Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
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| Title: | Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. |
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| Authors: | Bosakova M; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.; International Clinical Research Center, St. Anne's University Hospital, Brno, Czech Republic.; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic., Abraham SP; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Nita A; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Hruba E; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic., Buchtova M; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic., Taylor SP; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Duran I; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Martin J; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Svozilova K; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic., Barta T; Department of Histology and Embryology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Varecha M; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Balek L; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Kohoutek J; Veterinary Research Institute, Brno, Czech Republic., Radaszkiewicz T; Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic., Pusapati GV; Department of Biochemistry, Stanford University, Palo Alto, CA, USA.; Department of Medicine, Stanford University, Palo Alto, CA, USA., Bryja V; Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic., Rush ET; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri, Kansas City, MO, USA., Thiffault I; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri, Kansas City, MO, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Rohatgi R; Department of Biochemistry, Stanford University, Palo Alto, CA, USA.; Department of Medicine, Stanford University, Palo Alto, CA, USA., Cohn DH; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Department of Molecular Cell and Developmental Biology, University of California at Los Angeles, Los Angeles, CA, USA., Krakow D; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Krejci P; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.; International Clinical Research Center, St. Anne's University Hospital, Brno, Czech Republic.; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic. |
| Corporate Authors: | University of Washington Center for Mendelian Genomics |
| Source: | EMBO molecular medicine [EMBO Mol Med] 2020 Nov 06; Vol. 12 (11), pp. e11739. Date of Electronic Publication: 2020 Oct 14. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1757-4684 |
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| DOI: | 10.15252/emmm.201911739 |
