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SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Smits, Daphne J; Schot, Rachel; Krusy, Nathalie; Wiegmann, Katja; Utermöhlen, Olaf; Mulder, Monique T; den Hoedt, Sandra; Yoon, Grace; Deshwar, Ashish R; Kresge, Christina; Pletcher, Beth; van Mook, Maura; Ferreira, Marta Serio; Poot, Raymond A; Slotman, Johan A; Kremers, Gert-Jan; Ahmad, Abeer; Albash, Buthaina; Bastaki, Laila; Marafi, Dana; Dekker, Jordy; van Ham, Tjakko J; Nguyen, Laurent; Mancini, Grazia M S.
  • Smits DJ; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands.
  • Schot R; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands.
  • Krusy N; GIGA-Stem Cells/Neurosciences, University of Liège, CHU Sart Tilman, B-4000 Liège, Belgium.
  • Wiegmann K; Institute for Medical Microbiology, Immunology, and Hygiene, University Hospital Cologne, Center for Molecular Medicine Cologne, University of Cologne, Colgne 50935, Germany.
  • Utermöhlen O; Institute for Medical Microbiology, Immunology, and Hygiene, University Hospital Cologne, Center for Molecular Medicine Cologne, University of Cologne, Colgne 50935, Germany.
  • Mulder MT; Department of Internal Medicine, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • den Hoedt S; Department of Internal Medicine, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
  • Deshwar AR; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
  • Kresge C; Department of Genetics, Rutgers New Jersey Medical School, Newark, NJ, USA.
  • Pletcher B; Department of Genetics, Rutgers New Jersey Medical School, Newark, NJ, USA.
  • van Mook M; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands.
  • Ferreira MS; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands.
  • Poot RA; Department of Cell Biology, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Slotman JA; Department of Pathology, Optical Imaging Center, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Kremers GJ; Department of Pathology, Optical Imaging Center, ErasmusMC University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Ahmad A; Pediatric Endocrinology Unit, Department of Pediatrics, Adan Hospital, Hadiya 52700, Kuwait.
  • Albash B; Department of Pediatrics, Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat 80901, Kuwait.
  • Bastaki L; Department of Pediatrics, Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat 80901, Kuwait.
  • Marafi D; Department of Pediatrics, Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat 80901, Kuwait.
  • Dekker J; Section of Child Neurology, Department of Pediatrics, Adan Hospital, Hadiya 52700, Kuwait.
  • van Ham TJ; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait.
  • Nguyen L; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands.
  • Mancini GMS; Department of Clinical Genetics, ErasmusMC University Medical Center Rotterdam, Rotterdam 3015GD, The Netherlands.
Brain ; 146(8): 3528-3541, 2023 08 01.
Article en En | MEDLINE | ID: mdl-36732302
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Diabetes Mellitus / Microcefalia Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Diabetes Mellitus / Microcefalia Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article