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)

[search][options]

Editor

Personal info

View

About

Terms

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

Clatterbuck, R.E. et al.

Vertebral hemangiomas associated with familial cerebral cavernous malformation: segmental disease expression. Case report.

Recently, several groups of authors have described mutations in the Krev interaction-trapped 1 [corrected] (KRIT1) gene in families in whom cerebral cavernous malformations (CCMs) are present. In a number of French kindreds harboring familial CCMs, cutaneous as well as cerebral manifestations of this autosomal-dominant disorder were demonstrated. Involvement of other tissues has been poorly described. The authors present the proband, in an affected family with a previously reported KRIT1 mutation, in whom vertebral hemangiomas in addition to cerebral and cutaneous lesions were found. One of the vertebral lesions was associated with a large cutaneous lesion. This combination of vertebral and overlying cutaneous lesions suggests segmental disease expression as the result of a second hit during development, implying loss of function as the relevant molecular pathogenic mechanism. This case illustrates that tissue involvement outside the nervous system must be considered when treating patients with familial CCMs.[1]

References

Vertebral hemangiomas associated with familial cerebral cavernous malformation: segmental disease expression. Case report. Clatterbuck, R.E., Cohen, B., Gailloud, P., Murphy, K., Rigamonti, D. J. Neurosurg. (2002) [Pubmed]

Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg