المؤلفون: Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada., Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Möller S; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Wendlandt M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Ruffier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Toutain B; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Poirier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Kritzer A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA, USA., Crunk A; GeneDx, Gaithersburg, MD 20877, USA., diMonda J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Vengoechea J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Kleinendorst L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Haelst MM; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands., Zuurbier L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands., Sulem T; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Katrínardóttir H; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Friðriksdóttir R; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Sulem P; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Stefansson K; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Jonsdottir B; Childrens Hospital Hringurinn, National University Hospital of Iceland, Reykjavik, Iceland., Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Naveh N; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Isikay S; Division of Pediatric Neurology, Department of Pediatrics, Gaziantep Islam, Science and Technology University Faculty of Medicine, Gaziantep, Türkiye., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX 77030, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Nizon M; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., McWalter K; GeneDx, Gaithersburg, MD 20877, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany. Electronic address: elke.krueger@uni-greifswald.de., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Ebstein F; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany. Electronic address: frederic.ebstein@univ-nantes.fr.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1352-1369. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Drosophila melanogaster*/genetics , Intellectual Disability*/genetics , Neurodevelopmental Disorders*/genetics , Obesity*/genetics , Proteasome Endopeptidase Complex*/genetics , Proteasome Endopeptidase Complex*/metabolism, Adolescent ; Animals ; Child ; Child, Preschool ; Female ; Humans ; Male ; Interferons/metabolism ; Interferons/genetics ; Loss of Function Mutation ; Phenotype

المؤلفون: Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bie I, Wegler M, Jamra RA, Kamphausen SB, Bothe V, Busch LM, Völker U, Hammer E, Wende K, Cogné B, Isidor B, Meiler J, Bosc-Rosati A, Marcoux J, Bousquet MP, Poschmann J, Laumonnier F, Hildebrand PW, Eichler EE, McWalter K, Krawitz PM, Droit A, Elgersma Y, Grabrucker AM, Bolduc FV, Bézieau S, Ebstein F, Krüger E

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jan 26. Date of Electronic Publication: 2024 Jan 26.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany., Alehashemi S; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Piotto DGP; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil., Kozlova A; Department of Immunology, D.Rogachev National Medical and Research Center for Pediatric Hematology, Oncology, and Immunology, Moscow, Russia., Terreri MT; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil., Shcherbina A; Department of Immunology, D.Rogachev National Medical and Research Center for Pediatric Hematology, Oncology, and Immunology, Moscow, Russia., Rastegar A; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Rodrigues M; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil., Pereira R; Department of Pediatrics, Universidade Federal de Ciencias da Saude de Porto Alegre, Porto Alegre, Brazil., Park S; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Lin B; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Uss K; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Möller S; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany., da Silva Pina AF; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil., Sztajnbok F; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil., Torreggiani S; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Niemela J; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States., Stoddard J; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States., Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., McNinch C; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., de Guzman MM; Section of Pediatric Rheumatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States., Fonseca A; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil., Micheloni N; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil., Fraga MM; Division of Pediatric Rheumatology, Department of Pediatrics, Universidade Federal de São Paulo (Unifesp), São Paulo, Brazil., Perazzio SF; Division of Rheumatology - Department of Medicine, Universidade Federal de São Paulo (Unifesp), Sao Paulo, Brazil., Goldbach-Mansky R; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., de Jesus AA; Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany.

المصدر: Frontiers in immunology [Front Immunol] 2023 Aug 04; Vol. 14, pp. 1190104. Date of Electronic Publication: 2023 Aug 04 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Proteasome Endopeptidase Complex*/genetics , Dermatitis*, Humans ; Syndrome ; Cytoplasm

SCR Disease Name: Nakajo syndrome

المؤلفون: Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Most V; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada., Scott-Boyer MP; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Golnik R; Klinik für Pädiatrie I, Universitätsklinikum Halle (Saale), 06120 Halle (Saale), Germany., Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Forster C; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., de Konink C; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Teurlings SMW; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Ades L; Department of Clinical Genetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, 75013 Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, 75013, Paris, France., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, Netherlands., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Yang S; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Hannig V; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Brault JA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, CA 92868, USA., Bennetts B; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, 2145, Australia., Keren B; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Gélineau AC; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Powis Z; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Towne M; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Bachman K; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Seeley A; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Beck AE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98195-6320, USA., Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID 83712, USA., Averill K; Department of Pediatrics, Division of Pediatric Neurology, UT Health Science Center at San Antonio, San Antonio, TX 78229, USA., Brunet T; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Haasters J; Klinikum der Universität München, Integriertes Sozialpädiatrisches Zentrum, 80337 Munich, Germany., Carter MT; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Forzano F; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Mohammed S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Trakadis Y; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Accogli A; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Harrison R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, City Hospital Campus, the Gables, Gate 3, Hucknall Road, Nottingham NG5 1PB, UK., Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Baujat G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Preisel M; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Laumonnier F; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, 37032 Tours, France., Kallinich T; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.; Deutsches Rheumaforschungszentrum, an institute of the Leibniz Association, Berlin and Berlin Institute of Health, 10117 Berlin, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Droit A; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Elgersma Y; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany.; Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, 10178 Berlin, Germany., Bolduc F; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.

المصدر: Science translational medicine [Sci Transl Med] 2023 May 31; Vol. 15 (698), pp. eabo3189. Date of Electronic Publication: 2023 May 31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Interferon Type I* , Proteasome Endopeptidase Complex*/metabolism, Animals ; Humans ; Mice ; Adenosine Triphosphatases/genetics ; Drosophila melanogaster ; Gene Expression ; Proteomics

المؤلفون: Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.

المصدر: Cells [Cells] 2022 Apr 22; Vol. 11 (9). Date of Electronic Publication: 2022 Apr 22.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Hereditary Autoinflammatory Diseases*/etiology , Hereditary Autoinflammatory Diseases*/metabolism , Proteostasis*, Humans ; Immunity, Innate ; Inflammation/metabolism ; Proteome/metabolism

المؤلفون: Verhoeven D; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Schonenberg-Meinema D; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Baars PA; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van Leeuwen EMM; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Jansen MH; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Lankester AC; Department of Pediatrics, Pediatric Stem Cell Transplantation Program, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden University, Leiden, The Netherlands., van der Burg M; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden University, Leiden, The Netherlands., Florquin S; Department of Pathology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Maas SM; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van Koningsbruggen S; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., van den Berg JM; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: t.w.kuijpers@amsterdamumc.nl.

المصدر: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2022 Mar; Vol. 149 (3), pp. 1120-1127.e8. Date of Electronic Publication: 2021 Aug 17.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Hematopoietic Stem Cell Transplantation* , Lipodystrophy*/genetics, Child ; Humans ; Male ; Proteasome Endopeptidase Complex/genetics ; Retrospective Studies ; Syndrome

المؤلفون: Ebstein F; Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany., Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France.; l'Institut du Thorax, CNRS, INSERM, CHU Nantes, Université de Nantes, Nantes, France., Papendorf JJ; Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany., Krüger E; Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany.

المصدر: Frontiers in molecular neuroscience [Front Mol Neurosci] 2021 Sep 08; Vol. 14, pp. 733012. Date of Electronic Publication: 2021 Sep 08 (Print Publication: 2021).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE