{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["25(11-12)"],"submitter":["Drummond JB"],"pubmed_abstract":["<h4>Purpose</h4>To study the beta-catenin gene in a group of Mayer-Rokitansky-Küster-Hauser patients.<h4>Methods</h4>Twelve patients with the Mayer-Rokitansky-Küster-Hauser syndrome were included in this study. DNA was extracted from peripheral blood and the region codifying beta-catenin GSK-3beta phosphorylation sites on exon 3 was amplified. PCR products were purified and directly sequenced.<h4>Results</h4>No mutations were found in the GSK-3beta phosphorylation sites on exon 3 of beta-catenin gene in this group of patients with the MRKH syndrome.<h4>Conclusions</h4>beta-catenin gene mutations are an unlikely cause of the MRKH syndrome."],"journal":["Journal of assisted reproduction and genetics"],"pagination":["511-4"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2593771"],"repository":["biostudies-literature"],"pubmed_title":["Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome."],"pmcid":["PMC2593771"],"pubmed_authors":["Carvalho JS","De Marco L","Drummond JB","Rezende CF","Peixoto FC","Reis FM"],"additional_accession":[]},"is_claimable":false,"name":"Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome.","description":"<h4>Purpose</h4>To study the beta-catenin gene in a group of Mayer-Rokitansky-Küster-Hauser patients.<h4>Methods</h4>Twelve patients with the Mayer-Rokitansky-Küster-Hauser syndrome were included in this study. DNA was extracted from peripheral blood and the region codifying beta-catenin GSK-3beta phosphorylation sites on exon 3 was amplified. PCR products were purified and directly sequenced.<h4>Results</h4>No mutations were found in the GSK-3beta phosphorylation sites on exon 3 of beta-catenin gene in this group of patients with the MRKH syndrome.<h4>Conclusions</h4>beta-catenin gene mutations are an unlikely cause of the MRKH syndrome.","dates":{"release":"2008-01-01T00:00:00Z","publication":"2008 Nov-Dec","modification":"2025-06-01T01:15:22.33Z","creation":"2025-06-01T01:15:22.33Z"},"accession":"S-EPMC2593771","cross_references":{"pubmed":["18979195"],"doi":["10.1007/s10815-008-9261-y"]}}