Ribosome biogenesis and translation control are essential cellular processes that are
governed at numerous levels. Several tumour suppressors and proto-oncogenes have been …

Measures of selective constraint on genes have been used for many applications, including
clinical interpretation of rare coding variants, disease gene discovery and studies of genome …

Most of the energy requirement for cell growth, differentiation, and development is met by the
mitochondria in the form of ATP produced by the process of oxidative phosphorylation …

The gene encoding the ribosomal protein S19 (RPS19) is frequently mutated in Diamond-
Blackfan anemia (DBA), a congenital erythroblastopenia. The consequence of these …

Diamond-Blackfan anemia (DBA) is a rare congenital disease affecting erythroid precursor
differentiation. DBA is emerging as a paradigm for a new class of pathologies potentially …

Inherited non-hemolytic anemia is a group of rare bone marrow disorders characterized by
erythroid defects. Although concerted efforts have been made to explore the underlying …

Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with
mutations in at least 8 different ribosomal protein genes. Mutations in the gene encoding …

Anemia is a commonly encountered problem in the fetal and neonatal period, and can lead
to significant morbidity and mortality. Intrinsic disorders of the erythrocyte, such as the …

Idiopathic infertility, an etiology not identified as part of standard clinical assessment,
represents approximately 20% of all infertility cases. Current male infertility diagnosis …

While the nucleolus was first observed over two hundred years ago, its role in human
cancers is only now being appreciated. Long thought to be a static, ribosome-producing …