https://scholars.lib.ntu.edu.tw/handle/123456789/641365
標題: | Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency | 作者: | Felzen, Antonia van Wessel, Daan B E Gonzales, Emmanuel Thompson, Richard J Jankowska, Irena Shneider, Benjamin L Sokal, Etienne Grammatikopoulos, Tassos Kadaristiana, Agustina Jacquemin, Emmanuel Spraul, Anne Lipiński, Patryk Czubkowski, Piotr Rock, Nathalie Shagrani, Mohammad Broering, Dieter Nicastro, Emanuele Kelly, Deirdre Nebbia, Gabriella Arnell, Henrik Fischler, Björn Hulscher, Jan B F Serranti, Daniele Arikan, Cigdem Polat, Esra Debray, Dominique Lacaille, Florence Goncalves, Cristina Hierro, Loreto Muñoz Bartolo, Gema Mozer-Glassberg, Yael Azaz, Amer Brecelj, Jernej Dezsőfi, Antal Calvo, Pier Luigi Grabhorn, Enke Hartleif, Steffen van der Woerd, Wendy J Kamath, Binita M Wang, Jian-She Li, Liting Durmaz, Özlem Kerkar, Nanda Jørgensen, Marianne Hørby Fischer, Ryan Jimenez-Rivera, Carolina Alam, Seema Cananzi, Mara Laverdure, Noemie Ferreira, Cristina Targa Guerrero, Felipe Ordoñez Wang, Heng Sency, Valerie Kim, Kyung Mo HUEY-LING CHEN de Carvalho, Elisa Fabre, Alexandre Bernabeu, Jesus Quintero Zellos, Aglaia Alonso, Estella M Sokol, Ronald J Suchy, Frederick J Loomes, Kathleen M McKiernan, Patrick J Rosenthal, Philip Turmelle, Yumirle Horslen, Simon Schwarz, Kathleen Bezerra, Jorge A Wang, Kasper Hansen, Bettina E Verkade, Henkjan J |
關鍵字: | ABCB11, ATP-binding cassette, sub-family B member 11; ALT, alanine aminotransferase; AST, aspartate aminotransferase; BSEP; BSEP, bile salt export pump; ChiLDReN, Childhood Liver Disease Research Network; GGT, gamma-glutamyltransferase; HCC, hepatocellular carcinoma; LTx, liver transplantation; NAPPED, NAtural course and Prognosis of PFIC and Effect of biliary Diversion; NLS, native liver survival; PFIC2; PFIC2, progressive familial intrahepatic cholestasis type 2; PPTM, predicted protein truncating mutation; REDCap, Research Electronic Data Capture; TSB, total serum bilirubin; UDCA, ursodeoxycholic acid; compound heterozygosity; genotype; interruption of the enterohepatic circulation; phenotype; sBAs, serum bile acids; siEHC, surgical interruption of the enterohepatic circulation | 公開日期: | 二月-2023 | 出版社: | ELSEVIER | 卷: | 5 | 期: | 2 | 來源出版物: | JHEP reports : innovation in hepatology | 摘要: | Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with relatively mild phenotypes, responsive to surgical interruption of the enterohepatic circulation (siEHC). The phenotype of patients with a compound heterozygous genotype of one p.D482G or p.E297G mutation and one PPTM has remained unclear. We aimed to assess their genotype-phenotype relationship. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/641365 | ISSN: | 25895559 | DOI: | 10.1016/j.jhepr.2022.100626 |
顯示於: | 醫學教育暨生醫倫理學科所 |
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