Article
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
EMBO molecular medicine - 6 Nov 2020
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
Abstract excerpt
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...
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