Informace o projektu

Nové mechanizmy vzniku fatálních kostních ciliopatií u člověka

Kód projektu
LH15231
Období řešení
1/2016 - 12/2017
Investor / Programový rámec / typ projektu
Ministerstvo školství, mládeže a tělovýchovy ČR
Fakulta / Pracoviště MU
Lékařská fakulta

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.

Publikace

Počet publikací: 9