Ribosomopathies are a diverse subset of diseases caused by reduced expression of, or
mutations in, factors necessary for making ribosomes, the protein translation machinery in …

Updating the classification of hematologic neoplasia with germline predisposition, pediatric
myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML) is critical …

Background Genetic mutations drive the pathogenesis of the myelodysplastic syndrome
(MDS) and are closely associated with clinical phenotype. Therefore, genetic mutations may …

To understand the mechanisms that mediate germline genetic leukemia predisposition, we
studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone …

Mesenchymal niche cells may drive tissue failure and malignant transformation in the
hematopoietic system, but the underlying molecular mechanisms and relevance to human …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

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 …

This review focuses on the classification, diagnosis and natural history of congenital
neutropenia (CN). CN encompasses a number of genetic disorders with chronic neutropenia …

Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy
characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to …