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Akademický článek
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Akademický článek
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Autor:
Schneider, Carolin V.1,2 (AUTHOR), Strnad, Pavel2 (AUTHOR) pstrnad@ukaachen.de
Publikováno v:
Alimentary Pharmacology & Therapeutics. Mar2021, Vol. 53 Issue 5, p656-656. 1p.
Autor:
Schneider, Carolin V., Schneider, Kai Markus, Conlon, Donna M., Park, Joseph, Vujkovic, Marijana, Zandvakili, Inuk, Ko, Yi-An, Trautwein, Christian, Carr, Rotonya M., Strnad, Pavel, Thaiss, Christoph A., Rader, Daniel J.
Publikováno v:
Med; July 2021, Vol. 2 Issue: 7 p851-863.e3
Autor:
Carolin V. Schneider, Malin Fromme, Pavel Strnad, Christian Trautwein, Nicola Brunetti-Pierri
Publikováno v:
Journal of hepatology. 76(4)
Alpha-1 antitrypsin deficiency (AATD) arises from mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT) that lead to AAT retention in the endoplasmic reticulum of hepatocytes, causing proteotoxic liver injury and loss-of-function lung dis
Autor:
Scorletti E; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Saiman Y; Department of Hepatology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA., Jeon S; Department of Food Science and Nutrition, Hallym University, Chuncheon, Gangwon-do, Republic of Korea., Schneider CV; Department of Medicine III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany., Buyco DG; Department of Biomedical Engineering, Northwestern University, Evanston, IL, USA., Lin C; School of Medicine, Oregon Health & Science University, Portland, OR, USA., Himes BE; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Mesaros CA; Department of Systems Pharmacology and Translational Therapeutics (SPATT) University of Pennsylvania, Philadelphia, PA, USA., Vujkovic M; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Creasy KT; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Furth EE; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Billheimer JT; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Hand NJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kaplan DE; Division of Gastroenterology and Hepatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Chang KM; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Tsao PS; Precision Medicine, VA Palo Alto Health Care System, Palo Alto, CA, USA., Lynch JA; VA Informatics & Computing Infrastructure, VA Salt Lake City Utah & University of Utah, School of Medicine, Salt Lake City, UT, USA., Dempsey JL; Division of Gastroenterology, Department of Medicine, School of Medicine, University of Washington, Seattle, WA, USA., Harkin J; Division of Gastroenterology, Department of Medicine, School of Medicine, University of Washington, Seattle, WA, USA., Bayen S; Division of Gastroenterology, Department of Medicine, School of Medicine, University of Washington, Seattle, WA, USA., Conlon D; Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania, PA, USA., Guerraty M; Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania, PA, USA., Phillips MC; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Rader DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Carr RM; Division of Gastroenterology, Department of Medicine, School of Medicine, University of Washington, Seattle, WA, USA.
Publikováno v:
JHEP reports : innovation in hepatology [JHEP Rep] 2023 Oct 11; Vol. 6 (1), pp. 100902. Date of Electronic Publication: 2023 Oct 11 (Print Publication: 2024).
Autor:
Wizenty J; Department of Hepatology and Gastroenterology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Koop PH; Department for Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany., Clusmann J; Department for Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany., Tacke F; Department of Hepatology and Gastroenterology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Trautwein C; Department for Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany., Schneider KM; Department for Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany., Sigal M; Department of Hepatology and Gastroenterology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Schneider CV; Department for Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany.
Publikováno v:
Clinical and translational gastroenterology [Clin Transl Gastroenterol] 2023 Sep 01; Vol. 14 (9), pp. e00610. Date of Electronic Publication: 2023 Sep 01.
Autor:
Vujkovic M; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Ramdas S; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Lorenz KM; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Darlay R; Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK., Cordell HJ; Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK., He J; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Gindin Y; Gilead Sciences, Inc., Foster City, CA, USA., Chung C; Gilead Sciences, Inc., Foster City, CA, USA., Myers RP; Gilead Sciences, Inc., Foster City, CA, USA.; The Liver Company, Palo Alto, CA, USA., Schneider CV; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Park J; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Lee KM; VA Salt Lake City Health Care System, Salt Lake City, UT, USA., Serper M; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Carr RM; Division of Gastroenterology, University of Washington, Seattle, WA, USA., Kaplan DE; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Haas ME; Broad Institute of MIT and Harvard, Cambridge, MA, USA., MacLean MT; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Witschey WR; Department of Radiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Zhu X; VA Palo Alto Health Care System, Palo Alto, CA, USA.; Department of Statistics, The Pennsylvania State University, University Park, PA, USA.; Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, PA, USA.; Department of Statistics, Stanford University, Stanford, CA, USA., Tcheandjieu C; VA Palo Alto Health Care System, Palo Alto, CA, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Kember RL; Mental Illness Research Education and Clinical Center, Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Kranzler HR; Mental Illness Research Education and Clinical Center, Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Verma A; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Giri A; Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA., Klarin DM; VA Palo Alto Health Care System, Palo Alto, CA, USA.; Division of Vascular Surgery, Stanford University School of Medicine, Palo Alto, CA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sun YV; Atlanta VA Medical Center, Decatur, GA, USA.; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA., Huang J; School of Public Health and Emergency Management, Southern University of Science and Technology, Shenzhen, Guangdong, China., Huffman JE; VA Boston Healthcare System, Boston, MA, USA., Creasy KT; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Hand NJ; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Liu CT; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Long MT; Department of Medicine, Section of Gastroenterology, Boston University School of Medicine, Boston, MA, USA., Yao J; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Budoff M; Department of Cardiology, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Tan J; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Li X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Lin HJ; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Chen YI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Chang RK; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Krauss RM; Departments of Pediatrics and Medicine, University of California, San Francisco, San Francisco, CA, USA., Vilarinho S; Section of Digestive Diseases, Department of Internal Medicine, and Department of Pathology, Yale School of Medicine, New Haven, CT, USA., Brancale J; Section of Digestive Diseases, Department of Internal Medicine, and Department of Pathology, Yale School of Medicine, New Haven, CT, USA., Nielsen JB; Regeneron Genetics Center, Tarrytown, NY, USA., Locke AE; Regeneron Genetics Center, Tarrytown, NY, USA., Jones MB; Regeneron Genetics Center, Tarrytown, NY, USA., Verweij N; Regeneron Genetics Center, Tarrytown, NY, USA., Baras A; Regeneron Genetics Center, Tarrytown, NY, USA., Reddy KR; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Neuschwander-Tetri BA; Department of Internal Medicine, Saint Louis University, St. Louis, MO, USA., Schwimmer JB; Department of Pediatrics, University of California San Diego, La Jolla, CA, USA., Sanyal AJ; Department of Internal Medicine, Virginia Commonwealth University School of Medicine, Richmond, VA, USA., Chalasani N; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA., Ryan KA; Program for Personalized and Genomic Medicine, Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Mitchell BD; Program for Personalized and Genomic Medicine, Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Gill D; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK., Wells AD; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Manduchi E; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Saiman Y; Department of Medicine, Section of Hepatology, Lewis Katz School of Medicine at Temple University, Temple University Hospital, Philadelphia, PA, USA., Mahmud N; Department of Medicine, Division of Gastroenterology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Miller DR; Center for Healthcare Organization and Implementation Research, Bedford VA Healthcare System, Bedford, MA, USA.; Center for Population Health, Department of Biomedical and Nutritional Sciences, University of Massachusetts, Lowell, MA, USA., Reaven PD; Phoenix VA Health Care System, Phoenix, AZ, USA.; College of Medicine, University of Arizona, Phoenix, AZ, USA., Phillips LS; Atlanta VA Medical Center, Decatur, GA, USA.; Division of Endocrinology, Emory University School of Medicine, Atlanta, GA, USA., Muralidhar S; Office of Research and Development, Veterans Health Administration, Washington, DC, USA., DuVall SL; VA Salt Lake City Health Care System, Salt Lake City, UT, USA.; Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA., Lee JS; VA Palo Alto Health Care System, Palo Alto, CA, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Assimes TL; VA Palo Alto Health Care System, Palo Alto, CA, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA., Pyarajan S; VA Boston Healthcare System, Boston, MA, USA.; Department of Medicine, Brigham Women's Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Cho K; VA Boston Healthcare System, Boston, MA, USA.; Department of Medicine, Brigham Women's Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Edwards TL; Nashville VA Medical Center, Nashville, TN, USA.; Division of Epidemiology, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Damrauer SM; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Department of Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Wilson PW; Atlanta VA Medical Center, Decatur, GA, USA.; Division of Cardiology, Emory University School of Medicine, Atlanta, GA, USA., Gaziano JM; VA Boston Healthcare System, Boston, MA, USA.; Department of Medicine, Brigham Women's Hospital, Boston, MA, USA., O'Donnell CJ; VA Boston Healthcare System, Boston, MA, USA.; Department of Medicine, Brigham Women's Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Khera AV; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Grant SFA; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Brown CD; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Tsao PS; VA Palo Alto Health Care System, Palo Alto, CA, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA., Saleheen D; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Cardiology, Columbia University Irving Medical Center, New York, NY, USA.; Center for Non-Communicable Diseases, Karachi, Sindh, Pakistan., Lotta LA; Regeneron Genetics Center, Tarrytown, NY, USA., Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Anstee QM; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Newcastle NIHR Biomedical Research Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Daly AK; Newcastle NIHR Biomedical Research Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Meigs JB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Lynch JA; VA Salt Lake City Health Care System, Salt Lake City, UT, USA.; Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA.; College of Nursing and Health Sciences, University of Massachusetts, Lowell, MA, USA., Rader DJ; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Voight BF; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA. bvoight@pennmedicine.upenn.edu.; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. bvoight@pennmedicine.upenn.edu.; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. bvoight@pennmedicine.upenn.edu.; Institute of Translational Medicine and Therapeutics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. bvoight@pennmedicine.upenn.edu., Chang KM; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA. kmchang@pennmedicine.upenn.edu.; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. kmchang@pennmedicine.upenn.edu.
Publikováno v:
Nature genetics [Nat Genet] 2022 Jun; Vol. 54 (6), pp. 761-771. Date of Electronic Publication: 2022 Jun 02.
Autor:
Schneider CV; Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany., Hamesch K; Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany; Coordinating Center for Alpha-1 Antitrypsin Deficiency-related Liver Disease of the European Reference Network (ERN) 'Rare Liver' and the European Association for the Study of the Liver (EASL) registry group 'Alpha-1 Liver'., Strnad P; Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany; Coordinating Center for Alpha-1 Antitrypsin Deficiency-related Liver Disease of the European Reference Network (ERN) 'Rare Liver' and the European Association for the Study of the Liver (EASL) registry group 'Alpha-1 Liver'.
Publikováno v:
Gastroenterology [Gastroenterology] 2021 Apr; Vol. 160 (5), pp. 1875-1877. Date of Electronic Publication: 2021 Jan 05.