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Autor
Abraham, Sara P 1 Balek, Lukas 1 Bamshad, Michael J 1 Barta, Tomas 1 Bosakova, Michaela 1 Bryja, Vitezslav 1 Buchtova, Marcela 1 Cohn, Daniel H 1 Duran, Ivan 1 Hruba, Eva 1 Kohoutek, Jiri 1 Krakow, Deborah 1 Krejci, Pavel 1 Martin, Jorge 1 Nickerson, Deborah A 1 Nita, Alexandru 1 Pusapati, Ganesh V 1 Radaszkiewicz, Tomasz 1 Rohatgi, Rajat 1 Rush, Eric T 1
- Organizace
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Pracoviště
Children's Mercy Kansas City Center f... 1 Department of Biochemistry Stanford U... 1 Department of Biology Faculty of Medi... 1 Department of Genome Sciences Univers... 1 Department of Histology and Embryolog... 1 Department of Human Genetics David Ge... 1 Department of Medicine Stanford Unive... 1 Department of Molecular Cell and Deve... 1 Department of Obstetrics and Gynecolo... 1 Department of Orthopaedic Surgery Dav... 1 Department of Pediatrics University o... 1 Department of Pediatrics University o... 1 Division of Genetic Medicine Seattle ... 1 Institute of Animal Physiology and Ge... 1 Institute of Experimental Biology Fac... 1 International Clinical Research Cente... 1 Veterinary Research Institute Brno Cz... 1
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Autor
Abraham, Sara P 1 Balek, Lukas 1 Bamshad, Michael J 1 Barta, Tomas 1 Bosakova, Michaela 1 Bryja, Vitezslav 1 Buchtova, Marcela 1 Cohn, Daniel H 1 Duran, Ivan 1 Hruba, Eva 1 Kohoutek, Jiri 1 Krakow, Deborah 1 Krejci, Pavel 1 Martin, Jorge 1 Nickerson, Deborah A 1 Nita, Alexandru 1 Pusapati, Ganesh V 1 Radaszkiewicz, Tomasz 1 Rohatgi, Rajat 1 Rush, Eric T 1
- Organizace
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Pracoviště
Children's Mercy Kansas City Center f... 1 Department of Biochemistry Stanford U... 1 Department of Biology Faculty of Medi... 1 Department of Genome Sciences Univers... 1 Department of Histology and Embryolog... 1 Department of Human Genetics David Ge... 1 Department of Medicine Stanford Unive... 1 Department of Molecular Cell and Deve... 1 Department of Obstetrics and Gynecolo... 1 Department of Orthopaedic Surgery Dav... 1 Department of Pediatrics University o... 1 Department of Pediatrics University o... 1 Division of Genetic Medicine Seattle ... 1 Institute of Animal Physiology and Ge... 1 Institute of Experimental Biology Fac... 1 International Clinical Research Cente... 1 Veterinary Research Institute Brno Cz... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
Free Medical Journals od 2009
PubMed Central od 2009
Europe PubMed Central od 2009
ProQuest Central od 2009-04-01
Open Access Digital Library od 2009-01-01
Open Access Digital Library od 2009-01-01
Open Access Digital Library od 2009-01-01
Medline Complete (EBSCOhost) od 2011-01-01
Health & Medicine (ProQuest) od 2009-04-01
ROAD: Directory of Open Access Scholarly Resources od 2008
PubMed
33200460
DOI
10.15252/emmm.201911739
Knihovny.cz E-zdroje
Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. This includes Jeune syndrome or asphyxiating thoracic dystrophy (ATD), an autosomal recessive skeletal disorder. Unraveling the responsible molecular pathology helps illuminate mechanisms responsible for functional primary cilia. We identified two families with ATD caused by loss-of-function mutations in the gene encoding adrenergic receptor kinase 1 (ADRBK1 or GRK2). GRK2 cells from an affected individual homozygous for the p.R158* mutation resulted in loss of GRK2, and disrupted chondrocyte growth and differentiation in the cartilage growth plate. GRK2 null cells displayed normal cilia morphology, yet loss of GRK2 compromised cilia-based signaling of Hedgehog (Hh) pathway. Canonical Wnt signaling was also impaired, manifested as a failure to respond to Wnt ligand due to impaired phosphorylation of the Wnt co-receptor LRP6. We have identified GRK2 as an essential regulator of skeletogenesis and demonstrate how both Hh and Wnt signaling mechanistically contribute to skeletal ciliopathies.
- MeSH
- Ellisův-van Creveldův syndrom * MeSH
- kinasa 2 receptorů spřažených s G-proteiny genetika MeSH
- lidé MeSH
- mutace MeSH
- proteiny hedgehog * genetika MeSH
- signální dráha Wnt MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
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