{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kamp JC"],"funding":["Deutsche Forschungsgemeinschaft","Stichting Marcel Brus Fonds"],"pagination":["2485"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9916468"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(3)"],"pubmed_abstract":["PiZZ (Glu342Lys) α1-antitrypsin deficiency (AATD) is characterized by intrahepatic AAT polymerization and is a risk factor for liver disease development in children. The majority of PiZZ children are disease free, hence this mutation alone is not sufficient to cause the disease. We investigated Z-AAT polymers and the expression of fibrosis-related genes in liver tissues of PiZZ children with different clinical courses. Liver biopsies obtained during 1979-2010 at the Department of Paediatrics, Karolinska University Hospital, Sweden, were subjected to histological re-evaluation, immunohistochemistry and NanoString-based transcriptome profiling using a panel of 760 fibrosis plus 8 bile acid-related genes. Subjects were divided into three groups based on clinical outcomes: NCH (neonatal choles"],"journal":["International journal of molecular sciences"],"pubmed_title":["Fibrosis-Related Gene Profiling in Liver Biopsies of PiZZ α1-Antitrypsin Children with Different Clinical Courses."],"pmcid":["PMC9916468"],"funding_grant_id":["STR1095/6-1","RSIN 860974376"],"pubmed_authors":["Janciauskiene S","Fuge J","Kuehnel MP","Khedoe PPSJ","Moro CF","Strnad P","Kamp JC","Hoek BV","Wrenger S","Bjornstedt M","Stolk J","Nemeth A","Welte T","Kappe NN","Jonigk DD"],"additional_accession":[]},"is_claimable":false,"name":"Fibrosis-Related Gene Profiling in Liver Biopsies of PiZZ α1-Antitrypsin Children with Different Clinical Courses.","description":"PiZZ (Glu342Lys) α1-antitrypsin deficiency (AATD) is characterized by intrahepatic AAT polymerization and is a risk factor for liver disease development in children. The majority of PiZZ children are disease free, hence this mutation alone is not sufficient to cause the disease. We investigated Z-AAT polymers and the expression of fibrosis-related genes in liver tissues of PiZZ children with different clinical courses. Liver biopsies obtained during 1979-2010 at the Department of Paediatrics, Karolinska University Hospital, Sweden, were subjected to histological re-evaluation, immunohistochemistry and NanoString-based transcriptome profiling using a panel of 760 fibrosis plus 8 bile acid-related genes. Subjects were divided into three groups based on clinical outcomes: NCH (neonatal choles","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2025-04-25T19:25:28.674Z","creation":"2025-04-06T07:57:47.666Z"},"accession":"S-EPMC9916468","cross_references":{"pubmed":["36768808"],"doi":["10.3390/ijms24032485"]}}