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The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders
Joint Authors
Hosen, Mohammad J.
Vanakker, Olivier M.
De Vilder, Eva Y. G.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-18, 18 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-08-18
Country of Publication
Egypt
No. of Pages
18
Main Subjects
Abstract EN
The knowledge on the genetic etiology of complex disorders largely results from the study of rare monogenic disorders.
Often these common and rare diseases show phenotypic overlap, though monogenic diseases generally have a more extreme symptomatology.
ABCC6, the gene responsible for pseudoxanthoma elasticum, an autosomal recessive ectopic mineralization disorder, can be considered a paradigm gene with relevance that reaches far beyond this enigmatic orphan disease.
Indeed, common traits such as chronic kidney disease or cardiovascular disorders have been linked to the ABCC6 gene.
While during the last decade the awareness of the wide ramifications of ABCC6 has increased significantly, the gene itself and the transmembrane transporter it encodes have not unveiled all of the mysteries that surround them.
To gain more insights, multiple approaches are being used including next-generation sequencing, computational methods, and various “omics” technologies.
Much effort is made to place the vast amount of data that is gathered in an integrated system-biological network; the involvement of ABCC6 in common disorders provides a good view on the wide implications and potential of such a network.
In this review, we summarize the network approaches used to study ABCC6 and the role of this gene in several complex diseases.
American Psychological Association (APA)
De Vilder, Eva Y. G.& Hosen, Mohammad J.& Vanakker, Olivier M.. 2015. The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders. BioMed Research International،Vol. 2015, no. 2015, pp.1-18.
https://search.emarefa.net/detail/BIM-1056277
Modern Language Association (MLA)
De Vilder, Eva Y. G.…[et al.]. The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders. BioMed Research International No. 2015 (2015), pp.1-18.
https://search.emarefa.net/detail/BIM-1056277
American Medical Association (AMA)
De Vilder, Eva Y. G.& Hosen, Mohammad J.& Vanakker, Olivier M.. The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-18.
https://search.emarefa.net/detail/BIM-1056277
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1056277