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Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome

Autor: Eva Atsidaftos, Michael Landowski, Anupama Narla, Johnson M. Liu, Robert J. Arceci, Jeffrey M. Lipton, Thomas C. Markello, Sharon A. Singh, Adrianna Vlachos, Ellen Muir, Steven R. Ellis, Hanna T. Gazda, Lionel Blanc, David M. Bodine, Jason E. Farrar, Benjamin L. Ebert

Publikováno v: Blood. 122:2487-2490

Classical 5q- syndrome is an acquired macrocytic anemia of the elderly. Similar to Diamond Blackfan anemia (DBA), an inherited red cell aplasia, the bone marrow is characterized by a paucity of erythroid precursors. RPS14 deletions in combination wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b44f943b6bba120bed2b47692d36b7
https://doi.org/10.1182/blood-2013-06-509935

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Leucine for the Treatment of Transfusion Dependence in Patients with Diamond Blackfan Anemia

Autor: Barbara Gruner, Kelly Walkovich, Christine M. Knoll, Mohammad Lufti Lababidi, Jason E. Farrar, Anupama Narla, Helge Hartung, Zora R. Rogers, Waseem Alhushki, Evangelia Atsidaftos, Ellen Muir, Bertil Glader, Arun R Panigrahi, Colin A. Sieff, Jeffrey M. Lipton, Adrianna Vlachos, Grzegorz Nalepa

Publikováno v: Blood. 132:755-755

Diamond Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome characterized by anemia, congenital anomalies and a predisposition to cancer. The patients usually present during infancy or early childhood, but can also present in adul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b29c4e5bf0f45033599eb182f40142b5
https://doi.org/10.1182/blood-2018-99-113570

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How I treat Diamond-Blackfan anemia

Autor: Ellen Muir, Adrianna Vlachos

Diamond-Blackfan anemia (DBA) is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. In addition to being an inherited bone marrow failure syndrome, DBA is also categorized as a ribosomopathy as, in mor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15902d9740f79f20b649ad0175d73d26
https://europepmc.org/articles/PMC2981532/

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5q- Syndrome In a Child: Is This Acquired Diamond Blackfan Anemia (DBA)?

Autor: Sharon A. Singh, Jason E. Farrar, Robert J. Arceci, Ellen Muir, Adrianna Vlachos, Steven R. Ellis, David M. Bodine, Jeffrey M. Lipton, Johnson M. Liu, Thomas C. Markello, Eva Atsidaftos

Publikováno v: Blood. 116:4430-4430

Abstract 4430 Background: Diamond Blackfan anemia is a rare heritable red cell aplasia which usually presents in infancy but can also be diagnosed in childhood and even adulthood. Mutations or deletions in eleven ribosomal protein (RP) genes, resulti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f690b9ee405f319070b6e3a20650f57b
https://doi.org/10.1182/blood.v116.21.4430.4430

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5q- Myelodysplastic Syndrome, In One of 23 Children Lacking a Known Ribosomal Gene Mutation, Masquerading as Diamond Blackfan Anemia (DBA) and Responding to Lenalidomide

Autor: Robert J. Arceci, Adrianna Vlachos, Steven R. Ellis, Jason E. Farrar, Johnson M. Liu, Thomas C. Markello, Ellen Muir, Sharon A. Singh, Eva Atsidaftos, David M. Bodine, Jeffrey M. Lipton

Publikováno v: Blood. 116:LBA-2

Abstract LBA-2 Background: 5q- myelodysplastic syndrome is a rare, acquired macrocytic anemia with a female predominance. The bone marrow is characterized by a paucity of erythroid precursors with relatively normal leukocyte and platelet counts and n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e4bd62ab6c21e5b2a1f225a719cd1495
https://doi.org/10.1182/blood.v116.21.lba-2.lba-2

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Remission in Patients with Diamond Blackfan Anemia (DBA) Appears to Be Unrestricted by Phenotype or Genotype

Autor: Charalampos Lyssikatos, Hun Lee, Eva Atsidaftos, Jeffrey M. Lipton, Adrianna Vlachos, Ellen Muir, Hanna T. Gazda, Alan H. Beggs

Publikováno v: Blood. 112:3092-3092

Background: DBA is a rare genetic disorder characterized by faulty ribosome biogenesis, leading to pro-apoptotic erythropoiesis and red cell failure. The Diamond Blackfan Anemia Registry (DBAR) was established in 1993 to provide a robust database for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e95981da14fab6527ce201397b0da1e3
https://doi.org/10.1182/blood.v112.11.3092.3092

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