نتایج جستجو برای: kinky back

تعداد نتایج: 157088  

2007
Shaowen Bardzell Jeffrey Bardzell

Second Life, a participant-created multi-user virtual environment (MUVE), gained sudden media acclaim in 2006. Prior to that, the world was developing many of the characteristics that have come into their own today, such as virtual fashion lines, a thriving virtual economy, scripted interactive furniture, vehicles, and toys. Perhaps not surprisingly, much of the early content was adult in natur...

Journal: :Genetics 1995
J J Schrick M E Dickinson B L Hogan P B Selby R P Woychik

We have identified and characterized the phenotype of a new insertional mutation in one line of transgenic mice. Mice carrying this mutation, which we have designated TgN(Imusd)370Rpw, display undulations of the vertebrae giving rise to a novel kinky-tail phenotype. Molecular characterization of the insertion site indicates that the transgene integration has occurred without any substantial alt...

2016
Boglarka Bansagi David Lewis-Smith Endre Pal Jennifer Duff Helen Griffin Angela Pyle Juliane S. Müller Gabor Rudas Zsuzsanna Aranyi Hanns Lochmüller Patrick F. Chinnery Rita Horvath

Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.1,2 About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, ...

Journal: :Annals of clinical and laboratory science 1978
A D Garnica W Y Chan O M Rennert

Fibroblasts from infants with Menkes kinky hair syndrome, which accumulate excessive quantities of copper, are thought to represent a disorder of copper storage or transport. Because of this abnormality, it was thought that they might provide a useful system for investigation of the presumed storage or transport protein metallothionein. Data are presented which are consistent with defective cop...

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