{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["1(2)"],"submitter":["Gravemann S"],"pubmed_abstract":["The Lamin B receptor (LBR) is a pivotal architectural protein in the nuclear envelope. Mutations in the Lamin B receptor lead to nuclear hyposegmentation (Pelger-Huët anomaly). We have exactly quantified the nuclear lobulation in neutrophils from individuals with 0, 1, 2 and 3 functional copies of the lamin B receptor gene and analyzed the effect of different mutation types. Our data demonstrate that there is a highly significant gene-dosage effect between the gene copy number and the nuclear segmentation index of neutrophils. This finding is paralleled by a dose-dependent increase in LBR protein and staining intensity of the nuclear membrane in corresponding lymphoblastoid cell lines, which demonstrates a significant correlation on the protein level as well. We further show that LBR expre"],"journal":["Nucleus (Austin, Tex.)"],"pagination":["179-89"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3030694"],"repository":["biostudies-literature"],"pubmed_title":["Dosage effect of zero to three functional LBR-genes in vivo and in vitro."],"pmcid":["PMC3030694"],"pubmed_authors":["Vaya A","Meyer H","Sperling K","Schnipper N","Neitzel H","Nowaczyk MJ","Tonnies H","Hoffmann K","Rajab A","Gravemann S","Hofmann WK","Stassen HH","Salewsky B"],"additional_accession":[]},"is_claimable":false,"name":"Dosage effect of zero to three functional LBR-genes in vivo and in vitro.","description":"The Lamin B receptor (LBR) is a pivotal architectural protein in the nuclear envelope. Mutations in the Lamin B receptor lead to nuclear hyposegmentation (Pelger-Huët anomaly). We have exactly quantified the nuclear lobulation in neutrophils from individuals with 0, 1, 2 and 3 functional copies of the lamin B receptor gene and analyzed the effect of different mutation types. Our data demonstrate that there is a highly significant gene-dosage effect between the gene copy number and the nuclear segmentation index of neutrophils. This finding is paralleled by a dose-dependent increase in LBR protein and staining intensity of the nuclear membrane in corresponding lymphoblastoid cell lines, which demonstrates a significant correlation on the protein level as well. We further show that LBR expre","dates":{"release":"2010-01-01T00:00:00Z","publication":"2010 Mar-Apr","modification":"2026-04-16T21:18:23.124Z","creation":"2026-04-07T14:18:11.044Z"},"accession":"S-EPMC3030694","cross_references":{"pubmed":["21326950"],"doi":["10.4161/nucl.11113","10.4161/nucl.1.2.11113"]}}