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Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway.

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Title: Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway.
Authors: Gaigne LP; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France., Besnard C; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France., Debeaupuis O; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.; CNRS UMR168, Institut Curie, Paris, France., Degtiar A; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France., Nhat DH; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France., Stolzenberg MC; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France., Camara F; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Cite University, Paris, France., Pellé O; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France., Schvartz A; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France., Perin M; Bioinformatics Core Facility, Paris-Cité University-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France., Almes M; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France., Darmellah-Remil A; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France., Gonzales E; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France., Gardin A; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France., Habes D; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France., Destombe S; Faculté de médecine Jacques-Lisfranc, Saint-Étienne, France., De Martin E; APHP, Centre Hépato-Biliaire, Paul Brousse Hospital, INSERM UMR 1193, Univ Paris-Saclay, ERN RARE LIVER, Villejuif, France., Duclos-Vallée JC; APHP, Centre Hépato-Biliaire, Paul Brousse Hospital, INSERM UMR 1193, Univ Paris-Saclay, ERN RARE LIVER, Villejuif, France., Arkwright PD; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, UK., Rieux-Laucat F; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France., Jacquemin E; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France., Magerus A; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Source: Gastro hep advances [Gastro Hep Adv] 2025 Sep 16; Vol. 5 (1), pp. 100808. Date of Electronic Publication: 2025 Sep 16 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc on behalf of the AGA Institute Country of Publication: Netherlands NLM ID: 9918350485906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2772-5723 (Electronic) Linking ISSN: 27725723 NLM ISO Abbreviation: Gastro Hep Adv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway.
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  Data: <searchLink fieldCode="AU" term="%22Gaigne+LP%22">Gaigne LP</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.<br /><searchLink fieldCode="AU" term="%22Besnard+C%22">Besnard C</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.<br /><searchLink fieldCode="AU" term="%22Debeaupuis+O%22">Debeaupuis O</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.; CNRS UMR168, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Degtiar+A%22">Degtiar A</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nhat+DH%22">Nhat DH</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stolzenberg+MC%22">Stolzenberg MC</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.<br /><searchLink fieldCode="AU" term="%22Camara+F%22">Camara F</searchLink>; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Cite University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pellé+O%22">Pellé O</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.<br /><searchLink fieldCode="AU" term="%22Schvartz+A%22">Schvartz A</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.<br /><searchLink fieldCode="AU" term="%22Perin+M%22">Perin M</searchLink>; Bioinformatics Core Facility, Paris-Cité University-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.<br /><searchLink fieldCode="AU" term="%22Almes+M%22">Almes M</searchLink>; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France.<br /><searchLink fieldCode="AU" term="%22Darmellah-Remil+A%22">Darmellah-Remil A</searchLink>; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.<br /><searchLink fieldCode="AU" term="%22Gonzales+E%22">Gonzales E</searchLink>; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France.<br /><searchLink fieldCode="AU" term="%22Gardin+A%22">Gardin A</searchLink>; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France.<br /><searchLink fieldCode="AU" term="%22Habes+D%22">Habes D</searchLink>; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France.<br /><searchLink fieldCode="AU" term="%22Destombe+S%22">Destombe S</searchLink>; Faculté de médecine Jacques-Lisfranc, Saint-Étienne, France.<br /><searchLink fieldCode="AU" term="%22De+Martin+E%22">De Martin E</searchLink>; APHP, Centre Hépato-Biliaire, Paul Brousse Hospital, INSERM UMR 1193, Univ Paris-Saclay, ERN RARE LIVER, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Duclos-Vallée+JC%22">Duclos-Vallée JC</searchLink>; APHP, Centre Hépato-Biliaire, Paul Brousse Hospital, INSERM UMR 1193, Univ Paris-Saclay, ERN RARE LIVER, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Arkwright+PD%22">Arkwright PD</searchLink>; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Rieux-Laucat+F%22">Rieux-Laucat F</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.<br /><searchLink fieldCode="AU" term="%22Jacquemin+E%22">Jacquemin E</searchLink>; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.; INSERM UMR 1193, Hepatinov, University Paris-Saclay, Orsay, France.<br /><searchLink fieldCode="AU" term="%22Magerus+A%22">Magerus A</searchLink>; Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%229918350485906676%22">Gastro hep advances</searchLink> [Gastro Hep Adv] 2025 Sep 16; Vol. 5 (1), pp. 100808. <i>Date of Electronic Publication: </i>2025 Sep 16 (<i>Print Publication: </i>2026).
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