{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhang X"],"funding":["National Natural Science Foundation of China"],"pagination":["625492"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7820765"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8"],"pubmed_abstract":["<h4>Background</h4>Cryptophthalmos is characterized by congenital ocular dysplasia with eyelid malformation. The pathogenicity of mutations in genes encoding components of the FRAS1/FREM protein complex is well established, but the underlying pathomechanisms of this disease are still unclear. In the previous study, we generated mice carrying <i>Frem2</i> <sup><i>R725X/R2156W</i></sup> compound heterozygous mutations using CRISPR/Cas9 and showed that these mice recapitulated the human cryptophthalmos phenotype.<h4>Methods</h4>In this study, we tracked changes in the metabolic profile of embryos and expression of metabolism-related genes in <i>Frem2</i> mutant mice on E13.5 compared with wild-type mice. RNA sequencing (RNA-seq) was utilized to decipher the differentiated expression of genes "],"journal":["Frontiers in cell and developmental biology"],"pubmed_title":["The Metabolic Reprogramming of <i>Frem2</i> Mutant Mice Embryos in Cryptophthalmos Development."],"pmcid":["PMC7820765"],"funding_grant_id":["81770967","91546101"],"pubmed_authors":["Li W","Dongye M","Wang R","Lin D","Zhang X","Wang T","Wang D","Lin H","Wang J","Wu X"],"additional_accession":[]},"is_claimable":false,"name":"The Metabolic Reprogramming of <i>Frem2</i> Mutant Mice Embryos in Cryptophthalmos Development.","description":"<h4>Background</h4>Cryptophthalmos is characterized by congenital ocular dysplasia with eyelid malformation. The pathogenicity of mutations in genes encoding components of the FRAS1/FREM protein complex is well established, but the underlying pathomechanisms of this disease are still unclear. In the previous study, we generated mice carrying <i>Frem2</i> <sup><i>R725X/R2156W</i></sup> compound heterozygous mutations using CRISPR/Cas9 and showed that these mice recapitulated the human cryptophthalmos phenotype.<h4>Methods</h4>In this study, we tracked changes in the metabolic profile of embryos and expression of metabolism-related genes in <i>Frem2</i> mutant mice on E13.5 compared with wild-type mice. RNA sequencing (RNA-seq) was utilized to decipher the differentiated expression of genes ","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020","modification":"2026-05-04T23:49:33.829Z","creation":"2021-02-21T03:05:09Z"},"accession":"S-EPMC7820765","cross_references":{"pubmed":["33490088"],"doi":["10.3389/fcell.2020.625492"]}}