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

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 illu...

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Detalles Bibliográficos
Autores principales: Bosakova, Michaela, Abraham, Sara P, Nita, Alexandru, Hruba, Eva, Buchtova, Marcela, Taylor, S Paige, Duran, Ivan, Martin, Jorge, Svozilova, Katerina, Barta, Tomas, Varecha, Miroslav, Balek, Lukas, Kohoutek, Jiri, Radaszkiewicz, Tomasz, Pusapati, Ganesh V, Bryja, Vitezslav, Rush, Eric T, Thiffault, Isabelle, Nickerson, Deborah A, Bamshad, Michael J, Rohatgi, Rajat, Cohn, Daniel H, Krakow, Deborah, Krejci, Pavel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7645380/
https://www.ncbi.nlm.nih.gov/pubmed/33200460
http://dx.doi.org/10.15252/emmm.201911739

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