{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["20"],"submitter":["Xu Q"],"pubmed_abstract":["Filamin B (FLNB) plays an important role in skeletal development. Mutations in <i>FLNB</i> can lead to skeletal malformation such as an abnormal number of ossification centers, indicating that the skeletal segmentation in the embryonic period may be interfered with. We established a mouse model with the pathogenic point mutation <i>FLNB</i> NM_001081427.1: c.4756G > A (p.Gly1586Arg) using CRISPR-Cas9 technology. Micro-CT, HE staining and whole skeletal preparation were performed to examine the skeletal malformation. <i>In situ</i> hybridization of embryos was performed to examine the transcription of <i>HOX</i> genes during embryonic development. The expression of <i>FLNB</i> was downregulated in <i>FLNB</i><sup><i>G1586R/G1586R</i></sup> and <i>FLNB</i><sup><i>WT/G1586R</i></sup> mice, co"],"journal":["Bone reports"],"pagination":["101746"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10924170"],"repository":["biostudies-literature"],"pubmed_title":["Disruption of <i>FLNB</i> leads to skeletal malformation by interfering with skeletal segmentation through the <i>HOX</i> gene."],"pmcid":["PMC10924170"],"pubmed_authors":["Cui L","Xu Q","Lin Y","Cui LA","Xia W"],"additional_accession":[]},"is_claimable":false,"name":"Disruption of <i>FLNB</i> leads to skeletal malformation by interfering with skeletal segmentation through the <i>HOX</i> gene.","description":"Filamin B (FLNB) plays an important role in skeletal development. Mutations in <i>FLNB</i> can lead to skeletal malformation such as an abnormal number of ossification centers, indicating that the skeletal segmentation in the embryonic period may be interfered with. We established a mouse model with the pathogenic point mutation <i>FLNB</i> NM_001081427.1: c.4756G > A (p.Gly1586Arg) using CRISPR-Cas9 technology. Micro-CT, HE staining and whole skeletal preparation were performed to examine the skeletal malformation. <i>In situ</i> hybridization of embryos was performed to examine the transcription of <i>HOX</i> genes during embryonic development. The expression of <i>FLNB</i> was downregulated in <i>FLNB</i><sup><i>G1586R/G1586R</i></sup> and <i>FLNB</i><sup><i>WT/G1586R</i></sup> mice, co","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-04T21:31:04.842Z","creation":"2025-04-04T21:31:04.842Z"},"accession":"S-EPMC10924170","cross_references":{"pubmed":["38463381"],"doi":["10.1016/j.bonr.2024.101746"]}}