{"database":"ENA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"center_name":["Universtiy of Tokyo"],"full_dataset_link":["https://www.ebi.ac.uk/ena/browser/view/PRJNA854919"],"scientific_name":["Mus musculus"],"long_description":["Phosphatidylserine (PS) is an acidic phospholipid that is involved in various cellular events. Heterologous dominant mutations have been identified in the gene encoding PS synthase 1 (PSS1) in patients of a congenital disease called Lenz-Majewski syndrome (LMS). LMS patients show various symptoms, including craniofacial/distal-limb bone dysplasia and progressive hyperostosis. The LMS-causing gain-of-function mutants of PSS1 (PSS1-LMS) have been shown to synthesize PS without control, but why the uncontrolled synthesis would lead to LMS is unknown. We investigated the effect of PSS1-LMS(Q353R) on osteoclasts to elucidate the causative mechanism of LMS and found that PSS1-LMS inhibited the formation, multinucleation, and activity of osteoclasts. We used microarrays to comprehensively examine the effects of PSS1-LMS on osteoclast gene expression. Overall design: Bone marrow cells were treated with MCSF alone or MCSF and RANKL and infected one day later with a retroviral vector expressing wild-type or mutant PSS1. Cells were collected for microarray analysis on days 3 and 6 after MCSF/RANKL treatment."],"repository":["ENA"],"name_synonyms":["data, skin peeling, familial continuous generalized, SPAP14E8.01c, BIMP2, PRP, A4, NG., ssp1, TYPE, LMHD, LGMD2C, DAGA4, RC3, PSS1, Pss1, medulla ossium, R75334, Marrow, medulla ossea, AI838505, PSS, 0710001B06Rik, PSSA, Yellow, deciduous skin, MAM, Odontoclasts, SCG3, keratolysis exfoliativa congenita, Yellow Marrow, DMDA1, Osteoclast, medullary bone, medulla of bone, HTSS, familial continuous generalised, S, NG/RC3, Odontoclast, HTSS1, HYPT2, Red Marrow, PSORS2, NG|RC3, Cementoclasts, CARMA2, DMDA, Cementoclast, SCARMD2, peeling skin syndrome 1, Red, Bone"],"description_synonyms":["data, skin peeling, familial continuous generalized, SPAP14E8.01c, BIMP2, PRP, A4, NG., ssp1, TYPE, LMHD, LGMD2C, DAGA4, RC3, PSS1, Pss1, medulla ossium, R75334, Marrow, medulla ossea, AI838505, PSS, 0710001B06Rik, PSSA, Yellow, deciduous skin, MAM, Odontoclasts, SCG3, keratolysis exfoliativa congenita, Yellow Marrow, DMDA1, Osteoclast, medullary bone, medulla of bone, HTSS, familial continuous generalised, S, NG/RC3, Odontoclast, HTSS1, HYPT2, Red Marrow, PSORS2, NG|RC3, Cementoclasts, CARMA2, DMDA, Cementoclast, SCARMD2, peeling skin syndrome 1, Red, Bone"],"additional_accession":[]},"is_claimable":false,"name":"Expression data of bone marrow-derived osteoclasts expressing wild-type or mutant PSS1","description":"Expression data of bone marrow-derived osteoclasts expressing wild-type or mutant PSS1","dates":{"last_updated":"2025-09-24","first_public":"2022-07-06"},"accession":"PRJNA854919","cross_references":{"GEO":["GSE207351"],"taxon":["10090"]}}