Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling
Open Access
- 14 October 2020
- journal article
- research article
- Published by Springer Nature in EMBO Molecular Medicine
- Vol. 12 (11), e11739
- https://doi.org/10.15252/emmm.201911739
Abstract
EMBO Press is an editorially independent publishing platform for the development of EMBO scientific publications.Keywords
Funding Information
- National Institutes of Health (RO1 AR066124, R01 AR062651, RO1 DE019567)
- National Human Genome Research Institute (UM1 HG006493)
- National Heart, Lung, and Blood Institute (U24 HG008956)
- Grantová Agentura České Republiky (GA17‐09525S, GA19‐20123S, GA18‐17658S, GA17‐16680S, 16‐24043J)
- Osteogenesis Imperfecta Foundation
- National Institute of General Medical Sciences (GM118082)
This publication has 104 references indexed in Scilit:
- Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60American Journal of Human Genetics, 2013
- WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis ImperfectaNew England Journal of Medicine, 2013
- Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 MutationsAmerican Journal of Human Genetics, 2012
- Exome Sequencing Identifies PDE4D Mutations in AcrodysostosisAmerican Journal of Human Genetics, 2012
- Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19American Journal of Human Genetics, 2011
- NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type MajewskiAmerican Journal of Human Genetics, 2011
- Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner SyndromeAmerican Journal of Human Genetics, 2010
- The relationship between sonic Hedgehog signaling, cilia, and neural tube defectsBirth Defects Research Part A: Clinical and Molecular Teratology, 2010
- Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 GeneAmerican Journal of Human Genetics, 2010
- Multiple PPPS/TP motifs act in a combinatorial fashion to transduce Wnt signaling through LRP6FEBS Letters, 2007