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HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
O'Donohue, Marie-Françoise; Da Costa, Lydie; Lezzerini, Marco; Unal, Sule; Joret, Clément; Bartels, Marije; Brilstra, Eva; Scheijde-Vermeulen, Marijn; Wacheul, Ludivine; De Keersmaecker, Kim; Vereecke, Stijn; Labarque, Veerle; Saby, Manon; Lefevre, Sophie D; Platon, Jessica; Montel-Lehry, Nathalie; Laugero, Nathalie; Lacazette, Eric; van Gassen, Koen; Houtkooper, Riekelt H; Simsek-Kiper, Pelin Ozlem; Leblanc, Thierry; Yarali, Nese; Cetinkaya, Arda; Akarsu, Nurten A; Gleizes, Pierre-Emmanuel; Lafontaine, Denis L J; MacInnes, Alyson W.
Afiliación
  • O'Donohue MF; MCD, Centre de Biologie Intégrative, Université de Toulouse, Centre National de la Recherche Scientifique (CNRS), UT3, Toulouse, France.
  • Da Costa L; University of Paris Cité, Paris, France.
  • Lezzerini M; Hematim EA4666, Amiens, France.
  • Unal S; Laboratory of Excellence for Red Cells, LABEX GR-Ex, Paris, France.
  • Joret C; Service d'Hématologie Biologique, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.
  • Bartels M; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, The Netherlands.
  • Brilstra E; Pediatric Hematology Unit, Department of Pediatrics, Medical Faculty, and.
  • Scheijde-Vermeulen M; Research Center on Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Hacettepe University, Ankara, Turkey.
  • Wacheul L; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Gosselies, Belgium.
  • De Keersmaecker K; Department of Pediatric Hematology and.
  • Vereecke S; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Labarque V; Princess Máxima Center for Pediatric Oncology, Department of Pathology, Utrecht, The Netherlands.
  • Saby M; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Gosselies, Belgium.
  • Lefevre SD; Laboratory for Disease Mechanisms in Cancer, Department of Oncology, Katholieke Universiteit Leuven (KU Leuven) and Leuven Cancer Institute (LKI), Leuven, Belgium.
  • Platon J; Laboratory for Disease Mechanisms in Cancer, Department of Oncology, Katholieke Universiteit Leuven (KU Leuven) and Leuven Cancer Institute (LKI), Leuven, Belgium.
  • Montel-Lehry N; Department of Pediatric Hemato-Oncology, University Hospitals Leuven, Leuven, Belgium.
  • Laugero N; UMR S1134, INSERM, Paris, France.
  • Lacazette E; Laboratory of Excellence for Red Cells, LABEX GR-Ex, Paris, France.
  • van Gassen K; UMR S1134, INSERM, Paris, France.
  • Houtkooper RH; Hematim EA4666, Amiens, France.
  • Simsek-Kiper PO; MCD, Centre de Biologie Intégrative, Université de Toulouse, Centre National de la Recherche Scientifique (CNRS), UT3, Toulouse, France.
  • Leblanc T; UMR 1297-I2MC, INSERM, Université de Toulouse, Toulouse, France.
  • Yarali N; UMR 1297-I2MC, INSERM, Université de Toulouse, Toulouse, France.
  • Cetinkaya A; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Akarsu NA; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, The Netherlands.
  • Gleizes PE; Pediatric Genetics Unit, Department of Pediatrics, Medical Faculty, Hacettepe University, Ankara, Turkey.
  • Lafontaine DLJ; Immuno-Hematology Department, Hôpital Robert-Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • MacInnes AW; EA-3518, Université Paris Cité, Paris, France.
Blood ; 139(21): 3111-3126, 2022 05 26.
Article en En | MEDLINE | ID: mdl-35213692
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas / Anemia de Diamond-Blackfan Límite: Humans Idioma: En Revista: Blood Año: 2022 Tipo del documento: Article País de afiliación: Francia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas / Anemia de Diamond-Blackfan Límite: Humans Idioma: En Revista: Blood Año: 2022 Tipo del documento: Article País de afiliación: Francia