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Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations

Overview of attention for article published in Journal of Investigative Dermatology, September 2014
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Title
Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations
Published in
Journal of Investigative Dermatology, September 2014
DOI 10.1038/jid.2014.191
Pubmed ID
Authors

Ariana Kariminejad, Bita Bozorgmehr, Abdolhamid Najafi, Atefeh Khoshaeen, Maryam Ghalandari, Hossein Najmabadi, Mohamad H. Kariminejad, Olivier M. Vanakker, Mohammad J. Hosen, Fransiska Malfait, Daniela Quaglino, Ralph J. Florijn, Arthur A.B. Bergen, Raoul C. Hennekam

Abstract

Gamma-glutamyl carboxylase (GGCX) mutations have been reported in patients with a pseudoxanthoma elasticum (PXE)-like phenotype, loose redundant skin, and multiple vitamin K-dependent coagulation factor deficiencies. We report on the clinical findings and molecular results in 13 affected members of two families who had a uniform phenotype consisting of (PXE)-like skin manifestations in the neck and trunk, loose sagging skin of the trunk and upper limbs, and retinitis pigmentosa confirmed by electroretinographies in 10 affected individuals. There were no coagulation abnormalities. Molecular investigations of the ATP-binding cassette subfamily C member 6 did not yield causative mutations. All 13 affected family members were found to be homozygous for the splice-site mutation c.373+3G>T in the GGCX gene. All tested parents were heterozygous for the mutation, and healthy siblings were either heterozygous or had the wild type. We suggest that the present patients represent a hitherto unreported phenotype associated with GGCX mutations. Digenic inheritance has been suggested to explain the variability in phenotype in GGCX mutation carriers. Consequently, the present phenotype may not be explained only by the GGCX mutations only but may be influenced by variants in other genes or epigenetic and environmental factors.

Mendeley readers

The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Other 3 19%
Researcher 3 19%
Student > Master 3 19%
Student > Bachelor 2 13%
Professor > Associate Professor 2 13%
Other 3 19%
Readers by discipline Count As %
Medicine and Dentistry 6 38%
Biochemistry, Genetics and Molecular Biology 4 25%
Social Sciences 3 19%
Unspecified 2 13%
Engineering 1 6%
Other 0 0%

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 25 October 2014.
All research outputs
#10,671,950
of 12,033,966 outputs
Outputs from Journal of Investigative Dermatology
#5,965
of 6,264 outputs
Outputs of similar age
#184,670
of 226,977 outputs
Outputs of similar age from Journal of Investigative Dermatology
#58
of 69 outputs
Altmetric has tracked 12,033,966 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 6,264 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one is in the 1st percentile – i.e., 1% 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 226,977 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 69 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.