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MeSH Review:

Bardet-Biedl Syndrome

Mak, H.Y. et al., Katsumi, O. et al., Arshinoff, S.A. et al., Mozaffarian, G. et al.

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Disease relevance of Bardet-Biedl Syndrome

Tubby mice and individuals with Bardet-Biedl syndrome have defects in ciliated neuron function and obesity, suggesting an as-yet unknown metabolic signaling axis from ciliated neurons to fat storage tissues [1].

High impact information on Bardet-Biedl Syndrome

The Laurence-Moon-Bardet-Biedl syndrome: unresponsiveness to the action of testosterone, a possible mechanism [2].
Branched-chain amino acids and arginine were present in increased amounts in 2 patients with Laurence-Moon-Bardet-Biedl syndrome [3].
Four cases of Laurence-Moon-Bardet-Biedl syndrome were studied through electrophysiological and psychophysical examinations, and findings were correlated with those of fluorescein angiography [4].

References

Polygenic control of Caenorhabditis elegans fat storage. Mak, H.Y., Nelson, L.S., Basson, M., Johnson, C.D., Ruvkun, G. Nat. Genet. (2006) [Pubmed]
The Laurence-Moon-Bardet-Biedl syndrome: unresponsiveness to the action of testosterone, a possible mechanism. Mozaffarian, G., Nakhjavani, M.K., Farrahi, A. Fertil. Steril. (1979) [Pubmed]
Amino acids in retinitis pigmentosa. Arshinoff, S.A., McCulloch, J.C., Macrae, W., Stein, A.N., Marliss, E.B. The British journal of ophthalmology. (1981) [Pubmed]
Laurence-Moon-Bardet-Biedl syndrome: electrophysical and psychophysical findings. Katsumi, O., Tanino, T., Hirose, T., Larson, E.W., Skladzien, C.J. Jpn. J. Ophthalmol. (1985) [Pubmed]

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