{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bonatto Paese CL"],"funding":["NIDCR NIH HHS","National Institute of Dental and Craniofacial Research","Cincinnati Children's Hospital Medical Center"],"pagination":["dmm049611"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9403750"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(8)"],"pubmed_abstract":["Ciliopathies represent a disease class characterized by a broad range of phenotypes including polycystic kidneys and skeletal anomalies. Ciliopathic skeletal phenotypes are among the most common and most difficult to treat due to a poor understanding of the pathological mechanisms leading to disease. Using an avian model (talpid2) for a human ciliopathy with both kidney and skeletal anomalies (orofaciodigital syndrome 14), we identified disruptions in the FGF23-PTH axis that resulted in reduced calcium uptake in the developing mandible and subsequent micrognathia. Although pharmacological intervention with the U.S. Food and Drug Administration (FDA)-approved pan-FGFR inhibitor AZD4547 alone rescued expression of the FGF target SPRY2, it did not significantly rescue micrognathia. In contras"],"journal":["Disease models & mechanisms"],"pubmed_title":["Pharmacological intervention of the FGF-PTH axis as a potential therapeutic for craniofacial ciliopathies."],"pmcid":["PMC9403750"],"funding_grant_id":["R35 DE027557"],"pubmed_authors":["Brugmann SA","Kristekova D","Chang CF","Bonatto Paese CL"],"additional_accession":[]},"is_claimable":false,"name":"Pharmacological intervention of the FGF-PTH axis as a potential therapeutic for craniofacial ciliopathies.","description":"Ciliopathies represent a disease class characterized by a broad range of phenotypes including polycystic kidneys and skeletal anomalies. Ciliopathic skeletal phenotypes are among the most common and most difficult to treat due to a poor understanding of the pathological mechanisms leading to disease. Using an avian model (talpid2) for a human ciliopathy with both kidney and skeletal anomalies (orofaciodigital syndrome 14), we identified disruptions in the FGF23-PTH axis that resulted in reduced calcium uptake in the developing mandible and subsequent micrognathia. Although pharmacological intervention with the U.S. Food and Drug Administration (FDA)-approved pan-FGFR inhibitor AZD4547 alone rescued expression of the FGF target SPRY2, it did not significantly rescue micrognathia. In contras","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-19T01:36:34.125Z","creation":"2025-04-07T12:21:51.961Z"},"accession":"S-EPMC9403750","cross_references":{"pubmed":["35818799"],"doi":["10.1242/dmm.049611"]}}