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Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD

Overview of attention for article published in European Journal of Human Genetics, August 2007
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (72nd percentile)

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Citations

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98 Mendeley
Title
Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
Published in
European Journal of Human Genetics, August 2007
DOI 10.1038/sj.ejhg.5201904
Pubmed ID
Authors

Barbara Pasini, Sarah R McWhinney, Thalia Bei, Ludmila Matyakhina, Sotirios Stergiopoulos, Michael Muchow, Sosipatros A Boikos, Barbara Ferrando, Karel Pacak, Guillaume Assie, Eric Baudin, Agnes Chompret, Jay W Ellison, Jean-Jacques Briere, Pierre Rustin, Anne-Paule Gimenez-Roqueplo, Charis Eng, J Aidan Carney, Constantine A Stratakis

Abstract

Gastrointestinal stromal tumors (GISTs) may be caused by germline mutations of the KIT and platelet-derived growth factor receptor-alpha (PDGFRA) genes and treated by Imatinib mesylate (STI571) or other protein tyrosine kinase inhibitors. However, not all GISTs harbor these genetic defects and several do not respond to STI571 suggesting that other molecular mechanisms may be implicated in GIST pathogenesis. In a subset of patients with GISTs, the lesions are associated with paragangliomas; the condition is familial and transmitted as an autosomal-dominant trait. We investigated 11 patients with the dyad of 'paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively). In this report, we present the molecular effects of these mutations on these genes and the clinical information on the patients. We conclude that succinate dehydrogenase deficiency may be the cause of a subgroup of GISTs and this offers a therapeutic target for GISTs that may not respond to STI571 and its analogs.

Mendeley readers

The data shown below were compiled from readership statistics for 98 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 1 1%
Greece 1 1%
Czechia 1 1%
Unknown 95 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 22 22%
Student > Ph. D. Student 19 19%
Other 13 13%
Student > Postgraduate 8 8%
Student > Bachelor 8 8%
Other 21 21%
Unknown 7 7%
Readers by discipline Count As %
Medicine and Dentistry 55 56%
Agricultural and Biological Sciences 20 20%
Biochemistry, Genetics and Molecular Biology 9 9%
Engineering 2 2%
Economics, Econometrics and Finance 1 1%
Other 3 3%
Unknown 8 8%

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 06 September 2010.
All research outputs
#816,180
of 3,630,432 outputs
Outputs from European Journal of Human Genetics
#449
of 1,254 outputs
Outputs of similar age
#24,445
of 94,271 outputs
Outputs of similar age from European Journal of Human Genetics
#74
of 75 outputs
Altmetric has tracked 3,630,432 research outputs across all sources so far. This one has received more attention than most of these and is in the 63rd percentile.
So far Altmetric has tracked 1,254 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.5. This one is in the 41st percentile – i.e., 41% 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 94,271 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 72% of its contemporaries.
We're also able to compare this research output to 75 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.