{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["75(5)"],"submitter":["Gao Q"],"pubmed_abstract":["<h4>Introduction and aims</h4>To identify the genetic cause of dentinogenesis imperfecta type II (DGI-II) in a family, analyse tooth microstructure and evaluate functional defects in patient-derived stem cells (SHED) to explore genotype-phenotype links.<h4>Methods</h4>A 13-member family with DGI-II underwent clinical evaluation. Whole-exome sequencing (WES) and Sanger sequencing identified pathogenic variants. Exfoliated tooth was assessed via micro-CT, microhardness testing and SEM. SHEDs from patients and controls were isolated, validated for stemness (flow cytometry, adipogenic induction) and tested for proliferation (CCK-8), migration (scratch assay) and mineralisation (osteogenic induction). Expression of DSPP, RUNX2, OCN and ALP was analysed by qRT-PCR and Western blot. Green floresc"],"journal":["International dental journal"],"pagination":["100937"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12345271"],"repository":["biostudies-literature"],"pubmed_title":["A Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives."],"pmcid":["PMC12345271"],"pubmed_authors":["Gao Q","Yang J","Du Q","Liu K","Yang L","Deng Z"],"additional_accession":[]},"is_claimable":false,"name":"A Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.","description":"<h4>Introduction and aims</h4>To identify the genetic cause of dentinogenesis imperfecta type II (DGI-II) in a family, analyse tooth microstructure and evaluate functional defects in patient-derived stem cells (SHED) to explore genotype-phenotype links.<h4>Methods</h4>A 13-member family with DGI-II underwent clinical evaluation. Whole-exome sequencing (WES) and Sanger sequencing identified pathogenic variants. Exfoliated tooth was assessed via micro-CT, microhardness testing and SEM. SHEDs from patients and controls were isolated, validated for stemness (flow cytometry, adipogenic induction) and tested for proliferation (CCK-8), migration (scratch assay) and mineralisation (osteogenic induction). Expression of DSPP, RUNX2, OCN and ALP was analysed by qRT-PCR and Western blot. Green floresc","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-04-30T14:41:27.029Z","creation":"2026-04-07T16:03:34.254Z"},"accession":"S-EPMC12345271","cross_references":{"pubmed":["40763686"],"doi":["10.1016/j.identj.2025.100937"]}}