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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.
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
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  Data: Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
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  Data: <searchLink fieldCode="AU" term="%22Bosakova+M%22">Bosakova M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Abraham+SP%22">Abraham SP</searchLink>; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Nita+A%22">Nita A</searchLink>; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Hruba+E%22">Hruba E</searchLink>; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Buchtova+M%22">Buchtova M</searchLink>; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Taylor+SP%22">Taylor SP</searchLink>; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Duran+I%22">Duran I</searchLink>; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Martin+J%22">Martin J</searchLink>; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Svozilova+K%22">Svozilova K</searchLink>; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Barta+T%22">Barta T</searchLink>; Department of Histology and Embryology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Varecha+M%22">Varecha M</searchLink>; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Balek+L%22">Balek L</searchLink>; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Kohoutek+J%22">Kohoutek J</searchLink>; Veterinary Research Institute, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Radaszkiewicz+T%22">Radaszkiewicz T</searchLink>; Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Pusapati+GV%22">Pusapati GV</searchLink>; Department of Biochemistry, Stanford University, Palo Alto, CA, USA.; Department of Medicine, Stanford University, Palo Alto, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bryja+V%22">Bryja V</searchLink>; Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Rush+ET%22">Rush ET</searchLink>; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri, Kansas City, MO, USA.<br /><searchLink fieldCode="AU" term="%22Nickerson+DA%22">Nickerson DA</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Bamshad+MJ%22">Bamshad MJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rohatgi+R%22">Rohatgi R</searchLink>; Department of Biochemistry, Stanford University, Palo Alto, CA, USA.; Department of Medicine, Stanford University, Palo Alto, CA, USA.<br /><searchLink fieldCode="AU" term="%22Cohn+DH%22">Cohn DH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Krakow+D%22">Krakow D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Krejci+P%22">Krejci P</searchLink>; 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.
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