Exploring the innate immune response in polycystic liver disease.

Autor: Duijzer R; Department of Gastroenterology and Hepatology, Radboudumc, Nijmegen, the Netherlands., Dalloyaux D; Department of Gastroenterology and Hepatology, Radboudumc, Nijmegen, the Netherlands., Boerrigter MM; Department of Gastroenterology and Hepatology, Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Lemmers H; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Dijkstra H; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., van Emst L; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Te Morsche RHM; Department of Gastroenterology and Hepatology, Radboudumc, Nijmegen, the Netherlands., Jaeger M; Department of Internal Medicine, Radboud University Medical Center and Radboud Community for Infectious diseases (RCI), Nijmegen, the Netherlands., Joosten LAB; Department of Internal Medicine and Radboud Community for Infectious diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Medical Genetics, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania., Drenth JPH; Department of Gastroenterology and Hepatology, Amsterdam UMC, the Netherlands; European Reference Network RARE-LIVER, Hamburg, Germany. Electronic address: joostphdrenth@cs.com.

Publikováno v: Cytokine [Cytokine] 2024 Dec; Vol. 184, pp. 156800. Date of Electronic Publication: 2024 Nov 13.

A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease.

Autor: Waddell SH; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU., Yao Y; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU.; School of Informatics, University of Edinburgh, Edinburgh EH8 9AB, UK., Olaizola P; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU.; Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute - Donostia University Hospital, University of the Basque Country (UPV/EHU), San Sebastian 20014, Spain.; Centre for Inflammation Research, Queens Medical Research Institute, University of Edinburgh, Edinburgh EH16 4TJ, UK., Walker A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU., Jarman EJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU., Gournopanos K; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU., Gradinaru A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU., Christodoulou E; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU., Gautier P; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU., Boerrigter MM; Department of Gastroenterology and Hepatology, Radboud University, Nijmegen Medical Center, 6525 GA Nijmegen, Netherlands., Cadamuro M; Department of Medicine, University of Padua, 35128 Padua, Italy., Fabris L; Department of Molecular Medicine, University of Padua, 35128 Padua, Italy.; Digestive Disease Section, Yale University School of Medicine, New Haven, CT 06510, USA., Drenth JP; Department of Gastroenterology and Hepatology, Radboud University, Nijmegen Medical Center, 6525 GA Nijmegen, Netherlands., Kendall TJ; Centre for Inflammation Research, Queens Medical Research Institute, University of Edinburgh, Edinburgh EH16 4TJ, UK., Banales JM; Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute - Donostia University Hospital, University of the Basque Country (UPV/EHU), San Sebastian 20014, Spain.; National Institute for the Study of Liver and Gastrointestinal Diseases, CIBERehd, 'Instituto de Salud Carlos III,' 28029 Madrid, Spain.; Department of Biochemistry and Genetics, School of Sciences, University of Navarra, 31008 Pamplona, Spain.; IKERBASQUE, Basque Foundation for Science, 48009 Bilbao, Spain., Khamseh A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU.; School of Informatics, University of Edinburgh, Edinburgh EH8 9AB, UK., Mill P; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU., Boulter L; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, EH4 2XU.; Cancer Research UK Scotland Centre, Institute of Genetics and Cancer, Edinburgh EH4 2XU, UK.

Publikováno v: Science translational medicine [Sci Transl Med] 2023 Sep 13; Vol. 15 (713), pp. eabq5930. Date of Electronic Publication: 2023 Sep 13.

Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.

Autor: Boerrigter MM; Department of Gastroenterology and Hepatology, Research Institute for Medical Innovation, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Te Morsche RHM; Department of Gastroenterology and Hepatology, Research Institute for Medical Innovation, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Venselaar H; Center for Molecular and Biomolecular Informatics, Research Institute for Medical Innovation, 6500 HB Nijmegen, The Netherlands., Pastoors N; Department of Gastroenterology and Hepatology, Research Institute for Medical Innovation, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Geerts AM; Department of Gastroenterology and Hepatology, Ghent University Hospital, 9000 Ghent, Belgium., Hoorens A; Department of Pathology, Ghent University Hospital, 9000 Ghent, Belgium., Drenth JPH; Department of Gastroenterology and Hepatology, Research Institute for Medical Innovation, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.

Publikováno v: Genes [Genes (Basel)] 2023 Aug 19; Vol. 14 (8). Date of Electronic Publication: 2023 Aug 19.

DLG4-related synaptopathy: a new rare brain disorder.

Autor: Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Boerrigter MM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands., Gómez-Andrés D; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Marcos-Alcalde Í; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain., Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Lovgren AK; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arpin S; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Bahrambeigi V; Greenwood Genetic Center, Greenwood, SC, USA.; Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Bisgaard AM; Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark., Bjerregaard VA; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Bruel AL; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Challman TD; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Coubes C; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., Denommé-Pichon AS; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom., Feuk L; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Gertler T; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Giorgio E; Department of Medical Sciences, University of Turin, Torino, Italy., Gruchy N; Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA., Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Soller MJ; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Landau YE; Leumit Health Care Services, Tel-Aviv, Israel.; Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., MacKenzie A; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Mandrile G; Thalassemia Centre and Genetic Unit, San Luigi University Hospital, Orbassano, Italy., Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA., Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Morton JE; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, United Kingdom., Moutton S; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., O'Leary M; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pacio-Míguez M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Parikh S; Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, OH, USA., Pfundt R; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Repnikova E; Division of Clinical Laboratory Genetics & Genomics, Children's Mercy Hospital, Kansas City, MO, USA., Revah-Politi A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA., Ross MJ; Department of Pediatrics, Columbia University Medical Center, NewYork-Presbyterian Hospital, New York, NY, USA., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sarrazin E; Centre de Référence des Maladies rares neuromusculaires AOC, Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique., Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Schönewolf-Greulich B; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Shad Z; Cook Children's Medical Center Genetics, Fort Worth, TX, USA., Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Shohat M; Bioinformatics unit, Cancer Research Center, Sheba Medical Center and Sackler Medical Center, Tel Aviv University and Maccabi HMO, Tel Aviv, Israel., Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany., Thiese H; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Mau-Them FT; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van Drie E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Vitobello A; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Whiting S; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Reiter SF; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Gómez-Puertas P; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 888-899. Date of Electronic Publication: 2021 Feb 17.