Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome

Autor: Janine Fiedler, Gabriele Strauß, Martin Wannack, Silke Schwiebert, Kerstin Seidel, Katja Henning, Eva Klopocki, Markus Schmugge, Gerhard Gaedicke, Harald Schulze

Publikováno v: Haematologica, Vol 97, Iss 1 (2012)

Background Thrombocytopenia with absent radii syndrome is defined by bilateral radius aplasia and thrombocytopenia. Due to impaired thrombopoietin signaling there are only few bone marrow megakaryocytes and these are immature; the resulting platelet

Externí odkaz: https://doaj.org/article/0e25bc1c832d43e19d80ba2acb808273

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Autor: K Smith, Chantal Thys, Najet Debili, Paul Bertone, Paquita Nurden, Gabriele Strauss, Kathleen Freson, Rémi Favier, Jennifer Jolley, Cornelis A. Albers, Jennifer G. Sambrook, Dirk S. Paul, Myrto Kostadima, Ingrid P.C. Krapels, Matthew E. Hurles, Graham Kiddle, Derek L. Stemple, Jonathan Stephens, Catherine M. Hobbs, Ana Cvejic, Janine Fiedler, Willem H. Ouwehand, Christel Van Geet, Cedric Ghevaert, Claudia A. L. Ruivenkamp, Panos Deloukas, Martijn H. Breuning, Ni Huang, Ruth Newbury-Ecob, Peter A. Smethurst, Harald Schulze

Publikováno v: Nature Genetics, 44(4), 435-U248
Nature Genetics, 44, 435-9, S1-2
Nature Genetics, 44(4), 435-U248. Nature Publishing Group
Nature Genetics, 44, 4, pp. 435-9, S1-2
Nature genetics

Item does not contain fulltext The exon-junction complex (EJC) performs essential RNA processing tasks. Here, we describe the first human disorder, thrombocytopenia with absent radii (TAR), caused by deficiency in one of the four EJC subunits. Compou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::461f96d420b521d87d5990f360e84678
http://hdl.handle.net/1887/99253

Effect of Single Nucleotide Polymorphism in the Gene RBM8A Together with the Microdeletion 1q21 in Thrombocytopenia-Absent Radii Syndrome

Autor: Gabriele Strauss, Kathleen Freson, Cornelis A. Albers, Harald Schulze, Willem H. Ouwehand, Cedric Ghaevert, Ruth Newbury-Ecob, Markus Schmugge, Janine Fiedler

Publikováno v: Blood. 120:2372-2372

Abstract 2372 Thrombocytopenia-absent radii syndrome (TAR) is a rare congenital disorder characterized by bilateral radius aplasia and thrombocytopenia due to virtual absence of bone marrow megakaryocytes (MKs). As other blood lineages are not affect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::111aca41c4bc85f7aa50ffe0e3a2711f
https://doi.org/10.1182/blood.v120.21.2372.2372