The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Carotid body paraganglioma and SDHD mutation in a Greek family.

BACKGROUND: Carotid body (CB) is a highly specialized paraganglion originating from the neural crest ectoderm. CB paraganglion can be caused either by a genetic predisposition (hereditary paraganglia) or by chronic hypoxic stimulation. Germline mutations in any of the following genes: SDHD, SDHC, SDHB, PGL2 or other unknown genes, can cause paragangliomas (PGLs). MATERIALS AND METHODS: We studied a Greek family in which the two daughters had carotid body paraganglioma, whereas both parents did not. RNA extraction, reverse transcriptase polymerase chain reaction and direct DNA sequencing were performed, in order to identify SDHD mutations in all four exons. RESULTS: Our results revealed the existence of the missense mutation Y114C, in exon-4 of the SDHD gene, in the unaffected father and both affected sisters. CONCLUSION: DNA testing was performed, for the first time in Greece, on patients with carotid body tumor. This marks a new geographical location, in the literature, for this mutation.[1]


  1. Carotid body paraganglioma and SDHD mutation in a Greek family. Liapis, C.D., Bellos, J.K., Halapas, A., Lembessis, P., Koutsilieris, M., Kostakis, A. Anticancer Res. (2005) [Pubmed]
WikiGenes - Universities