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

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

Abstract 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 h...

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Main Authors: Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci
Format: Article
Language:English
Published: Springer Nature 2020-10-01
Series:EMBO Molecular Medicine
Subjects:
asphyxiating thoracic dystrophy
GRK2
hedgehog
smoothened
Wnt
Online Access:https://doi.org/10.15252/emmm.201911739
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https://doi.org/10.15252/emmm.201911739

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