{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["20(19)"],"submitter":["Jirsa M"],"pubmed_abstract":["<h4>Aim</h4>To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance protein 3 deficiency.<h4>Methods</h4>Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional fami"],"journal":["World journal of gastroenterology"],"pagination":["5867-74"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4024796"],"repository":["biostudies-literature"],"pubmed_title":["ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones."],"pmcid":["PMC4024796"],"pubmed_authors":["Horak J","Sperl J","Smajstrla V","Bronsky J","Dvorakova L","Jirsa M","Nevoral J","Hrebicek M"],"additional_accession":[]},"is_claimable":false,"name":"ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.","description":"<h4>Aim</h4>To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance protein 3 deficiency.<h4>Methods</h4>Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional fami","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 May","modification":"2025-06-01T01:33:28.78Z","creation":"2019-03-27T01:28:26Z"},"accession":"S-EPMC4024796","cross_references":{"pubmed":["24914347"],"doi":["10.3748/wjg.v20.i19.5867"]}}