Project information
Nové mechanizmy vzniku fatálních kostních ciliopatií u člověka

Project Identification
Project Period
1/2016 - 12/2017
Investor / Pogramme / Project type
Ministry of Education, Youth and Sports of the CR
MU Faculty or unit
Faculty of Medicine

The short rib polydactyly syndromes (SRPS) are frequently lethal conditions affecting skeletal development. Although they are broadly characterized as ciliopathies, most of the SRPS result from unknown biologic mechanisms. Elucidation of these mechanisms provides an invaluable opportunity to understand the primary cilia function. The team of Deborah Krakow at the University of California in Los Angeles has recently defined several SRPS genes in a cohort of 150 cases collected over the last 30 years. The team of Pavel Krejci at Masaryk University has developed novel experimental approaches to study the primary cilia, particularly focused on the skeleton. This project proposes a unique collaboration between two complementary teams to elucidate novel mechanisms in SRPS pathology.


Total number of publications: 10

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