| VernelurF | Дата: Вторник, 03.09.2013, 12:36 | Сообщение # 1 |
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| Previous studies had shown a relation between PITX1 and the development of hindlimbs in other vertebrates. In mice, a loss of PITX1 leads to shorter femur length and fewer digits on the right foot than on the left. An alteration of the gene in a developing chick wing changes it so that it looks more like a leg. In vertebrates such as the manatee and stickleback fish, an alteration has resulted in evolutionary changes in the development of the pelvis. It's our job to prove that this is going to be important for many kids with clubfoot, Gurnett said. Until now, we didn't know whether clubfoot was a muscle, nerve, spinal cord or brain problem.
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Now, we have an idea that clubfoot may result from mutations of genes that are involved in early limb development. Gurnett said she and her colleagues will take the finding back to the lab to look for other factors involved in the pathway or how environmental effects may influence the gene. She and Dobbs, who have been studying the genetics of clubfoot for a decade, plan to investigate the frequency of PITX1 gene mutations in other families with clubfoot. Gurnett C, Alaee F, Kruse L, Desruisseau D, Hecht J, Wise C, Bowcock A, Dobbs M. Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation. 2008 Funding from the National Institutes of Health, The Children's Discovery Institute, the March of Dimes Basil O'Connor Starter Scholar Research Award, St.
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