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)

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Carney complex ( CNC) is a familial multiple neoplasia syndrome characterized by cardiac and extracardiac myxomas in the setting of spotty skin pigmentation and endocrinopathy. We previously identified PRKAR1A (regulatory subunit 1alpha of protein kinase A) mutations in CNC. Mutational analyses of the PRKAR1A gene in 51 unrelated CNC probands now detect mutations in 65%. All mutations, except for one unique missense mutation, lead to PRKAR1A haploinsufficiency. Therefore, we studied the consequences of prkar1a haploinsufficiency in mice. Although we did not observe cardiac myxomas or altered pigmentation in prkar1a(+/-) mice, we did observe some phenotypes similar to CNC, including altered heart rate variability. Moreover, prkar1a(+/-) mice exhibited a marked propensity for extracardiac tumorigenesis. They developed sarcomas and hepatocellular carcinomas. Sarcomas were frequently associated with myxomatous differentiation. Tumors from prkar1a(+/-) mice did not exhibit prkar1a loss of heterozygosity. Thus, we conclude that although PRKAR1A haploinsufficiency does predispose to tumorigenesis, distinct secondary genetic events are required for tumor formation.[1]


  1. Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Veugelers, M., Wilkes, D., Burton, K., McDermott, D.A., Song, Y., Goldstein, M.M., La Perle, K., Vaughan, C.J., O'Hagan, A., Bennett, K.R., Meyer, B.J., Legius, E., Karttunen, M., Norio, R., Kaariainen, H., Lavyne, M., Neau, J.P., Richter, G., Kirali, K., Farnsworth, A., Stapleton, K., Morelli, P., Takanashi, Y., Bamforth, J.S., Eitelberger, F., Noszian, I., Manfroi, W., Powers, J., Mochizuki, Y., Imai, T., Ko, G.T., Driscoll, D.A., Goldmuntz, E., Edelberg, J.M., Collins, A., Eccles, D., Irvine, A.D., McKnight, G.S., Basson, C.T. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
WikiGenes - Universities