Mutations that target the ubiquitous process of ribosome assembly paradoxically cause
diverse tissue-specific disorders (ribosomopathies) that are often associated with an …

Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of
age-related somatic mutations, whereas MDS presenting in children and younger adults is …

Defects in ribosome biogenesis are associated with a group of diseases called the
ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes …

Ribosomes perform protein synthesis but are also involved in signaling processes, the full
extent of which are still being uncovered. We report that phenotypes of mutating ribosomal …

Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by
various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency …

Inherited bone marrow failure syndromes (IBMFSs), characterized by bone marrow failure
and developmental anomalies, are among a group of rare cancer predisposition syndromes …

Neurodevelopmental defects in humans represent a clinically heterogeneous group of
disorders. Here, we report the genetic and functional dissection of a multigenerational …

The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases
characterized by failure in the production of one or more blood lineage. The clinical …

Abstract The European Hematology Association (EHA) Roadmap for European Hematology
Research highlights major achievements in diagnosis and treatment of blood disorders and …

Ribosomal protein dysfunction causes diverse human diseases, including Diamond–
Blackfan anemia (DBA). Despite the universal need for ribosomes in all cell types, the …