Project information
Nové mechanizmy vzniku fatálních kostních ciliopatií u člověka

Information

This project doesn't include Faculty of Sports Studies. It includes Faculty of Medicine. Official project website can be found on muni.cz.

Project Identification

LH15231

Project Period

1/2016 - 12/2017

Investor / Pogramme / Project type

Ministry of Education, Youth and Sports of the CR

KONTAKT II

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.

Publications

Total number of publications: 10

2020

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

BOSÁKOVÁ Michaela POOVAKULATHU ABRAHAM Sara NITĂ Alexandru HRUBA Eva BUCHTOVA Marcela TAYLOR S. Paige DURAN Ivan MARTIN Jorge SVOZILOVÁ Kateřina BÁRTA Tomáš VAŘECHA Miroslav BÁLEK Lukáš KOHOUTEK Jiri RADASZKIEWICZ Tomasz Witold PUSAPATI Ganesh V. BRYJA Vítězslav RUSH Eric T. THIFFAULT Isabelle NICKERSON Deborah A. BAMSHAD Michael J. ROHATGI Rajat COHN Daniel H. KRAKOW Deborah KREJČÍ Pavel

Article in Periodical

EMBO MOLECULAR MEDICINE, year: 2020, volume: 12, edition: 11, DOI

2019

Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase

BOSÁKOVÁ Michaela NITĂ Alexandru GREGOR Tomáš VAŘECHA Miroslav GUDERNOVÁ Iva FAFÍLEK Bohumil BÁRTA Tomáš BASHEER Neha POOVAKULATHU ABRAHAM Sara BÁLEK Lukáš TOMANOVÁ Markéta FIALOVÁ KUČEROVÁ Jana BOSÁK Juraj POTĚŠIL David ZIEBA Jennifer SONG Jieun KONIK Peter PARK Sohyun DURAN Ivan ZDRÁHAL Zbyněk ŠMAJS David JANSEN Gert FU Zheng KO Hyuk Wan HAMPL Aleš TRANTÍREK Lukáš KRAKOW Deborah KREJČÍ Pavel

Article in Periodical

Proceedings of the National Academy of Sciences of the United States of America, year: 2019, volume: 116, edition: 10, DOI

2018

Nanodiamonds as "artificial proteins": Regulation of a cell signalling system using low nanomolar solutions of inorganic nanocrystals

BÁLEK Lukáš BUCHTOVÁ Marcela BOSÁKOVÁ Michaela VAŘECHA Miroslav TRANTÍRKOVÁ Silvie GUDERNOVÁ Iva VESELÁ Iva HAVLIK Jan NEBURKOVA Jitka TURNER Stuart KRZYSCIK Mateusz Adam ZAKRZEWSKA Malgorzata KLIMASCHEWSKI Lars CLAUS Peter TRANTÍREK Lukáš CIGLER Petr KREJČÍ Pavel

Article in Periodical

Biomaterials, year: 2018, volume: 176, edition: SEP 2018, DOI
Proteomic analyses of signalling complexes associated with receptor tyrosine kinase identify novel members of fibroblast growth factor receptor 3 interactome

BÁLEK Lukáš NĚMEC Pavel KONIK P. BOSÁKOVÁ Michaela VAŘECHA Miroslav GUDERNOVÁ Iva MEDALOVÁ Jiřina KRAKOW Deborah KREJČÍ Pavel

Article in Periodical

Cellular Signalling, year: 2018, volume: 42, edition: JAN 2018, DOI
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies

BOSÁKOVÁ Michaela VAŘECHA Miroslav HAMPL Marek DURAN Ivan NITĂ Alexandru BUCHTOVÁ Marcela DOSEDELOVA Hana MACHÁT Radek XIE Yangli NI Zhenhong MARTIN Jorge H. CHEN Lin JANSEN Gert KRAKOW Deborah KREJČÍ Pavel

Article in Periodical

Human molecular genetics, year: 2018, volume: 27, edition: 6, DOI
The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases

FAFÍLEK Bohumil BÁLEK Lukáš BOSÁKOVÁ Michaela VAŘECHA Miroslav NITĂ Alexandru GREGOR Tomáš GUDERNOVÁ Iva KŘENOVÁ Jitka GHOSH S. PISKÁČEK Martin JONATOVA Lucie ČERNOHORSKÁ Nicole ZIEBA J.T. KOSTAS M. HAUGSTEN E.M. WESCHE J. ERNEUX C. TRANTÍREK Lukáš KRAKOW D. KREJČÍ Pavel

Article in Periodical

SCIENCE SIGNALING, year: 2018, volume: 11, edition: 548, DOI

2017

A Novel Role for the BMP Antagonist Noggin in Sensitizing Cells to Non-canonical Wnt-5a/Ror2/Disheveled Pathway Activation

BERNATÍK Ondřej RADASZKIEWICZ Tomasz Witold BĚHAL Martin DAVE Zankruti WITTE Florian MAHL Annika ČERNOHORSKÁ Nicole KREJČÍ Pavel STRICKER Sigmar BRYJA Vítězslav

Article in Periodical

Frontiers in Cell and Developmental Biology, year: 2017, volume: 5, edition: MAY, DOI
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480

GUDERNOVÁ Iva BÁLEK Lukáš VAŘECHA Miroslav FIALOVÁ KUČEROVÁ Jana BOSÁKOVÁ Michaela FAFÍLEK Bohumil PALUŠOVÁ Veronika ULDRIJAN Stjepan TRANTÍREK Lukáš KREJČÍ Pavel

Article in Periodical

Oncotarget, year: 2017, volume: 8, edition: 65, DOI
One reporter for in-cell activity profiling of majority of protein kinase oncogenes

GUDERNOVÁ Iva TRANTÍRKOVÁ Silvie EL GHANNAMOVÁ Barbora FAFÍLEK Bohumil VAŘECHA Miroslav BÁLEK Lukáš HRUBÁ Eva JONÁTOVÁ Lucie JELÍNKOVÁ Iva BOSÁKOVÁ Michaela TRANTÍREK Lukáš MAYER Jiří KREJČÍ Pavel

Article in Periodical

eLife, year: 2017, volume: 6, edition: "e21536", DOI

2016

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

TAYLOR S. Paige BOSÁKOVÁ Michaela VAŘECHA Miroslav BÁLEK Lukáš BÁRTA Tomáš TRANTÍREK Lukáš JELÍNKOVÁ Iva DURAN Ivan VESELÁ Iva FORLENZA Kimberly N. MARTIN Jorge H. HAMPL Aleš BAMSHAD Michael NICKERSON Deborah JAWORSKI Margie L. SONG Jieun WAN KO Hyuk COHN Daniel H. KRAKOW Deborah KREJČÍ Pavel

Article in Periodical

Human Molecular Genetics, year: 2016, volume: 25, edition: 18, DOI