Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD patient and a transgenic insertion site in the polyd...

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Main Authors: Lettice, Laura A., Horikoshi, Taizo, Heaney, Simon J. H., van Baren, Marijke J., van der Linde, Herma C., Breedveld, Guido J., Joosse, Marijke, Akarsu, Nurten, Oostra, Ben A., Endo, Naoto, Shibata, Minoru, Suzuki, Mikio, Takahashi, Eiichi, Shinka, Toshikatsu, Nakahori, Yutaka, Ayusawa, Dai, Nakabayashi, Kazuhiko, Scherer, Stephen W., Heutink, Peter, Hill, Robert E., Noji, Sumihare
Format: Artigo
Sprog:Inglês
Udgivet: The National Academy of Sciences 2002
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC124279/
https://ncbi.nlm.nih.gov/pubmed/12032320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.112212199
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