{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yu J"],"funding":["National Institute of Arthritis and Musculoskeletal and Skin Diseases","UConn Health","National Institute of Diabetes and Digestive and Kidney Diseases","NIDDK NIH HHS","European Commission","NIAMS NIH HHS"],"pagination":["101376"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8633688"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["297(6)"],"pubmed_abstract":["Notch2<sup>tm1.1Ecan</sup> mice, which harbor a mutation replicating that found in Hajdu-Cheney syndrome, exhibit marked osteopenia because of increased osteoclast number and bone resorption. Hairy and enhancer of split 1 (HES1) is a Notch target gene and a transcriptional modulator that determines osteoclast cell fate decisions. Transcript levels of Hes1 increase in Notch2<sup>tm1.1Ecan</sup> bone marrow-derived macrophages (BMMs) as they mature into osteoclasts, suggesting a role in osteoclastogenesis. To determine whether HES1 is responsible for the phenotype of Notch2<sup>tm1.1Ecan</sup> mice and the skeletal manifestations of Hajdu-Cheney syndrome, Hes1 was inactivated in Ctsk-expressing cells from Notch2<sup>tm1.1Ecan</sup> mice. Ctsk encodes the protease cathepsin K, which is expres"],"journal":["The Journal of biological chemistry"],"pubmed_title":["Hairy and enhancer of split 1 is a primary effector of NOTCH2 signaling and induces osteoclast differentiation and function."],"pmcid":["PMC8633688"],"funding_grant_id":["AR078149","R01 AR078149","DK045227","R01 DK045227","AR072987","R01 AR072987"],"pubmed_authors":["Schilling L","Canalis E","Yu J","Eller T"],"additional_accession":[]},"is_claimable":false,"name":"Hairy and enhancer of split 1 is a primary effector of NOTCH2 signaling and induces osteoclast differentiation and function.","description":"Notch2<sup>tm1.1Ecan</sup> mice, which harbor a mutation replicating that found in Hajdu-Cheney syndrome, exhibit marked osteopenia because of increased osteoclast number and bone resorption. Hairy and enhancer of split 1 (HES1) is a Notch target gene and a transcriptional modulator that determines osteoclast cell fate decisions. Transcript levels of Hes1 increase in Notch2<sup>tm1.1Ecan</sup> bone marrow-derived macrophages (BMMs) as they mature into osteoclasts, suggesting a role in osteoclastogenesis. To determine whether HES1 is responsible for the phenotype of Notch2<sup>tm1.1Ecan</sup> mice and the skeletal manifestations of Hajdu-Cheney syndrome, Hes1 was inactivated in Ctsk-expressing cells from Notch2<sup>tm1.1Ecan</sup> mice. Ctsk encodes the protease cathepsin K, which is expres","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2026-05-09T12:59:47.666Z","creation":"2022-02-11T14:17:09.577Z"},"accession":"S-EPMC8633688","cross_references":{"pubmed":["34742737"],"doi":["10.1016/j.jbc.2021.101376"]}}