Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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]

MeSH Review:

Genetic Diseases, X-Linked

Ghosh, A.K. et al., Griffin, D.K. et al., Hatch, G.M., Bertelli, M. et al., Briguet, A. et al.

Hatch, Briguet, Bleckmann, Bettan, Mermod, Meier,

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Genetic Diseases, X-Linked

Lesch-Nyhan syndrome (LSN, McKusick 300322) is an X-linked genetic disease due, in its typical form, to the complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) enzyme activity [1].

High impact information on Genetic Diseases, X-Linked

Mutations in the SEDL gene, located at human chromosome Xp22, has recently been implicated with an X-linked genetic disease, although the function of SEDL gene product was not determined (A. K. Gedeon et al., Nat. Genet. 22:400-404, 1999) [2].
With further refinements, this technique will offer a credible alternative to the polymerase chain reaction for the diagnosis of sex in human preimplantation embryos in families segregating for X-linked genetic disease [3].
Duchenne muscular dystrophy is an X-linked genetic disease caused by the absence of functional dystrophin [4].
In addition, reduction in the specific mitochondrial phospholipid cardiolipin is an underlying biochemical cause of Barth Syndrome, a rare and often fatal X-linked genetic disease that is associated with cardiomyopathy [5].

References

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. Bertelli, M., Randi, D., Micheli, V., Gallo, S., Andrighetto, G., Parmigiani, P., Jacomelli, G., Carella, M., Lievore, C., Pandolfo, M. J. Inherit. Metab. Dis. (2004) [Pubmed]
A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1. Ghosh, A.K., Majumder, M., Steele, R., White, R.A., Ray, R.B. Mol. Cell. Biol. (2001) [Pubmed]
Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei. Griffin, D.K., Wilton, L.J., Handyside, A.H., Winston, R.M., Delhanty, J.D. Hum. Genet. (1992) [Pubmed]
Transcriptional activation of the utrophin promoter B by a constitutively active Ets-transcription factor. Briguet, A., Bleckmann, D., Bettan, M., Mermod, N., Meier, T. Neuromuscul. Disord. (2003) [Pubmed]
Cell biology of cardiac mitochondrial phospholipids. Hatch, G.M. Biochem. Cell Biol. (2004) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

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.

Editor

Share