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

Author:

Bosakova Michaela123ORCID,Abraham Sara P1,Nita Alexandru1,Hruba Eva3,Buchtova Marcela3,Taylor S Paige4,Duran Ivan4,Martin Jorge4,Svozilova Katerina13,Barta Tomas5,Varecha Miroslav1,Balek Lukas1,Kohoutek Jiri6,Radaszkiewicz Tomasz7ORCID,Pusapati Ganesh V89,Bryja Vitezslav7ORCID,Rush Eric T1011,Thiffault Isabelle1011,Nickerson Deborah A12,Bamshad Michael J121314,Rohatgi Rajat89,Cohn Daniel H415,Krakow Deborah41617ORCID,Krejci Pavel123ORCID,

Affiliation:

1. Department of Biology Faculty of Medicine Masaryk University Brno Czech Republic

2. International Clinical Research Center St. Anne's University Hospital Brno Czech Republic

3. Institute of Animal Physiology and Genetics of the CAS Brno Czech Republic

4. Department of Orthopaedic Surgery David Geffen School of Medicine at UCLA Los Angeles CA USA

5. Department of Histology and Embryology Faculty of Medicine Masaryk University Brno Czech Republic

6. Veterinary Research Institute Brno Czech Republic

7. Institute of Experimental Biology Faculty of Science Masaryk University Brno Czech Republic

8. Department of Biochemistry Stanford University Palo Alto CA USA

9. Department of Medicine Stanford University Palo Alto CA USA

10. Children's Mercy Kansas City, Center for Pediatric Genomic Medicine Kansas City MO USA

11. Department of Pediatrics University of Missouri Kansas City MO USA

12. Department of Genome Sciences University of Washington Seattle WA USA

13. Department of Pediatrics University of Washington Seattle WA USA

14. Division of Genetic Medicine Seattle Children's Hospital Seattle WA USA

15. Department of Molecular Cell and Developmental Biology University of California at Los Angeles Los Angeles CA USA

16. Department of Human Genetics David Geffen School of Medicine at UCLA Los Angeles CA USA

17. Department of Obstetrics and Gynecology David Geffen School of Medicine at UCLA Los Angeles CA USA

Funder

National Institutes of Health

National Human Genome Research Institute

National Heart, Lung, and Blood Institute

Grantová Agentura České Republiky

Osteogenesis Imperfecta Foundation

National Institute of General Medical Sciences

Publisher

EMBO

Subject

Molecular Medicine

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