Your browser doesn't support javascript.
loading
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein, Frédéric; Küry, Sébastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M; Besnard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M W; Vignard, Virginie; van Jaarsveld, Richard H; Ades, Lesley; Cogné, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C J; Cole, F Sessions; van den Boogaard, Marie-José H; Wambach, Jennifer A; Wegner, Daniel J; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gélineau, Anne-Claire; Powis, Zöe; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T; Osmond, Matthew; Wheeler, Patricia G; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis.
Afiliación
  • 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.
  • Most V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Rosenfelt C; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany.
  • Scott-Boyer MP; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.
  • van Woerden GM; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada.
  • Besnard T; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.
  • Papendorf JJ; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.
  • Studencka-Turski M; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.
  • Wang T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.
  • Hsieh TC; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Golnik R; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.
  • Baldridge D; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.
  • Forster C; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • de Konink C; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.
  • Teurlings SMW; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.
  • Vignard V; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.
  • van Jaarsveld RH; Klinik für Pädiatrie I, Universitätsklinikum Halle (Saale), 06120 Halle (Saale), Germany.
  • Ades L; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.
  • Cogné B; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Mignot C; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.
  • Deb W; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.
  • Jongmans MCJ; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.
  • Cole FS; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.
  • van den Boogaard MH; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.
  • Wambach JA; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Wegner DJ; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.
  • Yang S; Department of Clinical Genetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Hannig V; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.
  • Brault JA; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.
  • Zadeh N; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Bennetts B; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, 75013 Paris, France.
  • Keren B; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, 75013, Paris, France.
  • Gélineau AC; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.
  • Powis Z; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Towne M; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.
  • Bachman K; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, Netherlands.
  • Seeley A; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.
  • Beck AE; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.
  • Morrison J; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.
  • Westman R; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.
  • Averill K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Brunet T; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Haasters J; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Carter MT; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, CA 92868, USA.
  • Osmond M; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.
  • Wheeler PG; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.
  • Forzano F; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.
  • Mohammed S; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.
  • Trakadis Y; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA.
Sci Transl Med ; 15(698): eabo3189, 2023 05 31.
Article en En | MEDLINE | ID: mdl-37256937
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Interferón Tipo I / Complejo de la Endopetidasa Proteasomal Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Sci Transl Med Asunto de la revista: CIENCIA / MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Interferón Tipo I / Complejo de la Endopetidasa Proteasomal Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Sci Transl Med Asunto de la revista: CIENCIA / MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos