heterozygous. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 45 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 45 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 8 | 18% |
| Researcher | 8 | 18% |
| Student > Bachelor | 5 | 11% |
| Student > Master | 4 | 9% |
| Student > Postgraduate | 2 | 4% |
| Other | 4 | 9% |
| Unknown | 14 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 13 | 29% |
| Agricultural and Biological Sciences | 6 | 13% |
| Pharmacology, Toxicology and Pharmaceutical Science | 3 | 7% |
| Neuroscience | 2 | 4% |
| Medicine and Dentistry | 2 | 4% |
| Other | 5 | 11% |
| Unknown | 14 | 31% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 09 November 2023.
All research outputs
#5,111,073
of 24,946,857 outputs
Outputs from BMC Genomics
#1,999
of 11,121 outputs
Outputs of similar age
#85,380
of 364,476 outputs
Outputs of similar age from BMC Genomics
#50
of 265 outputs
Altmetric has tracked 24,946,857 research outputs across all sources so far. Compared to these this one has done well and is in the 79th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 11,121 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done well, scoring higher than 81% 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 364,476 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 76% of its contemporaries.
We're also able to compare this research output to 265 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.